diff --git a/.github/workflows/subclass.yaml b/.github/workflows/subclass.yaml new file mode 100644 index 0000000000..f68c9c412c --- /dev/null +++ b/.github/workflows/subclass.yaml @@ -0,0 +1,40 @@ +name: Update Subclass Evidence + +on: +# schedule: +# - cron: '0 14 * * 1' + workflow_dispatch: + +jobs: + build: + runs-on: ubuntu-latest + container: obolibrary/odkfull:v1.5.2 + + steps: + - name: Checkout main branch + uses: actions/checkout@v3 + + - name: Update Subclass evidence + run: | + cd src/ontology + make GITHUB_ACTION=true IMP=false PAT=false update-subclass-sync -B + + # This is important if we are out of sync between Mondo and Mondo Ingest: + # We need to eventually add a check to ensure that no subclass axioms have been added or removed + # We should consider to create a seperate curation workflows with a table with previously supported and now not anymore supported subclass axioms + - name: QC to ensure that nothing other than provenance has changed + run: | + cd src/ontology + make GITHUB_ACTION=true IMP=false PAT=false qc -B + + - name: Create Pull Request + uses: peter-evans/create-pull-request@v5 + with: + branch-suffix: short-commit-hash + labels: Automated + body: "Update the confirmed subclass axiom annotation." + title: "Weekly automated mappings update" + base: ${{ github.head_ref }} + branch: "mapping_automation" + token: ${{ secrets.GH_TOKEN }} + reviewers: "sabrinatoro" diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 903c66e5fb..d752cab34c 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -620,7 +620,7 @@ synonym: "microphthalmia, isolated" EXACT [OMIMPS:251600] synonym: "nonsyndromic microphthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0080637 {source="MONDO:equivalentTo"} xref: OMIMPS:251600 {source="MONDO:equivalentTo"} -is_a: MONDO:0021129 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia +is_a: MONDO:0021129 {source="DOID:0080637", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia intersection_of: MONDO:0021129 ! microphthalmia intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation relationship: has_characteristic MONDO:0021152 {source="OMIMPS:251600"} ! inherited @@ -1338,7 +1338,7 @@ xref: Orphanet:2340 {source="MONDO:equivalentTo"} xref: SCTID:238626006 {source="MONDO:equivalentTo"} xref: UMLS:C0343057 {source="MEDGEN:83355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006566 {source="https://orcid.org/0000-0001-5208-3432"} ! keratosis -is_a: MONDO:0018855 {source="Orphanet:2340"} ! keratosis pilaris atrophicans +is_a: MONDO:0018855 {source="DOID:0080753", source="Orphanet:2340"} ! keratosis pilaris atrophicans is_a: MONDO:0800159 {source="PMID:33340416"} ! disorder of polyamine metabolism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -1586,7 +1586,7 @@ xref: NCIT:C119752 {source="MONDO:otherHierarchy", source="EFO:1000648"} xref: OMIMPS:142700 {source="MONDO:equivalentTo"} xref: SCTID:52781008 {source="MONDO:equivalentTo"} xref: UMLS:C4551649 {source="MEDGEN:1640560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005497 {source="EFO:1000648"} ! bone development disease +is_a: MONDO:0005497 {source="DOID:0060930", source="EFO:1000648"} ! bone development disease relationship: disease_has_major_feature HP:0001384 ! Abnormal hip joint morphology relationship: has_characteristic MONDO:0021152 {source="OMIMPS:142700"} ! inherited @@ -1771,7 +1771,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0112375 {source="MONDO:equivalentTo"} xref: OMIMPS:613155 {source="MONDO:equivalentTo"} -is_a: MONDO:0018276 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy +is_a: MONDO:0018276 {source="DOID:0112375", source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy-dystroglycanopathy relationship: has_characteristic MONDO:0021152 {source="OMIMPS:613155"} ! inherited [Term] @@ -2509,6 +2509,7 @@ name: oropharyngeal anthrax def: "A anthrax infection that involves the oropharynx." [MONDO:patterns/location] synonym: "oropharynx anthrax infection" EXACT [MONDO:patterns/location] xref: DOID:0050059 {source="MONDO:equivalentTo"} +is_a: MONDO:0001701 {source="DOID:0050059"} ! gastrointestinal anthrax intersection_of: MONDO:0005119 ! anthrax infection intersection_of: disease_has_location UBERON:0001729 ! oropharynx relationship: disease_has_infectious_agent NCBITaxon:1392 ! Bacillus anthracis @@ -2726,6 +2727,7 @@ xref: DOID:0050132 {source="MONDO:equivalentTo"} xref: MEDGEN:636702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:95544006 {source="MONDO:equivalentTo"} xref: UMLS:C0521604 {source="MEDGEN:636702", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0001673 {source="DOID:0050132"} ! diarrheal disease intersection_of: MONDO:0001673 ! diarrheal disease intersection_of: disease_has_inflammation_site UBERON:0001242 ! intestinal mucosa @@ -2826,7 +2828,7 @@ name: asymptomatic dengue subset: inferred_rare subset: rare xref: DOID:0050143 {source="MONDO:equivalentTo"} -is_a: MONDO:0005502 {source="https://orcid.org/0000-0001-5208-3432"} ! dengue disease +is_a: MONDO:0005502 {source="DOID:0050143", source="https://orcid.org/0000-0001-5208-3432"} ! dengue disease [Term] id: MONDO:0000260 @@ -2951,6 +2953,7 @@ xref: EFO:1001834 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:390019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D055732 {source="MONDO:equivalentTo"} xref: UMLS:C2350529 {source="MEDGEN:390019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005657 {source="DOID:0050153"} ! aspergillosis intersection_of: MONDO:0005657 ! aspergillosis intersection_of: disease_has_location UBERON:0002048 ! lung @@ -3160,6 +3163,7 @@ xref: MEDGEN:640194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:302919001 {source="MONDO:equivalentTo"} xref: UMLS:C0554114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:640194"} is_a: MONDO:0005093 {source="DOID:0050204", source="MONDO:Redundant"} ! skin disorder +is_a: MONDO:0005111 {source="DOID:0050204"} ! Epstein-Barr virus infection is_a: MONDO:0006011 {source="DOID:0050204", source="MONDO:Redundant"} ! viral hepatitis intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_inflammation_site UBERON:0002107 ! liver @@ -3177,6 +3181,7 @@ name: polycystic echinococcosis synonym: "human polycystic hydatid disease" EXACT [DOID:0050218, Wikipedia:Echinococcosis] synonym: "neotropical echinococcosis" EXACT [DOID:0050218, Wikipedia:Echinococcosis] xref: DOID:0050218 {source="MONDO:equivalentTo"} +is_a: MONDO:0005154 {source="DOID:0050218"} ! liver disorder is_a: MONDO:0005738 {source="DOID:0050218", source="MONDO:Redundant"} ! echinococcosis intersection_of: MONDO:0005738 ! echinococcosis intersection_of: disease_has_infectious_agent NCBITaxon:6213 ! Echinococcus vogeli @@ -4185,6 +4190,7 @@ xref: OMIMPS:277300 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:1797 {source="MONDO:relatedTo", source="DOID:0050568"} xref: Orphanet:2311 {source="DOID:0050568"} xref: UMLS:C0265343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82707"} +is_a: MONDO:0000812 {source="DOID:0050568"} ! vertebral column disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018234 {source="DOID:0050568", source="NCIT:C125598", source="https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/"} ! dysostosis relationship: disease_has_location UBERON:0001130 ! vertebral column @@ -4533,6 +4539,7 @@ xref: NCIT:C6019 {source="MONDO:relatedTo", source="DOID:0050619"} xref: NCIT:C8193 {source="DOID:0050619"} xref: UMLS:C0854995 {source="MONDO:equivalentTo", source="MEDGEN:167751", source="MONDO:MEDGEN"} is_a: MONDO:0001735 {source="DOID:0050619", source="MONDO:Redundant", source="NCIT:C6014/inferred"} ! paranasal sinus disorder +is_a: MONDO:0020669 {source="NCIT:C6014"} ! paranasal sinus cancer is_a: MONDO:0056819 {source="NCIT:C6014"} ! nasal cavity and paranasal sinus carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus @@ -4651,7 +4658,7 @@ xref: MEDGEN:141680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4787 {source="MONDO:equivalentTo"} xref: UMLS:C0497538 {source="MEDGEN:141680", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004335 {source="DOID:0050624", source="MONDO:Entailed", source="NCIT:C4787/inferred"} ! digestive system disorder -is_a: MONDO:0005165 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDO:Redundant", source="NCIT:C4787"} ! benign neoplasm is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C4787"} ! digestive system neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system @@ -4691,6 +4698,7 @@ xref: UMLS:C2930967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004335 {source="DOID:0050626/inferred", source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! digestive system disorder is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! neuroendocrine neoplasm is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C95404/inferred"} ! digestive system neoplasm +is_a: MONDO:0024503 {source="NCIT:C95404"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system intersection_of: has_characteristic MONDO:0024495 ! tumor grade 1 or 2, general grading system @@ -5135,7 +5143,7 @@ synonym: "inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inb synonym: "inborn vitamin B12 deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "rare inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050731 {source="MONDO:equivalentTo"} -is_a: MONDO:0005528 {source="HP:0100502", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn vitamin metabolic disorder +is_a: MONDO:0005528 {source="DOID:0050731", source="HP:0100502", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn vitamin metabolic disorder intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0009235 ! cobalamin metabolic process property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7353" xsd:anyURI @@ -5270,7 +5278,7 @@ xref: NCIT:C3468 {source="MONDO:equivalentTo"} xref: SCTID:109977009 {source="MONDO:equivalentTo"} xref: UMLS:C5551485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790498"} is_a: MONDO:0005169 {source="MONDO:Redundant", source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells -is_a: MONDO:0015760 {source="MESH:D016411", source="MONDO:Redundant", source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="DOID:0050743", source="MESH:D016411", source="MONDO:Redundant", source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0018908 {source="DOID:0050743", source="DOID:0050749/inferred", source="MESH:D016411/inferred", source="MONDO:0000430/inferred", source="NCIT:C3468/inferred"} ! non-Hodgkin lymphoma intersection_of: MONDO:0005169 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells intersection_of: MONDO:0015760 {source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma @@ -5486,7 +5494,7 @@ xref: SCTID:72925005 {source="MONDO:equivalentTo"} xref: UMLS:C0158683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56388"} is_a: MONDO:0000426 {source="DOID:0050770", source="OMIMPS:174050"} ! autosomal dominant disease is_a: MONDO:0003847 {source="DOID:0050770/inferred"} ! hereditary disease -is_a: MONDO:0005154 {source="https://orcid.org/0000-0002-6601-2165"} ! liver disorder +is_a: MONDO:0005154 {source="DOID:0050770", source="https://orcid.org/0000-0002-6601-2165"} ! liver disorder relationship: disease_has_location UBERON:0002107 ! liver relationship: has_characteristic MONDO:0021152 {source="OMIMPS:174050"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease" xsd:anyURI {source="GARD:0009457"} @@ -6528,7 +6536,7 @@ xref: NCIT:C8748 {source="MONDO:relatedTo"} xref: ONCOTREE:LAIS {source="MONDO:equivalentTo"} xref: UMLS:C4521520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620128"} is_a: MONDO:0003218 {source="MONDO:Redundant", source="NCIT:C136486"} ! adenocarcinoma in situ -is_a: MONDO:0004660 {source="MONDO:Redundant", source="NCIT:C8748/inferred"} ! lung carcinoma in situ +is_a: MONDO:0004660 {source="DOID:0050870", source="MONDO:Redundant", source="NCIT:C8748/inferred"} ! lung carcinoma in situ is_a: MONDO:0005061 {source="MONDO:Redundant", source="NCIT:C136486"} ! lung adenocarcinoma intersection_of: MONDO:0003218 ! adenocarcinoma in situ intersection_of: disease_has_location UBERON:0002048 ! lung @@ -6666,6 +6674,7 @@ subset: rare synonym: "bone tissue squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050896 {source="MONDO:equivalentTo"} is_a: MONDO:0002415 {source="DOID:0050896", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone carcinoma +is_a: MONDO:0005096 {source="DOID:0050896"} ! squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -6757,6 +6766,7 @@ xref: DOID:0050903 {source="MONDO:equivalentTo"} xref: MEDGEN:1392382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C131575 {source="MONDO:equivalentTo"} xref: UMLS:C4330935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392382"} +is_a: MONDO:0001952 {source="DOID:0050903"} ! parietal lobe cancer is_a: MONDO:0004245 {source="MONDO:Redundant", source="NCIT:C131575"} ! ependymal tumor of brain is_a: MONDO:0021373 {source="MONDO:Redundant", source="NCIT:C131575"} ! neoplasm of parietal lobe intersection_of: MONDO:0003266 ! ependymal tumor @@ -7059,6 +7069,8 @@ xref: HP:0030411 {source="MONDO:otherHierarchy"} xref: MEDGEN:893029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C181158 {source="MONDO:equivalentTo"} xref: UMLS:C4072935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:893029"} +is_a: MONDO:0003198 {source="NCIT:C181158"} ! small intestine adenocarcinoma +is_a: MONDO:0006815 {source="DOID:0050926"} ! jejunal cancer intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0002115 ! jejunum property_value: IAO:0000589 "jejunal adenocarcinoma (disease)" xsd:string @@ -7555,6 +7567,7 @@ synonym: "alimentary part of gastrointestinal system autoimmune disease" EXACT [ synonym: "alimentary part of gastrointestinal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "autoimmune disease of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern] xref: DOID:0060031 {source="MONDO:equivalentTo"} +is_a: MONDO:0004335 {source="DOID:0060031"} ! digestive system disorder is_a: MONDO:0007179 {source="DOID:0060031", source="MONDO:Entailed", source="MONDO:Redundant"} ! autoimmune disease intersection_of: MONDO:0007179 ! autoimmune disease intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system @@ -8061,6 +8074,7 @@ xref: MEDGEN:181751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4777 {source="MONDO:equivalentTo"} xref: UMLS:C0947786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181751"} is_a: MONDO:0000383 {source="DOID:0060087", source="MONDO:Redundant", source="NCIT:C4777"} ! benign reproductive system neoplasm +is_a: MONDO:0003150 {source="DOID:0060087"} ! male reproductive system disorder intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000079 ! male reproductive system @@ -8166,6 +8180,7 @@ xref: SCTID:92027006 {source="MONDO:equivalentTo"} xref: UMLS:C0684516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:146337"} is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed", source="NCIT:C4880"} ! benign connective and soft tissue neoplasm is_a: MONDO:0005381 {source="DOID:0060094", source="MONDO:Entailed"} ! bone disorder +is_a: MONDO:0019060 {source="NCIT:C4880"} ! bone neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -8241,7 +8256,7 @@ xref: MEDGEN:138065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4565 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:255059002 {source="MONDO:equivalentTo"} xref: UMLS:C0346440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138065"} -is_a: MONDO:0005165 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Redundant", source="NCIT:C4565"} ! benign neoplasm is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C4565"} ! neoplasm of thorax intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk @@ -8428,7 +8443,7 @@ xref: NCIT:C3607 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92056006 {source="MONDO:equivalentTo"} xref: UMLS:C0153997 {source="MEDGEN:102300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000624 {source="DOID:0060110", source="MONDO:Redundant", source="NCIT:C3607/inferred"} ! benign female reproductive system neoplasm -is_a: MONDO:0000632 {source="MONDO:Redundant", source="NCIT:C3607"} ! uterine benign neoplasm +is_a: MONDO:0000632 {source="DOID:0060110", source="MONDO:Redundant", source="NCIT:C3607"} ! uterine benign neoplasm is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C3607"} ! uterine cervix neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -8547,7 +8562,7 @@ xref: NCIT:C4789 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:92247009 {source="MONDO:equivalentTo"} xref: UMLS:C0497550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99232"} is_a: MONDO:0005071 {source="DOID:0060115", source="MONDO:Redundant", source="NCIT:C4789/inferred"} ! nervous system disorder -is_a: MONDO:0005165 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Redundant", source="NCIT:C4789"} ! benign neoplasm is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4789"} ! nervous system neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001016 ! nervous system @@ -9064,7 +9079,7 @@ xref: MEDGEN:66037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C101334 {source="MONDO:equivalentTo"} xref: Orphanet:289899 {source="MONDO:equivalentTo"} xref: UMLS:C0241775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66037"} -is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism +is_a: MONDO:0004736 {source="DOID:0060159", source="PMID:33340416"} ! inborn disorder of amino acid metabolism relationship: excluded_subClassOf MONDO:0019052 {source="DOID:0060159/inferred", source="MONDO:Redundant", source="NCIT:C101334", source="Orphanet:289899/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! inborn errors of metabolism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia" xsd:anyURI {source="GARD:0009433"} @@ -10352,6 +10367,7 @@ xref: DOID:0040087 {source="MONDO:equivalentTo"} xref: DOID:0060499 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MEDGEN:1843469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C2748363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843469"} +is_a: MONDO:0000590 {source="DOID:0040087"} ! autoimmune disorder of peripheral nervous system intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity relationship: excluded_subClassOf MONDO:0000568 {source="DOID:0060499", source="https://orcid.org/0000-0001-5208-3432"} ! autoimmune disorder of central nervous system @@ -10853,6 +10869,7 @@ xref: MEDGEN:1830134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014381 {source="MONDO:equivalentTo", source="DOID:0060570"} xref: UMLS:C5704594 {source="MEDGEN:1830134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000368 {source="https://orcid.org/0000-0002-6670-9157"} ! extrapulmonary tuberculosis +is_a: MONDO:0005267 {source="DOID:0060570"} ! heart disorder intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0000948 ! heart relationship: excluded_subClassOf MONDO:0018076 {source="DOID:0060570", source="EFO:1001442", source="MESH:D014381", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis @@ -10932,7 +10949,7 @@ xref: OMIMPS:605552 {source="DOID:0060611", source="MONDO:equivalentTo"} xref: Orphanet:411969 {source="MONDO:equivalentObsolete"} xref: SCTID:237602007 {source="EFO:0000195"} xref: UMLS:C2930930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419670"} -is_a: MONDO:0002254 {source="NCIT:C84442"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060611", source="NCIT:C84442"} ! syndromic disease is_a: MONDO:0003916 {source="DOID:0060611"} ! overnutrition is_a: MONDO:0005066 {source="EFO:0000195", source="ICD10CM:E88.81/inferred"} ! metabolic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605552"} ! inherited @@ -11136,6 +11153,7 @@ name: bone remodeling disease def: "A bone disease that results in formation or resorption abnormalities located in bone." [DOID:0080005, http://en.wikipedia.org/wiki/Bone_remodeling] subset: otar {source="MONDO:OTAR"} xref: DOID:0080005 {source="MONDO:equivalentTo"} +is_a: MONDO:0005381 {source="DOID:0080005"} ! bone disorder intersection_of: MONDO:0005381 ! bone disorder intersection_of: disease_disrupts GO:0046849 ! bone remodeling @@ -11177,6 +11195,7 @@ xref: DOID:0080011 {source="MONDO:equivalentTo"} xref: MEDGEN:14188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D001862 {source="DOID:0080011", source="MONDO:equivalentTo"} xref: UMLS:C0005974 {source="MEDGEN:14188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000833 {source="DOID:0080011"} ! bone remodeling disease intersection_of: MONDO:0000833 ! bone remodeling disease intersection_of: disease_disrupts GO:0045453 ! bone resorption @@ -11453,7 +11472,7 @@ xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:equivalentTo"} xref: SCTID:724138007 {source="MONDO:equivalentTo"} xref: UMLS:C1838103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373888"} is_a: MONDO:0005336 {source="DOID:0080099"} ! myopathy -is_a: MONDO:0009637 {source="MESH:C536101/inferred", source="Orphanet:2598"} ! inborn mitochondrial myopathy +is_a: MONDO:0009637 {source="DOID:0080099", source="MESH:C536101/inferred", source="Orphanet:2598"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020099 {source="Orphanet:2598"} ! inherited sideroblastic anemia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:600462"} ! inherited @@ -11590,7 +11609,7 @@ xref: NCIT:C7953 {source="DOID:0080145", source="MONDO:equivalentTo"} xref: UMLS:C0279583 {source="MEDGEN:75996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000870 {source="DOID:0080145", source="MONDO:Redundant", source="NCIT:C7953"} ! childhood acute lymphoblastic leukemia is_a: MONDO:0004403 {source="NCIT:C7953"} ! childhood precursor T-lymphoblastic lymphoma/leukemia -is_a: MONDO:0004963 {source="EFO:1001947", source="NCIT:C7953"} ! T-cell acute lymphoblastic leukemia +is_a: MONDO:0004963 {source="DOID:0080145", source="EFO:1001947", source="NCIT:C7953"} ! T-cell acute lymphoblastic leukemia relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -11944,7 +11963,7 @@ xref: ICDO:8254/3 {source="NCIT:C7270"} xref: MEDGEN:220410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7270 {source="MONDO:equivalentTo"} xref: UMLS:C1266036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220410"} -is_a: MONDO:0004991 {source="DOID:0080184"} ! minimally invasive lung adenocarcinoma +is_a: MONDO:0004991 {source="DOID:0080184", source="NCIT:C7270"} ! minimally invasive lung adenocarcinoma [Term] id: MONDO:0000894 @@ -12619,6 +12638,7 @@ xref: MEDGEN:90937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4358 {source="MONDO:equivalentTo", source="DOID:10040"} xref: SCTID:231834005 {source="MONDO:equivalentTo", source="DOID:10040"} xref: UMLS:C0339116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90937"} +is_a: MONDO:0005012 {source="DOID:10040"} ! cutaneous melanoma is_a: MONDO:0006325 {source="MONDO:Redundant", source="NCIT:C4358"} ! ocular melanoma is_a: MONDO:0021313 {source="MONDO:Redundant", source="NCIT:C4358"} ! eyelid cancer intersection_of: MONDO:0005105 ! melanoma @@ -12857,7 +12877,7 @@ xref: SCTID:186819000 {source="DOID:10113"} xref: SCTID:266205000 {source="DOID:10113"} xref: SCTID:78940002 {source="MONDO:equivalentTo", source="DOID:10113"} xref: UMLS:C0041227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52872"} -is_a: MONDO:0002428 {source="DOID:10113", source="MESH:D014352/inferred"} ! protozoa infectious disease +is_a: MONDO:0002428 {source="DOID:10113", source="ICD10CM:B56", source="MESH:D014352/inferred"} ! protozoa infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:5690 ! Trypanosoma @@ -13101,6 +13121,7 @@ xref: SCTID:187963003 {source="DOID:10149"} xref: SCTID:449627008 {source="MONDO:equivalentTo"} xref: UMLS:C3265932 {source="MEDGEN:757711", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002129 {source="DOID:10149", source="MONDO:Redundant"} ! bone cancer +is_a: MONDO:0024311 {source="ICD10CM:C40.2"} ! cancer affecting bone of limb skeleton intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003608 ! hindlimb long bone @@ -13310,7 +13331,7 @@ xref: MEDGEN:208874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5063 {source="MONDO:equivalentTo", source="DOID:10183", source="MONDO:exact-label-match"} xref: UMLS:C0852937 {source="MEDGEN:208874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002807 {source="DOID:10183"} ! bronchial neoplasm -is_a: MONDO:0005106 {source="NCIT:C5063"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10183", source="NCIT:C5063"} ! lipoma is_a: MONDO:0044335 {source="NCIT:C5063"} ! benign soft tissue neoplasm relationship: disease_has_location UBERON:0007196 ! tracheobronchial tree relationship: excluded_subClassOf MONDO:0002732 {source="NCIT:C5063", source="https://orcid.org/0000-0001-5208-3432"} ! lung benign neoplasm @@ -13522,7 +13543,7 @@ xref: NCIT:C5835 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", xref: UMLS:C1333747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272660"} is_a: MONDO:0005106 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835"} ! lipoma is_a: MONDO:0005281 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! gallbladder disorder -is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! benign neoplasm of gallbladder +is_a: MONDO:0021503 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! benign neoplasm of gallbladder intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder relationship: excluded_subClassOf MONDO:0005304 {source="DOID:10201", source="https://orcid.org/0000-0001-5208-3432"} ! biliary tract neoplasm @@ -13547,7 +13568,7 @@ xref: NCIT:C4618 {source="DOID:10203", source="MONDO:equivalentTo"} xref: SCTID:188988008 {source="DOID:10203", source="MONDO:equivalentTo"} xref: UMLS:C0347423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91130"} is_a: MONDO:0000633 {source="DOID:10203", source="MONDO:Redundant", source="MONDO:indirect"} ! sensory organ benign neoplasm -is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C4618"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10203", source="MONDO:Redundant", source="NCIT:C4618"} ! lipoma is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4618/inferred"} ! external ear neoplasm is_a: MONDO:0021474 {source="MONDO:Redundant", source="NCIT:C4618/inferred"} ! benign neoplasm of ear intersection_of: MONDO:0005106 ! lipoma @@ -13567,7 +13588,7 @@ xref: NCIT:C35419 {source="MONDO:equivalentTo"} xref: SCTID:188993006 {source="DOID:10205", source="MONDO:equivalentTo"} xref: UMLS:C0347429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87575"} is_a: MONDO:0000634 {source="DOID:10205", source="NCIT:C35419/inferred"} ! thoracic benign neoplasm -is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C35419"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10205", source="MONDO:Redundant", source="NCIT:C35419"} ! lipoma is_a: MONDO:0036781 {source="MONDO:Redundant", source="NCIT:C35419"} ! benign axillary neoplasm intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0009472 ! axilla @@ -13585,6 +13606,7 @@ xref: MEDGEN:102299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3606 {source="DOID:10206", source="MONDO:equivalentTo"} xref: SCTID:93162007 {source="DOID:10206", source="MONDO:equivalentTo"} xref: UMLS:C0153972 {source="MEDGEN:102299", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000625 {source="DOID:10206"} ! benign male reproductive system neoplasm is_a: MONDO:0000976 {source="DOID:10206", source="NCIT:C3606"} ! paratesticular lipoma is_a: MONDO:0005106 {source="DOID:10206", source="MONDO:Redundant", source="NCIT:C3606/inferred"} ! lipoma intersection_of: MONDO:0005106 ! lipoma @@ -13600,7 +13622,7 @@ xref: MEDGEN:233310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6384 {source="DOID:10207", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335348 {source="MEDGEN:233310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000383 {source="DOID:10207", source="NCIT:C6384/inferred"} ! benign reproductive system neoplasm -is_a: MONDO:0005106 {source="NCIT:C6384"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10207", source="NCIT:C6384"} ! lipoma [Term] id: MONDO:0000977 @@ -13836,7 +13858,7 @@ xref: ICD9:575.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID: xref: MEDGEN:509042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:61565001 {source="MONDO:equivalentTo", source="DOID:10254"} xref: UMLS:C0152456 {source="MEDGEN:509042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005281 {source="DOID:10254", source="MONDO:Redundant"} ! gallbladder disorder +is_a: MONDO:0005281 {source="DOID:10254", source="ICD10CM:K82.4", source="MONDO:Redundant"} ! gallbladder disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_basis_in_disruption_of GO:0042632 ! cholesterol homeostasis intersection_of: disease_has_location UBERON:0004781 ! gallbladder lamina propria @@ -14513,6 +14535,7 @@ xref: SCTID:35339003 {source="MONDO:equivalentTo", source="DOID:10398"} xref: SCTID:38976008 {source="DOID:10398"} xref: SCTID:67525007 {source="DOID:10398"} xref: UMLS:C0524688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105580"} +is_a: MONDO:0005275 {source="DOID:10398"} ! lung disorder is_a: MONDO:0019095 {source="DOID:10398", source="ICD10CM:A20.2", source="MONDO:Redundant"} ! plague intersection_of: MONDO:0019095 ! plague intersection_of: disease_has_location UBERON:0002048 ! lung @@ -14931,6 +14954,7 @@ xref: SCTID:204712000 {source="DOID:10488"} xref: SCTID:204731006 {source="DOID:10488", source="MONDO:equivalentTo"} xref: SCTID:204733009 {source="DOID:10488"} xref: UMLS:C0003466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1997"} +is_a: MONDO:0002519 {source="DOID:10488"} ! anus disorder is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis relationship: disease_has_feature HP:0002023 ! Anal atresia relationship: disease_has_location UBERON:0001245 ! anus @@ -15237,7 +15261,7 @@ xref: SCTID:187736009 {source="DOID:10544", source="MONDO:equivalentTo"} xref: SCTID:187739002 {source="DOID:10544"} xref: SCTID:269527009 {source="DOID:10544"} xref: UMLS:C0153418 {source="MEDGEN:509281", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001056 {source="DOID:10544", source="MONDO:Entailed", source="MONDO:Redundant"} ! gastric cancer +is_a: MONDO:0001056 {source="DOID:10544", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C188051"} ! gastric cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001166 ! pylorus @@ -15352,7 +15376,7 @@ xref: SCTID:68556002 {source="DOID:10567"} xref: SCTID:69008006 {source="DOID:10567"} xref: UMLS:C1517744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276026"} is_a: MONDO:0005093 {source="DOID:10567", source="MONDO:Redundant"} ! skin disorder -is_a: MONDO:0006019 {source="DOID:10567", source="NCIT:C41354"} ! yaws +is_a: MONDO:0006019 {source="DOID:10567", source="ICD10CM:A66.4", source="NCIT:C41354"} ! yaws relationship: disease_has_feature HP:0000962 ! Hyperkeratosis [Term] @@ -15995,7 +16019,7 @@ xref: SCTID:266646002 {source="DOID:10688"} xref: SCTID:372281005 {source="DOID:10688", source="MONDO:equivalentTo"} xref: SCTID:43336006 {source="DOID:10688"} xref: UMLS:C0020565 {source="MEDGEN:43789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002657 {source="DOID:10688", source="NCIT:C3125/inferred"} ! breast disorder +is_a: MONDO:0002657 {source="DOID:10688", source="ICD10CM:N62", source="NCIT:C3125/inferred"} ! breast disorder [Term] id: MONDO:0001101 @@ -17917,7 +17941,9 @@ xref: NCIT:C5707 {source="MONDO:equivalentTo", source="DOID:1108"} xref: ONCOTREE:ESMM {source="MONDO:equivalentTo"} xref: UMLS:C1333460 {source="MEDGEN:272590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005105 {source="DOID:1108", source="MONDO:Entailed", source="NCIT:C5707/inferred"} ! melanoma +is_a: MONDO:0007576 {source="DOID:1108", source="NCIT:C5707"} ! esophageal cancer is_a: MONDO:0021355 {source="MONDO:Entailed", source="NCIT:C5707/inferred"} ! neoplasm of esophagus +is_a: MONDO:0045070 {source="NCIT:C5707"} ! digestive system melanoma intersection_of: MONDO:0005105 ! melanoma intersection_of: disease_has_location UBERON:0001043 ! esophagus relationship: disease_has_location UBERON:0001043 {source="NCIT:C5707"} ! esophagus @@ -19585,6 +19611,7 @@ xref: SCTID:189167009 {source="MONDO:equivalentTo", source="DOID:1138"} xref: UMLS:C0347515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87576"} is_a: MONDO:0001279 {source="DOID:1138", source="NCIT:C6935"} ! intraspinal meningioma is_a: MONDO:0016642 {source="DOID:1138", source="MONDO:Entailed", source="NCIT:C6935/inferred"} ! meningioma +is_a: MONDO:0021234 {source="NCIT:C6935"} ! spinal cord neoplasm intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0002240 ! spinal cord property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma" xsd:anyURI {source="GARD:0010264"} @@ -20778,6 +20805,7 @@ xref: ICD9:374.54 {source="DOID:11669", source="MONDO:equivalentTo", source="MON xref: MEDGEN:509853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:79830009 {source="DOID:11669", source="MONDO:equivalentTo"} xref: UMLS:C0155213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509853"} +is_a: MONDO:0003382 {source="DOID:11669"} ! eyelid disorder is_a: MONDO:0019280 {source="DOID:11669", source="MONDO:Redundant"} ! hypertrichosis intersection_of: MONDO:0019280 ! hypertrichosis intersection_of: disease_has_location UBERON:0001711 ! eyelid @@ -20796,6 +20824,7 @@ xref: SCTID:193959007 {source="DOID:11671"} xref: SCTID:70738004 {source="MONDO:equivalentTo", source="DOID:11671"} xref: UMLS:C0155214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509854"} is_a: MONDO:0003037 {source="DOID:11671", source="MONDO:Redundant"} ! hypotrichosis +is_a: MONDO:0003382 {source="DOID:11671"} ! eyelid disorder intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_location UBERON:0001711 ! eyelid relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11671", source="https://orcid.org/0000-0001-5208-3432"} ! eyelid degenerative disorder @@ -20920,6 +20949,7 @@ xref: SCTID:387842002 {source="DOID:117"} xref: SCTID:93825008 {source="DOID:117"} xref: UMLS:C0153500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57787"} is_a: MONDO:0002100 {source="DOID:117", source="MONDO:Redundant", source="NCIT:C3548"} ! cardiovascular cancer +is_a: MONDO:0003274 {source="NCIT:C3548"} ! thoracic cancer is_a: MONDO:0005267 {source="DOID:117", source="MESH:D006338", source="MONDO:Redundant", source="NCIT:C3548/inferred"} ! heart disorder is_a: MONDO:0021209 {source="MONDO:Redundant", source="NCIT:C3548"} ! heart neoplasm intersection_of: MONDO:0004992 ! cancer @@ -22180,7 +22210,7 @@ xref: SCTID:134214003 {source="DOID:1192"} xref: SCTID:189946005 {source="DOID:1192"} xref: SCTID:189953001 {source="DOID:1192"} xref: UMLS:C0031118 {source="MONDO:equivalentTo", source="MEDGEN:45817", source="MONDO:MEDGEN"} -is_a: MONDO:0003620 {source="MESH:D010524", source="MONDO:Redundant", source="NCIT:C3321"} ! peripheral nervous system disorder +is_a: MONDO:0003620 {source="DOID:1192", source="MESH:D010524", source="MONDO:Redundant", source="NCIT:C3321"} ! peripheral nervous system disorder is_a: MONDO:0005070 {source="DOID:1192/inferred", source="MESH:D010524/inferred", source="MONDO:0001406/inferred", source="MONDO:Redundant", source="NCIT:C3321/inferred"} ! neoplasm is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C3321"} ! nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm @@ -22516,6 +22546,7 @@ xref: NCIT:C5122 {source="DOID:1201", source="MONDO:equivalentTo", source="MONDO xref: SCTID:126971002 {source="DOID:1201", source="MONDO:equivalentTo"} xref: UMLS:C1263897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226812"} is_a: MONDO:0002633 {source="DOID:1201", source="MONDO:Redundant", source="NCIT:C5122"} ! cranial nerve neoplasm +is_a: MONDO:0003543 {source="NCIT:C5122"} ! trigeminal nerve disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve @@ -23396,7 +23427,7 @@ xref: MEDGEN:278071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6925 {source="DOID:12239", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:255084004 {source="DOID:12239", source="MONDO:equivalentTo"} xref: UMLS:C1412037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:278071"} -is_a: MONDO:0002529 {source="DOID:12239", source="MONDO:Redundant"} ! skin squamous cell carcinoma +is_a: MONDO:0002529 {source="DOID:12239", source="MONDO:Redundant", source="NCIT:C6925"} ! skin squamous cell carcinoma is_a: MONDO:0002941 {source="DOID:12239", source="MONDO:Redundant", source="NCIT:C6925"} ! anal margin carcinoma is_a: MONDO:0006082 {source="MONDO:Redundant", source="NCIT:C6925"} ! anal squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma @@ -23901,7 +23932,7 @@ xref: MEDGEN:233407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7353 {source="DOID:12339", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:422853008 {source="MONDO:equivalentTo"} xref: UMLS:C1335779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233407"} -is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C7353/inferred"} ! lymphoma +is_a: MONDO:0005062 {source="DOID:12339", source="MONDO:Redundant", source="NCIT:C7353/inferred"} ! lymphoma is_a: MONDO:0005941 {source="DOID:12339", source="NCIT:C7353"} ! retroperitoneal cancer intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space @@ -24055,6 +24086,7 @@ xref: SCTID:34243007 {source="DOID:12357"} xref: SCTID:409711008 {source="MONDO:equivalentTo", source="DOID:12357"} xref: UMLS:C0155508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509997"} is_a: MONDO:0002008 {source="DOID:12357", source="DOID:12357/inferred", source="MONDO:Redundant"} ! labyrinthitis +is_a: MONDO:0005108 {source="DOID:12357"} ! viral infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses intersection_of: disease_has_inflammation_site UBERON:0001846 ! internal ear @@ -24395,6 +24427,7 @@ xref: SCTID:363447008 {source="DOID:1243", source="MONDO:equivalentTo"} xref: SCTID:93851005 {source="DOID:1243"} xref: UMLS:C0496815 {source="MEDGEN:96921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001528 {source="DOID:1243", source="MONDO:Redundant", source="NCIT:C7637"} ! vulva cancer +is_a: MONDO:0002898 {source="DOID:1243"} ! skin cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0004014 ! labium minora @@ -24657,6 +24690,7 @@ xref: MEDGEN:102372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:193427006 {source="DOID:12510"} xref: SCTID:26468004 {source="MONDO:equivalentTo", source="DOID:12510"} xref: UMLS:C0162291 {source="MEDGEN:102372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005053 {source="DOID:12510"} ! ischemic disease is_a: MONDO:0005283 {source="DOID:12510", source="MONDO:Redundant"} ! retinal disorder intersection_of: MONDO:0005053 ! ischemic disease intersection_of: disease_has_location UBERON:0000966 ! retina @@ -25011,7 +25045,7 @@ xref: SCTID:74859007 {source="DOID:12581"} xref: SCTID:77299006 {source="DOID:12581"} xref: UMLS:C0263962 {source="MEDGEN:538225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002183 {source="DOID:12581"} ! enthesopathy -is_a: MONDO:0002471 {source="https://orcid.org/0000-0002-0736-9199"} ! bursitis +is_a: MONDO:0002471 {source="DOID:12581", source="https://orcid.org/0000-0002-0736-9199"} ! bursitis intersection_of: MONDO:0002471 ! bursitis intersection_of: disease_has_location UBERON:0001490 ! elbow joint @@ -25879,6 +25913,7 @@ xref: ICD9:084.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID: xref: MEDGEN:508870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:19341001 {source="MONDO:equivalentTo", source="DOID:12919"} xref: UMLS:C0152072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:508870"} +is_a: MONDO:0005136 {source="DOID:12919", source="ICD10CM:B53.0"} ! malaria intersection_of: MONDO:0005136 ! malaria intersection_of: disease_has_infectious_agent NCBITaxon:36330 ! Plasmodium ovale @@ -26311,7 +26346,7 @@ xref: MEDGEN:509845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:193939008 {source="DOID:13037"} xref: SCTID:21783006 {source="MONDO:equivalentTo", source="DOID:13037"} xref: UMLS:C0155198 {source="MEDGEN:509845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001604 {source="DOID:13037"} ! lagophthalmos +is_a: MONDO:0001604 {source="DOID:13037", source="ICD10CM:H02.22"} ! lagophthalmos [Term] id: MONDO:0001623 @@ -26327,7 +26362,7 @@ xref: MEDGEN:509846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:193940005 {source="DOID:13038"} xref: SCTID:9042000 {source="DOID:13038"} xref: UMLS:C0155199 {source="MEDGEN:509846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001604 {source="DOID:13038"} ! lagophthalmos +is_a: MONDO:0001604 {source="DOID:13038", source="ICD10CM:H02.21"} ! lagophthalmos property_value: IAO:0000589 "cicatricial lagophthalmos (disease)" xsd:string [Term] @@ -26481,6 +26516,7 @@ xref: MESH:D014715 {source="DOID:13095", source="MONDO:directSiblingOf"} xref: NCIT:C35123 {source="MONDO:equivalentTo"} xref: SCTID:34781003 {source="MONDO:equivalentTo"} xref: UMLS:C0042560 {source="MEDGEN:22638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000473 {source="DOID:13095"} ! arterial disorder is_a: MONDO:0002254 {source="DOID:13095", source="MONDO:Redundant", source="NCIT:C35123"} ! syndromic disease is_a: MONDO:0005264 {source="DOID:13095"} ! transient ischemic attack intersection_of: MONDO:0020674 ! vascular insufficiency disorder @@ -26775,7 +26811,7 @@ xref: NCIT:C27107 {source="MONDO:equivalentTo", source="DOID:13147"} xref: SCTID:235602008 {source="MONDO:equivalentTo", source="DOID:13147"} xref: UMLS:C0341109 {source="MEDGEN:90960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001409 {source="DOID:13147", source="MONDO:Redundant", source="NCIT:C27107"} ! esophagitis -is_a: MONDO:0002041 {source="NCIT:C27107"} ! fungal infectious disease +is_a: MONDO:0002041 {source="DOID:13147", source="NCIT:C27107"} ! fungal infectious disease intersection_of: MONDO:0001409 ! esophagitis intersection_of: MONDO:0005550 ! infectious disease intersection_of: transmitted_by NCBITaxon:4751 ! Fungi @@ -26799,6 +26835,7 @@ xref: SCTID:266628008 {source="DOID:13148"} xref: SCTID:68226007 {source="MONDO:equivalentTo", source="DOID:13148"} xref: UMLS:C0149523 {source="MEDGEN:57429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005247 {source="https://github.com/monarch-initiative/mondo/issues/841"} ! bacterial urinary tract infection +is_a: MONDO:0006032 {source="DOID:13148"} ! cystitis intersection_of: MONDO:0006032 ! cystitis intersection_of: has_characteristic PATO:0000389 ! acute relationship: disease_has_feature HP:0002027 {source="MONDO:Wikidata"} ! Abdominal pain @@ -27141,6 +27178,7 @@ xref: DOID:13227 {source="MONDO:equivalentTo"} xref: ICD9:362.77 {source="DOID:13227", source="MONDO:equivalentTo"} xref: MEDGEN:1720702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0154866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720702"} +is_a: MONDO:0019118 {source="DOID:13227"} ! inherited retinal dystrophy intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane @@ -27370,7 +27408,7 @@ xref: DOID:133 {source="MONDO:equivalentTo"} xref: MEDGEN:276952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40255 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:133"} xref: UMLS:C1519926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276952"} -is_a: MONDO:0000647 {source="MONDO:Redundant", source="NCIT:C40255"} ! benign vaginal neoplasm +is_a: MONDO:0000647 {source="DOID:133", source="MONDO:Redundant", source="NCIT:C40255"} ! benign vaginal neoplasm is_a: MONDO:0001704 {source="DOID:133", source="MONDO:Redundant", source="NCIT:C40255"} ! vaginal glandular neoplasm is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C40255"} ! papilloma intersection_of: MONDO:0000647 {source="NCIT:C40255"} ! benign vaginal neoplasm @@ -27769,6 +27807,7 @@ xref: MEDGEN:275574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40250 {source="MONDO:equivalentTo", source="DOID:134"} xref: UMLS:C1519921 {source="MEDGEN:275574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0021050 {source="MONDO:Redundant", source="NCIT:C40250"} ! vaginal neoplasm +is_a: MONDO:0024276 {source="NCIT:C40250"} ! glandular cell neoplasm intersection_of: MONDO:0024276 {source="NCIT:C40250"} ! glandular cell neoplasm intersection_of: disease_has_location UBERON:0000996 {source="NCIT:C40250"} ! vagina @@ -28596,6 +28635,7 @@ xref: MEDGEN:277498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6068 {source="DOID:1355", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335339 {source="MONDO:equivalentTo", source="MEDGEN:277498", source="MONDO:MEDGEN"} is_a: MONDO:0005062 {source="DOID:1355", source="MONDO:Redundant", source="NCIT:C6068/inferred"} ! lymphoma +is_a: MONDO:0020669 {source="NCIT:C6068"} ! paranasal sinus cancer intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus relationship: excluded_subClassOf MONDO:0000380 {source="DOID:1355", source="https://orcid.org/0000-0001-5208-3432"} ! paranasal sinus carcinoma @@ -29199,6 +29239,7 @@ xref: SCTID:155934005 {source="DOID:13689"} xref: SCTID:85324003 {source="DOID:13689", source="MONDO:equivalentTo"} xref: SCTID:95592006 {source="DOID:13689"} xref: UMLS:C0149525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57431"} +is_a: MONDO:0003105 {source="DOID:13689"} ! prostate disorder is_a: MONDO:0004828 {source="DOID:13689", source="MONDO:Redundant"} ! lower urinary tract calculus intersection_of: MONDO:0004828 ! lower urinary tract calculus intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -29247,6 +29288,7 @@ xref: SCTID:201325006 {source="DOID:13691"} xref: SCTID:276729007 {source="DOID:13691", source="MONDO:equivalentTo"} xref: UMLS:C0349502 {source="MONDO:equivalentTo", source="MEDGEN:91148", source="MONDO:MEDGEN"} is_a: MONDO:0002378 {source="DOID:13691", source="MONDO:Redundant", source="NCIT:C4632"} ! dermoid cyst +is_a: MONDO:0002531 {source="DOID:13691"} ! skin neoplasm intersection_of: MONDO:0002378 ! dermoid cyst intersection_of: disease_has_location UBERON:0000014 ! zone of skin relationship: excluded_subClassOf MONDO:0002898 {source="DOID:13691", source="https://orcid.org/0000-0001-5208-3432"} ! skin cancer @@ -29356,6 +29398,7 @@ xref: icd11.foundation:1402842599 {source="MONDO:equivalentTo"} xref: MEDGEN:538723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0264643 {source="MEDGEN:538723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000959 {source="DOID:13730"} ! malignant hypertensive renal disease +is_a: MONDO:0001105 {source="DOID:13730"} ! renal hypertension is_a: MONDO:0001785 {source="DOID:13730", source="MONDO:Redundant"} ! malignant secondary hypertension intersection_of: MONDO:0001105 ! renal hypertension intersection_of: MONDO:0006846 ! malignant hypertension @@ -31178,6 +31221,7 @@ xref: NCIT:C5826 {source="MONDO:equivalentTo", source="DOID:14125"} xref: SCTID:126972009 {source="MONDO:equivalentTo", source="DOID:14125"} xref: UMLS:C1263898 {source="MEDGEN:224732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002633 {source="DOID:14125", source="MONDO:Redundant", source="NCIT:C5826"} ! cranial nerve neoplasm +is_a: MONDO:0020594 {source="NCIT:C5826"} ! abducens nerve disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001646 ! abducens nerve @@ -31836,7 +31880,7 @@ xref: ICD9:362.73 {source="MONDO:equivalentTo", source="DOID:14251", source="MON xref: MEDGEN:509690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:79556007 {source="MONDO:equivalentTo", source="DOID:14251"} xref: UMLS:C0154863 {source="MEDGEN:509690", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019118 {source="DOID:14251"} ! inherited retinal dystrophy +is_a: MONDO:0019118 {source="DOID:14251", source="ICD10CM:H35.51"} ! inherited retinal dystrophy [Term] id: MONDO:0001924 @@ -31849,7 +31893,7 @@ xref: icd11.foundation:1387676300 {source="MONDO:equivalentTo"} xref: ICD9:362.76 {source="MONDO:relatedTo", source="DOID:14252"} xref: MEDGEN:1843460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0154865 {source="MEDGEN:1843460", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019118 {source="DOID:14252"} ! inherited retinal dystrophy +is_a: MONDO:0019118 {source="DOID:14252", source="ICD10CM:H35.54"} ! inherited retinal dystrophy relationship: disease_has_location UBERON:0001782 ! pigmented layer of retina [Term] @@ -32999,6 +33043,7 @@ xref: MEDGEN:233146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5367 {source="MONDO:equivalentTo", source="DOID:14534"} xref: UMLS:C1334569 {source="MONDO:equivalentTo", source="MEDGEN:233146", source="MONDO:MEDGEN"} is_a: MONDO:0001340 {source="MONDO:Redundant", source="NCIT:C5367", source="NCIT:C5367/inferred"} ! heart cancer +is_a: MONDO:0003354 {source="NCIT:C5367"} ! heart sarcoma is_a: MONDO:0017827 {source="DOID:14534", source="NCIT:C5367"} ! malignant peripheral nerve sheath tumor [Term] @@ -33024,6 +33069,8 @@ xref: MEDGEN:233143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5371 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14535"} xref: UMLS:C1334566 {source="MEDGEN:233143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001340 {source="DOID:14535", source="MONDO:Redundant", source="NCIT:C5371"} ! heart cancer +is_a: MONDO:0003113 {source="NCIT:C5371"} ! extragonadal germ cell cancer +is_a: MONDO:0020589 {source="NCIT:C5371"} ! cardiac germ cell tumor intersection_of: MONDO:0006290 ! malignant germ cell tumor intersection_of: disease_has_location UBERON:0000948 ! heart @@ -33124,6 +33171,7 @@ xref: SCTID:707355002 {source="MONDO:equivalentTo"} xref: UMLS:C1336039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234802"} is_a: MONDO:0001994 {source="DOID:14547", source="MONDO:Redundant", source="NCIT:C6066"} ! sphenoidal sinus cancer is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6066/inferred"} ! head and neck squamous cell carcinoma +is_a: MONDO:0044705 {source="NCIT:C6066"} ! paranasal sinus squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus @@ -33381,7 +33429,7 @@ xref: OMIMPS:305450 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="MONDO:equivalentObsolete", source="GARD:0002317", source="DOID:14711"} xref: SCTID:49984004 {source="MONDO:equivalentTo", source="DOID:14711"} xref: UMLS:C0220769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113106"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14711", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305450"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome" xsd:anyURI {source="GARD:0002317"} @@ -33483,6 +33531,7 @@ xref: DOID:14759 {source="MONDO:equivalentTo"} xref: MEDGEN:541287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:70610001 {source="DOID:14759", source="MONDO:equivalentTo"} xref: UMLS:C0268340 {source="MEDGEN:541287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:14759"} ! autosomal recessive disease is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="https://www.ncbi.nlm.nih.gov/books/NBK1494/"} ! Ehlers-Danlos syndrome, vascular type intersection_of: MONDO:0017314 ! Ehlers-Danlos syndrome, vascular type intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -33783,6 +33832,7 @@ xref: SCTID:269533000 {source="DOID:1520", source="MONDO:equivalentTo"} xref: UMLS:C0699790 {source="MEDGEN:147065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4910/inferred"} ! digestive system carcinoma is_a: MONDO:0021063 {source="DOID:1520", source="MONDO:Redundant", source="NCIT:C4910"} ! malignant colon neoplasm +is_a: MONDO:0024331 {source="NCIT:C4910"} ! colorectal carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -33864,6 +33914,7 @@ xref: UMLS:C0519037 {source="MEDGEN:101033", source="MONDO:equivalentTo", source is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4793/inferred"} ! gastrointestinal lymphoma is_a: MONDO:0005062 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793/inferred"} ! lymphoma is_a: MONDO:0021063 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793"} ! malignant colon neoplasm +is_a: MONDO:0024656 {source="NCIT:C4793"} ! colorectal lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -33939,7 +33990,7 @@ xref: MEDGEN:854345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35850 {source="MONDO:equivalentTo"} xref: NCIT:C6077 {source="DOID:1542"} xref: UMLS:C3887461 {source="MEDGEN:854345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C35850"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:1542", source="MONDO:Redundant", source="NCIT:C35850"} ! carcinoma is_a: MONDO:0005627 {source="DOID:1542", source="MONDO:Redundant", source="NCIT:C35850"} ! head and neck cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0007811 ! craniocervical region @@ -33964,7 +34015,7 @@ xref: SCTID:106014008 {source="DOID:1561"} xref: SCTID:111479008 {source="DOID:1561"} xref: SCTID:443265004 {source="MONDO:equivalentTo"} xref: UMLS:C0009241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40371"} -is_a: MONDO:0002025 {source="MESH:D019965", source="MONDO:Redundant", source="NCIT:C92196"} ! psychiatric disorder +is_a: MONDO:0002025 {source="DOID:1561", source="MESH:D019965", source="MONDO:Redundant", source="NCIT:C92196"} ! psychiatric disorder intersection_of: MONDO:0002025 ! psychiatric disorder intersection_of: disease_disrupts MF:0000008 ! cognitive process @@ -34138,7 +34189,7 @@ xref: MEDGEN:573414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:196133001 {source="MONDO:equivalentTo", source="DOID:1578"} xref: UMLS:C0339904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:573414"} is_a: MONDO:0005100 {source="DOID:1578"} ! systemic sclerosis -is_a: MONDO:0005275 {source="MONDO:Redundant"} ! lung disorder +is_a: MONDO:0005275 {source="DOID:1578", source="MONDO:Redundant"} ! lung disorder relationship: disease_has_location UBERON:0002048 ! lung [Term] @@ -34386,6 +34437,7 @@ xref: SCTID:269640007 {source="DOID:1625"} xref: UMLS:C1328385 {source="MEDGEN:231286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000620 {source="DOID:1625", source="NCIT:C40382"} ! breast benign neoplasm is_a: MONDO:0004972 {source="DOID:1625", source="MONDO:Redundant", source="NCIT:C40382"} ! adenoma +is_a: MONDO:0036976 {source="NCIT:C40382"} ! benign epithelial neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0000310 ! breast @@ -34993,7 +35045,7 @@ xref: SCTID:193380009 {source="DOID:1729"} xref: SCTID:267717005 {source="DOID:1729"} xref: SCTID:73757007 {source="DOID:1729", source="MONDO:equivalentTo"} xref: UMLS:C0035326 {source="MEDGEN:19762", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002311 {source="NCIT:C34980"} ! retinal vascular disorder +is_a: MONDO:0002311 {source="DOID:1729", source="NCIT:C34980"} ! retinal vascular disorder intersection_of: MONDO:0020672 ! vascular occlusion disorder intersection_of: disease_has_location UBERON:0000966 ! retina relationship: disease_has_location UBERON:0004864 ! vasculature of retina @@ -35273,7 +35325,7 @@ xref: MEDGEN:858066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C114940 {source="MONDO:equivalentTo"} xref: NCIT:C4784 {source="DOID:176"} xref: UMLS:C3898472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:858066"} -is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDO:Redundant", source="NCIT:C114940"} ! cancer is_a: MONDO:0024757 {source="MONDO:Redundant", source="NCIT:C114940"} ! cardiovascular neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system @@ -35319,6 +35371,7 @@ xref: MEDGEN:224733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5827 {source="DOID:1760", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:126973004 {source="DOID:1760", source="MONDO:equivalentTo"} xref: UMLS:C1263899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224733"} +is_a: MONDO:0002098 {source="NCIT:C5827"} ! facial nerve disorder is_a: MONDO:0002633 {source="DOID:1760", source="MONDO:Redundant", source="NCIT:C5827"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001647 ! facial nerve @@ -35472,6 +35525,7 @@ xref: SCTID:94098005 {source="DOID:1781"} xref: UMLS:C0007115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2869"} is_a: MONDO:0003240 {source="DOID:1781", source="MONDO:Redundant", source="NCIT:C7510/inferred"} ! thyroid gland disorder is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C7510"} ! thyroid tumor +is_a: MONDO:0021069 {source="DOID:1781"} ! malignant endocrine neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -35522,6 +35576,7 @@ xref: UMLS:C0496842 {source="MEDGEN:96922", source="MONDO:equivalentTo", source= is_a: MONDO:0002071 {source="MONDO:Redundant", source="NCIT:C4769"} ! supratentorial cancer is_a: MONDO:0003381 {source="DOID:1785", source="MONDO:Redundant", source="NCIT:C4769/inferred"} ! pituitary gland disorder is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4769"} ! pituitary tumor +is_a: MONDO:0021069 {source="DOID:1785"} ! malignant endocrine neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000007 ! pituitary gland @@ -35560,6 +35615,7 @@ xref: MEDGEN:87540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7354 {source="MONDO:equivalentTo"} xref: NCIT:C7633 {source="DOID:1789"} xref: UMLS:C0346113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87540"} +is_a: MONDO:0000650 {source="DOID:1789", source="NCIT:C7354"} ! peritoneal benign neoplasm is_a: MONDO:0006362 {source="MONDO:Redundant", source="NCIT:C7354", source="https://orcid.org/0000-0002-6601-2165"} ! peritoneal mesothelioma intersection_of: MONDO:0002373 ! benign mesothelioma intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -35577,6 +35633,8 @@ xref: MEDGEN:756216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40022 {source="DOID:1791", source="MONDO:relatedTo"} xref: SCTID:447781009 {source="MONDO:equivalentTo"} xref: UMLS:C3163804 {source="MEDGEN:756216", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002087 {source="DOID:1791"} ! peritoneum cancer +is_a: MONDO:0004993 {source="DOID:1791"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -36025,6 +36083,8 @@ xref: NCIT:C155790 {source="https://orcid.org/0009-0001-6494-4831", source="MOND xref: SCTID:126538005 {source="MONDO:relatedTo", source="DOID:1863"} xref: UMLS:C2062986 {source="MEDGEN:1662558", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002129 {source="DOID:1863", source="MONDO:Redundant"} ! bone cancer +is_a: MONDO:0005627 {source="NCIT:C155790"} ! head and neck cancer +is_a: MONDO:0024653 {source="NCIT:C155790"} ! skull neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003129 ! skull @@ -36623,7 +36683,7 @@ xref: MEDGEN:274488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40128 {source="MONDO:equivalentTo", source="DOID:1965", source="MONDO:exact-label-match"} xref: UMLS:C1517116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274488"} is_a: MONDO:0002158 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128"} ! fallopian tube cancer -is_a: MONDO:0005058 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:1965", source="MONDO:Redundant", source="NCIT:C40128", source="NCIT:C40128/inferred"} ! leiomyosarcoma is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C40128"} ! soft tissue sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -36655,6 +36715,7 @@ xref: DOID:1973 {source="MONDO:equivalentTo"} xref: MEDGEN:275872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40125 {source="DOID:1973", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1517121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275872"} +is_a: MONDO:0002158 {source="NCIT:C40125"} ! fallopian tube cancer is_a: MONDO:0005636 {source="DOID:1973", source="MONDO:Redundant", source="NCIT:C40125"} ! adenosarcoma intersection_of: MONDO:0005636 ! adenosarcoma intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -36770,6 +36831,7 @@ xref: SCTID:276822007 {source="DOID:1992", source="MONDO:equivalentTo"} xref: UMLS:C0349539 {source="MEDGEN:87605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005105 {source="DOID:1992", source="MONDO:Entailed", source="NCIT:C4640/inferred"} ! melanoma is_a: MONDO:0006519 {source="DOID:1992", source="NCIT:C4640"} ! rectal cancer +is_a: MONDO:0045070 {source="NCIT:C4640"} ! digestive system melanoma intersection_of: MONDO:0005105 ! melanoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -36810,6 +36872,7 @@ xref: SCTID:254582000 {source="EFO:0005631", source="MONDO:equivalentTo", source xref: UMLS:C0149978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56214"} is_a: MONDO:0005008 {source="DOID:1996", source="MONDO:Redundant", source="NCIT:C9383", source="ONCOTREE:READ"} ! colorectal adenocarcinoma is_a: MONDO:0006519 {source="DOID:1996", source="MONDO:Entailed", source="NCIT:C9383/inferred"} ! rectal cancer +is_a: MONDO:0044937 {source="NCIT:C9383"} ! rectal carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001052 ! rectum relationship: disease_has_location UBERON:0001052 {source="EFO:0000784"} ! rectum @@ -36887,7 +36950,7 @@ xref: SCTID:194270001 {source="DOID:2000"} xref: SCTID:270491006 {source="DOID:2000", source="MONDO:equivalentTo"} xref: SCTID:35349000 {source="DOID:2000"} xref: UMLS:C0155428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509960"} -is_a: MONDO:0004866 {source="DOID:2000", source="MONDO:Redundant"} ! eustachian tube disorder +is_a: MONDO:0004866 {source="DOID:2000", source="ICD10CM:H68.0", source="MONDO:Redundant"} ! eustachian tube disorder is_a: MONDO:0021166 {source="MONDO:Redundant"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_inflammation_site UBERON:0002393 ! pharyngotympanic tube @@ -37034,6 +37097,7 @@ xref: SCTID:126920004 {source="MONDO:equivalentTo"} xref: SCTID:188187004 {source="DOID:2021"} xref: SCTID:449421003 {source="DOID:2021"} xref: UMLS:C0153572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56310"} +is_a: MONDO:0002715 {source="DOID:2021"} ! uterine cancer is_a: MONDO:0005917 {source="DOID:2021", source="MONDO:Redundant", source="NCIT:C3555/inferred"} ! placenta disorder is_a: MONDO:0021218 {source="MONDO:Redundant", source="NCIT:C3555"} ! placenta neoplasm intersection_of: MONDO:0004992 ! cancer @@ -37364,7 +37428,8 @@ xref: UMLS:C1510791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000626 {source="DOID:2075", source="MONDO:Entailed", source="MONDO:Redundant"} ! vestibular gland benign neoplasm is_a: MONDO:0000643 {source="DOID:2075", source="MONDO:Redundant", source="NCIT:C40301"} ! vulvar benign neoplasm is_a: MONDO:0002198 {source="DOID:2075", source="NCIT:C40301"} ! vulvar glandular neoplasm -is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40301"} ! adenoma +is_a: MONDO:0004972 {source="DOID:2075", source="MONDO:Redundant", source="NCIT:C40301"} ! adenoma +is_a: MONDO:0036976 {source="NCIT:C40301"} ! benign epithelial neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0000461 ! minor vestibular gland @@ -37395,7 +37460,7 @@ xref: DOID:2078 {source="MONDO:equivalentTo"} xref: MEDGEN:267714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40302 {source="DOID:2078", source="MONDO:equivalentTo"} xref: UMLS:C1511091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:267714"} -is_a: MONDO:0000643 {source="NCIT:C40302"} ! vulvar benign neoplasm +is_a: MONDO:0000643 {source="DOID:2078", source="NCIT:C40302"} ! vulvar benign neoplasm [Term] id: MONDO:0002200 @@ -37445,6 +37510,7 @@ xref: MEDGEN:274418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40314 {source="MONDO:equivalentTo", source="DOID:2080", source="MONDO:exact-label-match"} xref: UMLS:C1520100 {source="MEDGEN:274418", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000643 {source="DOID:2080", source="NCIT:C40314"} ! vulvar benign neoplasm +is_a: MONDO:0020593 {source="NCIT:C40314"} ! trichoblastoma intersection_of: MONDO:0020593 ! trichoblastoma intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -37927,7 +37993,7 @@ xref: DOID:2150 {source="MONDO:equivalentTo"} xref: MEDGEN:276669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40021 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2150"} xref: UMLS:C1518720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276669"} -is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C40021/inferred"} ! lymphoma +is_a: MONDO:0005062 {source="DOID:2150", source="MONDO:Redundant", source="NCIT:C40021/inferred"} ! lymphoma is_a: MONDO:0008170 {source="DOID:2150", source="NCIT:C40021"} ! ovarian cancer intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -38099,7 +38165,7 @@ xref: Orphanet:98580 {source="MONDO:equivalentObsolete"} xref: SCTID:278697001 {source="MONDO:equivalentTo", source="DOID:2173"} xref: UMLS:C0015424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:41939"} is_a: MONDO:0002531 {source="DOID:2173", source="EFO:1000934", source="MONDO:Entailed"} ! skin neoplasm -is_a: MONDO:0003382 {source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="Orphanet:98580"} ! eyelid disorder +is_a: MONDO:0003382 {source="DOID:2173", source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="Orphanet:98580"} ! eyelid disorder is_a: MONDO:0005586 {source="MONDO:Redundant"} ! head and neck neoplasm is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3031"} ! eye neoplasm intersection_of: MONDO:0005070 ! neoplasm @@ -38416,6 +38482,7 @@ xref: NCIT:C34413 {source="MONDO:equivalentTo", source="DOID:223"} xref: SCTID:195197005 {source="DOID:223"} xref: SCTID:64009001 {source="MONDO:equivalentTo", source="DOID:223"} xref: UMLS:C0004812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14039"} +is_a: MONDO:0000473 {source="DOID:223"} ! arterial disorder is_a: MONDO:0002254 {source="DOID:223", source="MONDO:Redundant", source="NCIT:C34413"} ! syndromic disease intersection_of: MONDO:0020674 ! vascular insufficiency disorder intersection_of: disease_has_location UBERON:0001633 ! basilar artery @@ -38895,6 +38962,7 @@ xref: NCIT:C27184 {source="MONDO:equivalentTo", source="DOID:2327"} xref: SCTID:285344007 {source="MONDO:equivalentTo", source="DOID:2327"} xref: UMLS:C0563238 {source="MEDGEN:107873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004966 {source="DOID:2327", source="MONDO:Redundant", source="NCIT:C27184"} ! gastritis +is_a: MONDO:0005108 {source="DOID:2327"} ! viral infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach @@ -39558,6 +39626,7 @@ xref: SCTID:707356001 {source="MONDO:equivalentTo"} xref: UMLS:C1333646 {source="MEDGEN:272639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001756 {source="DOID:2441", source="MONDO:Redundant", source="NCIT:C6067"} ! frontal sinus cancer is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6067/inferred"} ! head and neck squamous cell carcinoma +is_a: MONDO:0044705 {source="NCIT:C6067"} ! paranasal sinus squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001760 ! frontal sinus @@ -39928,6 +39997,7 @@ xref: MEDGEN:105425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C97172 {source="MONDO:equivalentTo"} xref: SCTID:204018008 {source="DOID:2490"} xref: UMLS:C0497552 {source="MONDO:equivalentTo", source="MEDGEN:105425", source="MONDO:MEDGEN"} +is_a: MONDO:0005071 {source="DOID:2490"} ! nervous system disorder intersection_of: MONDO:0700096 ! human disease intersection_of: disease_has_location UBERON:0001016 ! nervous system intersection_of: has_characteristic MONDO:0021140 ! congenital @@ -40258,7 +40328,7 @@ xref: SCTID:414388001 {source="DOID:2531"} xref: SCTID:414644002 {source="DOID:2531"} xref: UMLS:C1512393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268180"} is_a: MONDO:0005070 {source="DOID:2531/inferred", source="MESH:D019337/inferred", source="MONDO:Redundant", source="NCIT:C35813/inferred"} ! neoplasm -is_a: MONDO:0005570 {source="MESH:D019337", source="MONDO:Redundant"} ! hematologic disorder +is_a: MONDO:0005570 {source="DOID:2531", source="MESH:D019337", source="MONDO:Redundant"} ! hematologic disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system @@ -40722,7 +40792,7 @@ xref: SCTID:276975007 {source="DOID:2600", source="MONDO:equivalentTo"} xref: SCTID:93859007 {source="DOID:2600"} xref: UMLS:C0595989 {source="MEDGEN:108889", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002352 {source="DOID:2600", source="MONDO:Redundant", source="NCIT:C4855"} ! larynx cancer -is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C4855/inferred"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:2600", source="MONDO:Redundant", source="NCIT:C4855/inferred"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -40839,6 +40909,7 @@ xref: SCTID:82049002 {source="DOID:2615"} xref: UMLS:C0030354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10566"} is_a: MONDO:0005165 {source="DOID:2615", source="DOID:2615/inferred"} ! benign neoplasm is_a: MONDO:0021096 {source="NCIT:C7440"} ! papillary epithelial neoplasm +is_a: MONDO:0036976 {source="NCIT:C7440"} ! benign epithelial neoplasm [Term] id: MONDO:0002364 @@ -41003,6 +41074,7 @@ xref: SCTID:189819001 {source="DOID:2636"} xref: SCTID:254859006 {source="MONDO:equivalentTo", source="DOID:2636"} xref: SCTID:74739000 {source="DOID:2636"} xref: UMLS:C5234884 {source="MEDGEN:1716777", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002229 {source="NCIT:C3872"} ! ovarian epithelial tumor is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C3872/inferred"} ! ovarian neoplasm is_a: MONDO:0024235 {source="MONDO:Redundant", source="NCIT:C3872"} ! Brenner tumor intersection_of: MONDO:0024235 ! Brenner tumor @@ -41368,7 +41440,7 @@ xref: SCTID:109844006 {source="MONDO:equivalentTo", source="DOID:268"} xref: SCTID:187770005 {source="DOID:268"} xref: UMLS:C0345907 {source="MEDGEN:138027", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002397 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438"} ! liver sarcoma -is_a: MONDO:0002405 {source="NCIT:C4438"} ! hepatic vascular disorder +is_a: MONDO:0002405 {source="DOID:268", source="NCIT:C4438"} ! hepatic vascular disorder is_a: MONDO:0016982 {source="DOID:268", source="MONDO:Redundant", source="NCIT:C4438/inferred"} ! angiosarcoma intersection_of: MONDO:0016982 ! angiosarcoma intersection_of: disease_has_location UBERON:0002107 ! liver @@ -41436,8 +41508,9 @@ xref: MEDGEN:137794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8383 {source="DOID:2697", source="MONDO:equivalentTo"} xref: SCTID:41627005 {source="DOID:2697"} xref: UMLS:C0334684 {source="MEDGEN:137794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002513 {source="DOID:2697", source="NCIT:C8383"} ! kidney benign neoplasm is_a: MONDO:0004180 {source="DOID:2697", source="MONDO:Redundant"} ! benign urinary system neoplasm -is_a: MONDO:0004972 {source="NCIT:C8383"} ! adenoma +is_a: MONDO:0004972 {source="DOID:2697", source="NCIT:C8383"} ! adenoma is_a: MONDO:0021163 {source="MONDO:Redundant", source="NCIT:C8383"} ! kidney neoplasm [Term] @@ -41470,7 +41543,7 @@ xref: MEDGEN:87522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4437 {source="MONDO:equivalentTo", source="DOID:270", source="MONDO:exact-label-match"} xref: SCTID:254601002 {source="MONDO:equivalentTo", source="DOID:270"} xref: UMLS:C0345906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87522"} -is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred"} ! liver cancer +is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437", source="NCIT:C4437/inferred"} ! liver cancer is_a: MONDO:0005089 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C4437"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma @@ -41488,6 +41561,7 @@ xref: NCIT:C8978 {source="MONDO:equivalentTo", source="DOID:2700", source="MONDO xref: SCTID:10705005 {source="DOID:2700"} xref: UMLS:C0334499 {source="MEDGEN:83158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006071 {source="DOID:2700", source="MONDO:Redundant", source="NCIT:C8978"} ! adenofibroma +is_a: MONDO:0024338 {source="NCIT:C8978"} ! mucinous neoplasm intersection_of: MONDO:0006071 ! adenofibroma intersection_of: MONDO:0024338 ! mucinous neoplasm @@ -41605,6 +41679,7 @@ xref: NCIT:C4090 {source="MONDO:equivalentTo", source="DOID:2705"} xref: SCTID:83950009 {source="DOID:2705"} xref: UMLS:C0334229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90745"} is_a: MONDO:0002171 {source="DOID:2705", source="MONDO:Redundant"} ! giant cell tumor +is_a: MONDO:0004992 {source="NCIT:C4090"} ! cancer intersection_of: MONDO:0002171 ! giant cell tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -41660,6 +41735,7 @@ is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3869/inferred"} ! be is_a: MONDO:0002337 {source="DOID:271", source="NCIT:C3869"} ! intra-abdominal hemangioma is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C3869/inferred"} ! hepatobiliary neoplasm is_a: MONDO:0005154 {source="DOID:271", source="MONDO:Redundant", source="NCIT:C3869/inferred"} ! liver disorder +is_a: MONDO:0024477 {source="DOID:271"} ! liver and intrahepatic bile duct neoplasm is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0002107 ! liver @@ -41749,7 +41825,7 @@ xref: SCTID:402867006 {source="DOID:2725"} xref: SCTID:56975005 {source="MONDO:equivalentTo", source="DOID:2725"} xref: SCTID:83343001 {source="DOID:2725"} xref: UMLS:C0206733 {source="MEDGEN:64643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006500 {source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:2725", source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457"} ! hemangioma disjoint_from: MONDO:0018715 ! congenital hemangioma [Term] @@ -41938,7 +42014,7 @@ xref: SCTID:154738008 {source="DOID:2749"} xref: SCTID:267498002 {source="DOID:2749"} xref: SCTID:7265005 {source="MONDO:equivalentTo", source="DOID:2749"} xref: UMLS:C0017920 {source="MEDGEN:6640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10CM:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DOID:0081329", source="DOID:2749", source="DOID:2749/inferred", source="ICD10CM:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:364"} ! metabolic disease relationship: disease_disrupts GO:0004346 ! glucose-6-phosphatase activity relationship: disease_has_feature HP:0002240 ! Hepatomegaly @@ -41981,6 +42057,7 @@ xref: DOID:2762 {source="MONDO:equivalentTo"} xref: NCIT:C36082 {source="MONDO:relatedTo", source="DOID:2762"} xref: SCTID:269568000 {source="DOID:2762"} is_a: MONDO:0002129 {source="DOID:2762", source="MONDO:Entailed", source="MONDO:Redundant"} ! bone cancer +is_a: MONDO:0004993 {source="DOID:2762"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001474 ! bone element @@ -42010,6 +42087,7 @@ xref: SCTID:707359008 {source="MONDO:equivalentTo"} xref: UMLS:C1333477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272596"} is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Redundant", source="NCIT:C6065"} ! ethmoid sinus cancer is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6065/inferred"} ! head and neck squamous cell carcinoma +is_a: MONDO:0044705 {source="NCIT:C6065"} ! paranasal sinus squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus @@ -42033,7 +42111,7 @@ xref: NCIT:C6237 {source="MONDO:equivalentTo", source="DOID:2766"} xref: UMLS:C1333472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272595"} is_a: MONDO:0001763 {source="DOID:2766", source="MONDO:Redundant", source="NCIT:C6237"} ! ethmoid sinus cancer is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6237/inferred"} ! head and neck carcinoma -is_a: MONDO:0004970 {source="DOID:2766/inferred", source="MONDO:Redundant", source="NCIT:C6237/inferred"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:2766", source="DOID:2766/inferred", source="MONDO:Redundant", source="NCIT:C6237/inferred"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell @@ -42585,6 +42663,7 @@ xref: SCTID:373905003 {source="DOID:2842", source="MONDO:equivalentTo"} xref: SCTID:49518001 {source="DOID:2842"} xref: UMLS:C0022387 {source="MEDGEN:5929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002442 {source="DOID:2842", source="MESH:D029593", source="NCIT:C84793"} ! long QT syndrome +is_a: MONDO:0019171 {source="Orphanet:90647"} ! familial long QT syndrome relationship: excluded_subClassOf MONDO:0019171 {source="MONDO:Redundant", source="Orphanet:90647", source="https://orcid.org/0000-0001-5208-3432"} ! familial long QT syndrome relationship: has_characteristic MONDO:0021152 {source="OMIMPS:220400"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome" xsd:anyURI {source="GARD:0003048"} @@ -42773,6 +42852,7 @@ is_a: MONDO:0000625 {source="DOID:2883", source="NCIT:C4795/inferred"} ! benign is_a: MONDO:0003105 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795/inferred"} ! prostate disorder is_a: MONDO:0004972 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795"} ! adenoma is_a: MONDO:0021510 {source="MONDO:Redundant", source="NCIT:C4795"} ! benign neoplasm of prostate +is_a: MONDO:0036976 {source="NCIT:C4795"} ! benign epithelial neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -42911,7 +42991,7 @@ xref: SCTID:62767009 {source="MONDO:equivalentTo"} xref: SCTID:82203000 {source="DOID:2908"} xref: UMLS:C0242387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66078"} is_a: MONDO:0000426 {source="DOID:2908", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75018"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:2908", source="MONDO:Redundant", source="NCIT:C75018"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:861"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015483 {source="Orphanet:861"} ! mandibulofacial dysostosis relationship: disease_has_feature HP:0000486 ! Strabismus @@ -42982,6 +43062,8 @@ xref: MEDGEN:272790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5102 {source="MONDO:equivalentTo", source="DOID:292"} xref: SCTID:416510003 {source="MONDO:equivalentTo", source="DOID:292"} xref: UMLS:C1334361 {source="MONDO:equivalentTo", source="MEDGEN:272790", source="MONDO:MEDGEN"} +is_a: MONDO:0001854 {source="DOID:292", source="NCIT:C5102"} ! lacrimal apparatus disorder +is_a: MONDO:0002236 {source="DOID:292"} ! ocular cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001750 ! lacrimal apparatus relationship: excluded_subClassOf MONDO:0002236 {source="DOID:292", source="https://orcid.org/0000-0001-5208-3432"} ! ocular cancer @@ -43164,7 +43246,7 @@ xref: SCTID:267761002 {source="DOID:2952"} xref: SCTID:267763004 {source="DOID:2952"} xref: SCTID:286945007 {source="DOID:2952"} xref: UMLS:C0494559 {source="MEDGEN:141671", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002409 {source="DOID:2952"} ! auditory system disorder +is_a: MONDO:0002409 {source="DOID:2952", source="ICD10CM:H80-H83"} ! auditory system disorder is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27166"} ! disorder of ear intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001846 ! internal ear @@ -43239,6 +43321,7 @@ xref: NANDO:1200626 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NCIT:C4924 {source="MONDO:relatedTo", source="DOID:2960"} xref: Orphanet:453 {source="MONDO:equivalentObsolete", source="GARD:0002944"} xref: UMLS:C1848412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336339"} +is_a: MONDO:0018053 {source="DOID:2960"} ! trichothiodystrophy intersection_of: MONDO:0018053 ! trichothiodystrophy intersection_of: disease_has_basis_in_disruption_of GO:0006289 ! nucleotide-excision repair intersection_of: realized_in_response_to ECTO:0000006 ! exposure to ultraviolet radiation @@ -43804,6 +43887,7 @@ xref: MEDGEN:313039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7967 {source="MONDO:equivalentTo"} xref: UMLS:C1707436 {source="MONDO:equivalentTo", source="MEDGEN:313039", source="MONDO:MEDGEN"} is_a: MONDO:0002271 {source="DOID:3033", source="MONDO:Redundant", source="NCIT:C7967"} ! colon adenocarcinoma +is_a: MONDO:0044336 {source="NCIT:C7967"} ! colorectal signet ring cell carcinoma intersection_of: MONDO:0005092 ! signet ring cell carcinoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -44138,6 +44222,7 @@ xref: EFO:0008550 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:208891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8614 {source="DOID:3117", source="MONDO:equivalentTo"} xref: UMLS:C0854196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208891"} +is_a: MONDO:0002515 {source="NCIT:C8614"} ! hepatobiliary disorder is_a: MONDO:0005070 {source="DOID:3117/inferred", source="EFO:0008550/inferred", source="MONDO:Redundant", source="NCIT:C8614/inferred"} ! neoplasm is_a: MONDO:0021223 {source="EFO:0008550", source="MONDO:Redundant", source="NCIT:C8614"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm @@ -44203,7 +44288,7 @@ xref: SCTID:428905002 {source="DOID:3119"} xref: SCTID:93811007 {source="DOID:3119"} xref: UMLS:C0751075 {source="MEDGEN:148231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004335 {source="DOID:3119", source="NCIT:C4890/inferred"} ! digestive system disorder -is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Redundant", source="NCIT:C4890"} ! cancer is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C4890"} ! digestive system neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001007 ! digestive system @@ -44550,7 +44635,7 @@ xref: SCTID:126488004 {source="DOID:3165", source="MONDO:equivalentTo"} xref: SCTID:363230005 {source="DOID:3165"} xref: UMLS:C0037286 {source="MEDGEN:19993", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005070 {source="DOID:3165/inferred", source="MESH:D012878/inferred", source="MONDO:Redundant", source="NCIT:C3372/inferred"} ! neoplasm -is_a: MONDO:0005093 {source="MESH:D012878", source="MONDO:Redundant", source="NCIT:C3372"} ! skin disorder +is_a: MONDO:0005093 {source="DOID:3165", source="MESH:D012878", source="MONDO:Redundant", source="NCIT:C3372"} ! skin disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -44593,7 +44678,7 @@ xref: NCIT:C79951 {source="MONDO:equivalentTo", source="DOID:3172"} xref: SCTID:189620009 {source="DOID:3172"} xref: SCTID:86143001 {source="DOID:3172"} xref: UMLS:C0205650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59999"} -is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C79951"} ! adenoma +is_a: MONDO:0004972 {source="DOID:3172", source="MONDO:Redundant", source="NCIT:C79951"} ! adenoma is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C79951"} ! papillary epithelial neoplasm intersection_of: MONDO:0004972 {source="NCIT:C79951"} ! adenoma intersection_of: MONDO:0021096 {source="NCIT:C79951"} ! papillary epithelial neoplasm @@ -44651,6 +44736,7 @@ is_a: MONDO:0002363 {source="DOID:3178", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0002531 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614/inferred"} ! skin neoplasm is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4614/inferred"} ! benign neoplasm of skin is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4614/inferred"} ! epithelial skin neoplasm +is_a: MONDO:0024666 {source="NCIT:C4614"} ! benign epithelial skin neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -45411,7 +45497,7 @@ is_a: MONDO:0002714 {source="DOID:3234/inferred", source="MONDO:Redundant", sour is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm is_a: MONDO:0004949 {source="ONCOTREE:PCNSL"} ! neoplasm of mature B-cells is_a: MONDO:0005062 {source="DOID:3234", source="EFO:1000157", source="MONDO:Redundant", source="NCIT:C9301/inferred"} ! lymphoma -is_a: MONDO:0017207 {source="Orphanet:46135"} ! primary organ-specific lymphoma +is_a: MONDO:0017207 {source="NCIT:C9301", source="Orphanet:46135"} ! primary organ-specific lymphoma is_a: MONDO:0017343 {source="Orphanet:46135"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: MONDO:0021248 {source="Orphanet:46135"} ! nervous system neoplasm intersection_of: MONDO:0005062 ! lymphoma @@ -45601,7 +45687,7 @@ xref: ONCOTREE:SCRMS {source="MONDO:equivalentTo"} xref: SCTID:128749008 {source="DOID:3260"} xref: SCTID:404055006 {source="MONDO:equivalentTo", source="DOID:3260"} xref: UMLS:C1266134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224766"} -is_a: MONDO:0005212 {source="DOID:3260/inferred", source="NCIT:C6519/inferred", source="ONCOTREE:SCRMS"} ! rhabdomyosarcoma +is_a: MONDO:0005212 {source="DOID:3260", source="DOID:3260/inferred", source="NCIT:C6519/inferred", source="ONCOTREE:SCRMS"} ! rhabdomyosarcoma intersection_of: MONDO:0005212 ! rhabdomyosarcoma intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell relationship: excluded_subClassOf MONDO:0009993 {source="DOID:3260", source="https://orcid.org/0000-0001-5208-3432"} ! embryonal rhabdomyosarcoma @@ -45713,6 +45799,7 @@ xref: SCTID:363434003 {source="DOID:3277", source="MONDO:equivalentTo"} xref: SCTID:94096009 {source="DOID:3277"} xref: UMLS:C0751552 {source="MEDGEN:155883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005197 {source="MONDO:Redundant", source="NCIT:C4962"} ! thymus neoplasm +is_a: MONDO:0021069 {source="DOID:3277"} ! malignant endocrine neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002370 ! thymus @@ -46238,7 +46325,7 @@ xref: MEDGEN:231448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6479 {source="MONDO:equivalentTo", source="DOID:3351"} xref: UMLS:C1332574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231448"} is_a: MONDO:0016982 {source="MONDO:Redundant", source="NCIT:C6479"} ! angiosarcoma -is_a: MONDO:0021054 {source="NCIT:C6479"} ! bone sarcoma +is_a: MONDO:0021054 {source="DOID:3351", source="NCIT:C6479"} ! bone sarcoma is_a: MONDO:0024499 {source="MONDO:Redundant", source="NCIT:C6479"} ! vascular bone neoplasm intersection_of: MONDO:0016982 ! angiosarcoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -46281,7 +46368,7 @@ xref: MEDGEN:404782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6604 {source="MONDO:equivalentTo"} xref: UMLS:C2733623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:404782"} is_a: MONDO:0005164 {source="MONDO:Redundant", source="NCIT:C6604"} ! fibrosarcoma -is_a: MONDO:0021054 {source="MONDO:Redundant", source="NCIT:C6604"} ! bone sarcoma +is_a: MONDO:0021054 {source="DOID:3354", source="MONDO:Redundant", source="NCIT:C6604"} ! bone sarcoma intersection_of: MONDO:0005164 ! fibrosarcoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3354", source="https://orcid.org/0000-0001-5208-3432"} ! osteosarcoma @@ -46371,6 +46458,7 @@ xref: DOID:3367 {source="MONDO:equivalentTo"} xref: MEDGEN:234043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7154 {source="DOID:3367", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332579 {source="MEDGEN:234043", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005058 {source="DOID:3367", source="NCIT:C7154"} ! leiomyosarcoma is_a: MONDO:0021054 {source="NCIT:C7154"} ! bone sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -46581,7 +46669,7 @@ xref: NCIT:C35870 {source="DOID:7602", source="MONDO:equivalentTo"} xref: SCTID:128770002 {source="DOID:7602"} xref: SCTID:128774006 {source="DOID:7602"} xref: UMLS:C1266166 {source="MEDGEN:220429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002629 {source="DOID:3378", source="NCIT:C35870/inferred"} ! bone osteosarcoma +is_a: MONDO:0002629 {source="DOID:3378", source="DOID:7602", source="NCIT:C35870/inferred"} ! bone osteosarcoma relationship: disease_arises_from_structure UBERON:0007195 ! stroma of bone marrow [Term] @@ -46765,6 +46853,7 @@ xref: NCIT:C5828 {source="MONDO:equivalentTo", source="DOID:3417", source="MONDO xref: SCTID:126975006 {source="MONDO:equivalentTo", source="DOID:3417"} xref: UMLS:C1263900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224734"} is_a: MONDO:0002633 {source="DOID:3417", source="MONDO:Redundant", source="NCIT:C5828"} ! cranial nerve neoplasm +is_a: MONDO:0002639 {source="NCIT:C5828"} ! glossopharyngeal nerve disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve @@ -46838,7 +46927,7 @@ xref: SCTID:126968005 {source="DOID:3419"} xref: SCTID:254971001 {source="DOID:3419"} xref: SCTID:395505000 {source="MONDO:equivalentTo", source="DOID:3419"} xref: UMLS:C0524802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101181"} -is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Redundant", source="NCIT:C4801"} ! optic nerve disorder +is_a: MONDO:0002135 {source="DOID:3419", source="MESH:D019574", source="MONDO:Redundant", source="NCIT:C4801"} ! optic nerve disorder is_a: MONDO:0002633 {source="DOID:3419", source="MESH:D019574", source="NCIT:C4801"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II @@ -47718,6 +47807,7 @@ xref: NCIT:C4533 {source="MONDO:equivalentTo"} xref: SCTID:254942002 {source="DOID:3540"} xref: UMLS:C0346289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138053"} is_a: MONDO:0001657 {source="DOID:3540/inferred", source="MONDO:Redundant", source="NCIT:C4533"} ! brain cancer +is_a: MONDO:0002682 {source="DOID:3540"} ! cerebral ventricle cancer is_a: MONDO:0016717 {source="NCIT:C4533"} ! choroid plexus neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001886 ! choroid plexus @@ -47835,6 +47925,7 @@ xref: NCIT:C42080 {source="DOID:3545"} xref: UMLS:C1510426 {source="MEDGEN:901899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002071 {source="DOID:3545/inferred", source="NCIT:C124292"} ! supratentorial cancer is_a: MONDO:0002681 {source="DOID:3545", source="MONDO:0002685/inferred", source="NCIT:C124292/inferred"} ! choroid plexus cancer +is_a: MONDO:0016718 {source="NCIT:C124292"} ! choroid plexus carcinoma is_a: MONDO:0024744 {source="MONDO:Redundant", source="NCIT:C124292"} ! childhood choroid plexus neoplasm intersection_of: MONDO:0016718 ! choroid plexus carcinoma intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -47952,6 +48043,7 @@ xref: SCTID:95214007 {source="DOID:3571"} xref: UMLS:C0345904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87520"} is_a: MONDO:0002516 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! digestive system cancer is_a: MONDO:0005154 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred"} ! liver disorder +is_a: MONDO:0021069 {source="DOID:3571"} ! malignant endocrine neoplasm is_a: MONDO:0024477 {source="NCIT:C34803"} ! liver and intrahepatic bile duct neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002107 ! liver @@ -48024,7 +48116,7 @@ xref: SCTID:128857001 {source="DOID:3577"} xref: SCTID:189738002 {source="DOID:3577"} xref: SCTID:89089007 {source="DOID:3577"} xref: UMLS:C0036769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11387"} -is_a: MONDO:0006055 {source="DOID:3577/inferred", source="NCIT:C39976"} ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="DOID:3577", source="DOID:3577/inferred", source="NCIT:C39976"} ! sex cord-stromal tumor [Term] id: MONDO:0002697 @@ -48411,6 +48503,7 @@ xref: SCTID:372062007 {source="DOID:3620"} xref: SCTID:93744007 {source="DOID:3620"} xref: UMLS:C0348374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87593"} is_a: MONDO:0005872 {source="DOID:3620", source="MESH:D016543", source="MONDO:Redundant", source="NCIT:C4627"} ! nervous system cancer +is_a: MONDO:0006130 {source="NCIT:C4627"} ! central nervous system neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -48474,6 +48567,7 @@ xref: DOID:3637 {source="MONDO:equivalentTo"} xref: MEDGEN:209512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9234 {source="MONDO:equivalentTo", source="DOID:3637"} xref: UMLS:C1134515 {source="MEDGEN:209512", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0021234 {source="NCIT:C9234"} ! spinal cord neoplasm intersection_of: MONDO:0021234 ! spinal cord neoplasm intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0003544 {source="DOID:3637", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer @@ -48520,6 +48614,7 @@ xref: UMLS:C1332895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002601 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441"} ! teratoma is_a: MONDO:0003000 {source="DOID:3640", source="MONDO:Redundant", source="NCIT:C5441/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0019500 {source="Orphanet:252018"} ! extragonadal teratoma +is_a: MONDO:0020574 {source="NCIT:C5441"} ! central nervous system nongerminomatous germ cell tumor intersection_of: MONDO:0002601 ! teratoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -48954,6 +49049,7 @@ xref: NCIT:C7471 {source="MONDO:equivalentTo", source="DOID:3692"} xref: Orphanet:424016 {source="MONDO:equivalentTo"} xref: SCTID:764845008 {source="MONDO:equivalentTo"} xref: UMLS:C1332259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233977"} +is_a: MONDO:0002652 {source="NCIT:C7471"} ! anus adenocarcinoma is_a: MONDO:0007108 {source="DOID:3692", source="MONDO:Redundant", source="NCIT:C7471", source="Orphanet:424016"} ! anal canal carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0000159 ! anal canal @@ -49109,7 +49205,7 @@ xref: DOID:3701 {source="MONDO:equivalentTo"} xref: MEDGEN:232048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36095 {source="MONDO:equivalentTo", source="DOID:3701", source="MONDO:exact-label-match"} xref: UMLS:C1332919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232048"} -is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C36095"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:3701", source="MONDO:Redundant", source="NCIT:C36095"} ! mucinous adenocarcinoma is_a: MONDO:0005153 {source="DOID:3701", source="NCIT:C36095"} ! cervical adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -49661,6 +49757,7 @@ xref: MESH:D008579 {source="DOID:3772"} xref: NCIT:C5273 {source="DOID:3772", source="MONDO:equivalentTo"} xref: UMLS:C1334271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232669"} is_a: MONDO:0002682 {source="DOID:3772", source="NCIT:C5273"} ! cerebral ventricle cancer +is_a: MONDO:0016642 {source="DOID:3772"} ! meningioma intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0004086 ! brain ventricle relationship: excluded_subClassOf MONDO:0003772 {source="DOID:3772", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral meningioma @@ -49725,7 +49822,7 @@ xref: SCTID:194664001 {source="DOID:379"} xref: SCTID:267751009 {source="DOID:379"} xref: SCTID:49130001 {source="DOID:379", source="MONDO:equivalentTo"} xref: UMLS:C0155388 {source="MEDGEN:57606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002409 {source="DOID:379"} ! auditory system disorder +is_a: MONDO:0002409 {source="DOID:379", source="ICD10CM:H60-H62"} ! auditory system disorder is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C26972"} ! disorder of ear intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -49770,6 +49867,7 @@ xref: DOID:3813 {source="MONDO:equivalentTo"} xref: MEDGEN:272474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7001 {source="MONDO:equivalentTo", source="DOID:3813", source="MONDO:exact-label-match"} xref: UMLS:C1333019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272474"} +is_a: MONDO:0000628 {source="DOID:3813"} ! central nervous system organ benign neoplasm is_a: MONDO:0002360 {source="DOID:3813", source="MONDO:Redundant", source="NCIT:C7001/inferred"} ! chondroma is_a: MONDO:0006423 {source="NCIT:C7001"} ! soft tissue chondroma intersection_of: MONDO:0002360 ! chondroma @@ -49792,7 +49890,7 @@ xref: DOID:3816 {source="MONDO:equivalentTo"} xref: MEDGEN:1696475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27335 {source="MONDO:equivalentTo", source="DOID:3816"} xref: UMLS:C5231192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1696475"} -is_a: MONDO:0002639 {source="DOID:3816", source="MONDO:Entailed", source="MONDO:Redundant"} ! glossopharyngeal nerve disorder +is_a: MONDO:0002639 {source="DOID:3816", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C27335"} ! glossopharyngeal nerve disorder is_a: MONDO:0002782 {source="DOID:3816", source="MONDO:Redundant", source="NCIT:C27335"} ! cranial nerve palsy intersection_of: MONDO:0002782 ! cranial nerve palsy intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve @@ -49872,6 +49970,7 @@ xref: MESH:D019292 {source="MONDO:equivalentTo", source="DOID:3842"} xref: NCIT:C4676 {source="MONDO:equivalentTo", source="DOID:3842", source="MONDO:exact-label-match"} xref: UMLS:C0376527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138208"} is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4676/inferred"} ! head and neck neoplasm +is_a: MONDO:0024653 {source="NCIT:C4676"} ! skull neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002517 ! basicranium @@ -50041,6 +50140,7 @@ xref: NANDO:2200090 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NCIT:C4011 {source="MONDO:equivalentTo", source="DOID:3864"} xref: NCIT:C9373 {source="DOID:3864"} xref: UMLS:C0278876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78898"} +is_a: MONDO:0003260 {source="NCIT:C4011"} ! adult cerebellar neoplasm is_a: MONDO:0007959 {source="DOID:3864", source="MONDO:Redundant", source="NCIT:C4011"} ! medulloblastoma intersection_of: MONDO:0007959 ! medulloblastoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -50762,7 +50862,7 @@ xref: MEDGEN:273232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40154 {source="DOID:4005", source="MONDO:equivalentTo"} xref: UMLS:C1516864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273232"} is_a: MONDO:0002447 {source="DOID:4005", source="NCIT:C40154"} ! endometrial carcinoma -is_a: MONDO:0006474 {source="NCIT:C40154"} ! transitional cell carcinoma +is_a: MONDO:0006474 {source="DOID:4005", source="NCIT:C40154"} ! transitional cell carcinoma [Term] id: MONDO:0002833 @@ -50831,6 +50931,7 @@ xref: UMLS:C0863015 {source="MEDGEN:167840", source="MONDO:equivalentTo", source is_a: MONDO:0004192 {source="DOID:4013", source="MONDO:0002836/inferred", source="MONDO:Redundant", source="NCIT:C6166/inferred", source="ONCOTREE:UCU"} ! urethra cancer is_a: MONDO:0006474 {source="DOID:4013", source="MONDO:0002836/inferred", source="MONDO:Entailed", source="NCIT:C6166/inferred"} ! transitional cell carcinoma is_a: MONDO:0021327 {source="MONDO:Redundant", source="NCIT:C6166"} ! carcinoma of urethra +is_a: MONDO:0040679 {source="NCIT:C6166"} ! urothelial carcinoma intersection_of: MONDO:0006474 ! transitional cell carcinoma intersection_of: disease_has_location UBERON:0000057 ! urethra @@ -50912,6 +51013,7 @@ xref: NCIT:C27340 {source="MONDO:equivalentTo", source="DOID:4033"} xref: SCTID:723096000 {source="MONDO:equivalentTo"} xref: UMLS:C0948039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:182680"} is_a: MONDO:0004966 {source="DOID:4033", source="MONDO:Redundant", source="NCIT:C27340"} ! gastritis +is_a: MONDO:0005113 {source="DOID:4033"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach @@ -50928,6 +51030,7 @@ xref: MEDGEN:181761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27342 {source="DOID:4034", source="MONDO:equivalentTo"} xref: SCTID:723097009 {source="MONDO:equivalentTo"} xref: UMLS:C0948638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181761"} +is_a: MONDO:0002041 {source="DOID:4034"} ! fungal infectious disease is_a: MONDO:0004966 {source="DOID:4034", source="MONDO:Redundant", source="NCIT:C27342"} ! gastritis intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi @@ -51112,6 +51215,7 @@ xref: UMLS:C1334678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005089 {source="DOID:4050", source="MONDO:Redundant", source="NCIT:C6606/inferred"} ! sarcoma is_a: MONDO:0005843 {source="DOID:4050", source="MONDO:Entailed", source="NCIT:C6606/inferred"} ! mediastinal cancer is_a: MONDO:0018078 {source="NCIT:C6606"} ! soft tissue sarcoma +is_a: MONDO:0037743 {source="NCIT:C6606"} ! mediastinal soft tissue cancer intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -51196,6 +51300,7 @@ xref: MEDGEN:234294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5839 {source="DOID:4057", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234294"} is_a: MONDO:0002857 {source="DOID:4057", source="MONDO:Redundant", source="NCIT:C5839"} ! gallbladder sarcoma +is_a: MONDO:0005212 {source="DOID:4057"} ! rhabdomyosarcoma intersection_of: MONDO:0005212 ! rhabdomyosarcoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -51860,6 +51965,7 @@ xref: MEDGEN:233567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"} xref: UMLS:C1334231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233567"} is_a: MONDO:0021118 {source="DOID:4119", source="MONDO:Redundant", source="NCIT:C5695"} ! intestinal neoplasm +is_a: MONDO:0024503 {source="NCIT:C5695"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0000160 ! intestine @@ -51963,7 +52069,7 @@ xref: MEDGEN:272773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008579 {source="DOID:4141"} xref: NCIT:C6778 {source="MONDO:equivalentTo", source="DOID:4141"} xref: UMLS:C1334261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272773"} -is_a: MONDO:0016642 {source="NCIT:C6778/inferred"} ! meningioma +is_a: MONDO:0016642 {source="DOID:4141", source="NCIT:C6778/inferred"} ! meningioma is_a: MONDO:0024611 {source="NCIT:C6778"} ! orbit neoplasm relationship: disease_has_location UBERON:0004088 ! orbital region relationship: excluded_subClassOf MONDO:0002889 {source="DOID:4141", source="https://orcid.org/0000-0001-5208-3432"} ! orbital cancer @@ -52009,6 +52115,7 @@ xref: SCTID:188270008 {source="DOID:4143"} xref: SCTID:363462005 {source="DOID:4143"} xref: SCTID:93932000 {source="DOID:4143"} xref: UMLS:C0153626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56314"} +is_a: MONDO:0024611 {source="NCIT:C3562"} ! orbit neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001697 ! orbit of skull relationship: disease_has_feature HP:0000520 ! Proptosis @@ -52476,7 +52583,7 @@ xref: SCTID:154548007 {source="DOID:4205"} xref: SCTID:363472008 {source="DOID:4205"} xref: SCTID:449420002 {source="DOID:4205"} xref: UMLS:C0007762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40187"} -is_a: MONDO:0002427 {source="MESH:D002528", source="MONDO:Redundant"} ! cerebellar disorder +is_a: MONDO:0002427 {source="DOID:4205", source="MESH:D002528", source="MONDO:Redundant"} ! cerebellar disorder is_a: MONDO:0021211 {source="MONDO:Redundant", source="NCIT:C2935/inferred"} ! brain neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002037 ! cerebellum @@ -52562,6 +52669,7 @@ xref: DOID:4207 {source="MONDO:equivalentTo"} xref: MEDGEN:232349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5802 {source="MONDO:equivalentTo", source="DOID:4207", source="MONDO:exact-label-match"} xref: UMLS:C1332973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232349"} +is_a: MONDO:0037736 {source="NCIT:C5802"} ! infratentorial neoplasm intersection_of: MONDO:0037736 ! infratentorial neoplasm intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0002912 {source="DOID:4207", source="https://orcid.org/0000-0001-5208-3432"} ! brainstem cancer @@ -52670,6 +52778,7 @@ xref: SCTID:42194009 {source="DOID:4217"} xref: UMLS:C0334495 {source="MEDGEN:90793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002370 {source="MONDO:Redundant", source="NCIT:C4270"} ! ovarian Brenner tumor is_a: MONDO:0008170 {source="DOID:4217/inferred", source="MONDO:Entailed", source="NCIT:C4270/inferred"} ! ovarian cancer +is_a: MONDO:0018364 {source="DOID:4217"} ! malignant epithelial tumor of ovary intersection_of: MONDO:0002370 ! ovarian Brenner tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -52689,7 +52798,7 @@ xref: NANDO:2200867 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NCIT:C84648 {source="MONDO:equivalentTo", source="DOID:422"} xref: UMLS:C0752282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156050"} is_a: MONDO:0005336 {source="DOID:422", source="NCIT:C84648"} ! myopathy -is_a: MONDO:0019952 {source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:422", source="https://orcid.org/0000-0002-0736-9199"} ! congenital myopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5656" xsd:anyURI [Term] @@ -52984,7 +53093,7 @@ xref: MEDGEN:233437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6386 {source="DOID:4278", source="MONDO:equivalentTo"} xref: UMLS:C1335934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233437"} is_a: MONDO:0002650 {source="DOID:4278", source="MONDO:Redundant", source="NCIT:C6386"} ! scrotal carcinoma -is_a: MONDO:0005341 {source="MONDO:Redundant", source="NCIT:C6386"} ! skin basal cell carcinoma +is_a: MONDO:0005341 {source="DOID:4278", source="MONDO:Redundant", source="NCIT:C6386"} ! skin basal cell carcinoma intersection_of: MONDO:0005341 ! skin basal cell carcinoma intersection_of: disease_has_location UBERON:0001300 ! scrotum @@ -53108,7 +53217,7 @@ xref: MEDGEN:234239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6082 {source="DOID:4287", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234239"} is_a: MONDO:0002944 {source="DOID:4287", source="MONDO:Redundant", source="NCIT:C6082"} ! external ear carcinoma -is_a: MONDO:0005341 {source="MONDO:Redundant", source="NCIT:C6082"} ! skin basal cell carcinoma +is_a: MONDO:0005341 {source="DOID:4287", source="MONDO:Redundant", source="NCIT:C6082"} ! skin basal cell carcinoma intersection_of: MONDO:0005341 ! skin basal cell carcinoma intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -53363,7 +53472,7 @@ xref: MESH:D011843 {source="MONDO:equivalentTo", source="DOID:4306"} xref: SCTID:394640000 {source="DOID:4306"} xref: SCTID:72274001 {source="MONDO:equivalentTo", source="DOID:4306"} xref: UMLS:C0700594 {source="MEDGEN:147133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003620 {source="DOID:4306/inferred", source="MESH:D011843"} ! peripheral nervous system disorder +is_a: MONDO:0003620 {source="DOID:4306", source="DOID:4306/inferred", source="MESH:D011843"} ! peripheral nervous system disorder relationship: excluded_subClassOf MONDO:0002960 {source="DOID:4306", source="https://orcid.org/0000-0001-5208-3432"} ! polyradiculopathy [Term] @@ -53690,7 +53799,7 @@ xref: SCTID:363354003 {source="MONDO:equivalentTo", source="DOID:4362"} xref: SCTID:93752005 {source="DOID:4362"} xref: UMLS:C4048328 {source="MEDGEN:890252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002256 {source="MONDO:Redundant", source="NCIT:C9311/inferred"} ! cervix disorder -is_a: MONDO:0002715 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cancer +is_a: MONDO:0002715 {source="DOID:4362", source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cancer is_a: MONDO:0021230 {source="MONDO:Redundant", source="NCIT:C9311"} ! uterine cervix neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -53756,7 +53865,7 @@ xref: MEDGEN:155946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D020274 {source="DOID:438", source="MONDO:equivalentTo"} xref: NCIT:C99383 {source="DOID:438", source="MONDO:equivalentTo"} xref: UMLS:C0751871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155946"} -is_a: MONDO:0005071 {source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383/inferred"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:438", source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383/inferred"} ! nervous system disorder is_a: MONDO:0007179 {source="DOID:438", source="MESH:D020274", source="MONDO:Redundant", source="NCIT:C99383"} ! autoimmune disease intersection_of: MONDO:0007179 ! autoimmune disease intersection_of: disease_has_location UBERON:0001016 ! nervous system @@ -54055,6 +54164,7 @@ xref: MEDGEN:232034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5268 {source="DOID:4435", source="MONDO:equivalentTo"} xref: UMLS:C1332865 {source="MEDGEN:232034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002785 {source="DOID:4435", source="MONDO:Redundant", source="NCIT:C5268"} ! skull base neoplasm +is_a: MONDO:0002998 {source="NCIT:C5268"} ! skull base meningioma is_a: MONDO:0016642 {source="DOID:4435", source="MONDO:Redundant", source="NCIT:C5268/inferred"} ! meningioma intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0003712 ! cavernous sinus @@ -54188,7 +54298,7 @@ xref: SCTID:36741007 {source="DOID:4440"} xref: SCTID:443675005 {source="MONDO:equivalentTo", source="DOID:4440"} xref: UMLS:C0036631 {source="MONDO:equivalentTo", source="MEDGEN:11371", source="MONDO:MEDGEN"} is_a: MONDO:0006290 {source="NCIT:C9309"} ! malignant germ cell tumor -is_a: MONDO:0020580 ! germinomatous germ cell tumor +is_a: MONDO:0020580 {source="NCIT:C9309"} ! germinomatous germ cell tumor [Term] id: MONDO:0003002 @@ -54271,6 +54381,7 @@ xref: MESH:D008269 {source="DOID:4449"} xref: NCIT:C35468 {source="MONDO:equivalentTo", source="DOID:4449"} xref: SCTID:37231002 {source="MONDO:equivalentTo", source="DOID:4449"} xref: UMLS:C0271051 {source="MEDGEN:75732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004037 {source="DOID:4449"} ! retinal edema is_a: MONDO:0004580 {source="MONDO:Redundant"} ! retinal degeneration intersection_of: MONDO:0004037 ! retinal edema intersection_of: disease_has_location UBERON:0000053 ! macula lutea @@ -54391,6 +54502,7 @@ xref: Orphanet:319287 {source="MONDO:equivalentTo"} xref: SCTID:254916002 {source="DOID:4463", source="MONDO:equivalentTo"} xref: UMLS:C0346249 {source="MEDGEN:87547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005004 {source="MONDO:0003010/inferred", source="MONDO:Redundant", source="NCIT:C4524"} ! clear cell adenocarcinoma +is_a: MONDO:0005005 {source="Orphanet:319287"} ! clear cell renal carcinoma is_a: MONDO:0005549 {source="MONDO:0003010/inferred", source="MONDO:Redundant", source="NCIT:C4524"} ! renal cell adenocarcinoma [Term] @@ -54495,6 +54607,7 @@ synonym: "peritoneal solitary fibrous tumor, malignant" EXACT [MONDO:patterns/ma synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490, NCIT:C6893] synonym: "pleural and peritoneal solitary fibrous tumour" EXACT OMO:0003005 [] xref: DOID:4490 {source="MONDO:equivalentTo"} +is_a: MONDO:0002087 {source="DOID:4490"} ! peritoneum cancer intersection_of: MONDO:0037737 ! peritoneal solitary fibrous tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -54670,6 +54783,7 @@ xref: MEDGEN:232222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5840 {source="MONDO:equivalentTo", source="DOID:4513", source="MONDO:exact-label-match"} xref: UMLS:C1333742 {source="MONDO:equivalentTo", source="MEDGEN:232222", source="MONDO:MEDGEN"} is_a: MONDO:0002857 {source="DOID:4513", source="MONDO:Redundant", source="NCIT:C5840"} ! gallbladder sarcoma +is_a: MONDO:0016982 {source="DOID:4513"} ! angiosarcoma intersection_of: MONDO:0016982 ! angiosarcoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -55090,7 +55204,7 @@ xref: NCIT:C2877 {source="DOID:4551", source="MONDO:equivalentTo"} xref: SCTID:126849006 {source="DOID:4551", source="MONDO:equivalentTo"} xref: UMLS:C0003463 {source="MONDO:equivalentTo", source="MEDGEN:360", source="MONDO:MEDGEN"} is_a: MONDO:0002165 {source="MESH:D001005", source="MONDO:Redundant"} ! rectal neoplasm -is_a: MONDO:0002519 {source="MESH:D001005", source="MONDO:Redundant", source="NCIT:C2877"} ! anus disorder +is_a: MONDO:0002519 {source="DOID:4551", source="MESH:D001005", source="MONDO:Redundant", source="NCIT:C2877"} ! anus disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001245 ! anus @@ -55116,6 +55230,7 @@ xref: UMLS:C1334364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005057 {source="MONDO:Redundant", source="NCIT:C6461"} ! large cell neuroendocrine carcinoma is_a: MONDO:0005232 {source="DOID:4553", source="MONDO:Entailed", source="NCIT:C6461/inferred"} ! large cell carcinoma is_a: MONDO:0006451 {source="DOID:4553", source="MONDO:0003047/inferred", source="MONDO:Entailed", source="NCIT:C6461"} ! thymic carcinoma +is_a: MONDO:0020516 {source="NCIT:C6461"} ! thymic neuroendocrine carcinoma intersection_of: MONDO:0005057 ! large cell neuroendocrine carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus @@ -55220,6 +55335,7 @@ xref: MEDGEN:98458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4719 {source="DOID:4584", source="MONDO:equivalentTo"} xref: SCTID:253082002 {source="DOID:4584"} xref: UMLS:C0431118 {source="MEDGEN:98458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002681 {source="DOID:4584"} ! choroid plexus cancer intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0001886 ! choroid plexus @@ -55917,6 +56033,8 @@ xref: MEDGEN:91072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4472 {source="DOID:4683", source="MONDO:equivalentTo"} xref: SCTID:254713002 {source="DOID:4683", source="MONDO:equivalentTo"} xref: UMLS:C0346019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91072"} +is_a: MONDO:0002656 {source="DOID:4683"} ! skin carcinoma +is_a: MONDO:0003036 {source="NCIT:C4472"} ! mucoepidermoid carcinoma intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -55952,6 +56070,7 @@ xref: DOID:4686 {source="MONDO:equivalentTo"} xref: MEDGEN:234232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5343 {source="DOID:4686", source="MONDO:equivalentTo"} xref: UMLS:C1333461 {source="MEDGEN:234232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003036 {source="NCIT:C5343"} ! mucoepidermoid carcinoma intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma intersection_of: disease_has_location UBERON:0001043 ! esophagus @@ -56311,6 +56430,7 @@ xref: Orphanet:100075 {source="MONDO:equivalentTo"} xref: SCTID:721194008 {source="MONDO:equivalentTo"} xref: UMLS:C1333783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232548"} is_a: MONDO:0021085 {source="MONDO:Redundant", source="NCIT:C5696"} ! gastric neoplasm +is_a: MONDO:0024503 {source="NCIT:C5696"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0000945 ! stomach relationship: excluded_subClassOf MONDO:0002891 {source="DOID:4715", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete gastrointestinal neuroendocrine benign tumor @@ -56454,6 +56574,7 @@ xref: DOID:4739 {source="MONDO:equivalentTo"} xref: MEDGEN:273631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39953 {source="MONDO:equivalentTo", source="DOID:4739"} xref: UMLS:C1515281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273631"} +is_a: MONDO:0024235 {source="NCIT:C39953"} ! Brenner tumor intersection_of: MONDO:0024235 ! Brenner tumor intersection_of: disease_has_location UBERON:0000473 ! testis @@ -56565,7 +56686,7 @@ xref: MEDGEN:163584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6356 {source="DOID:4756", source="MONDO:equivalentTo", source="NCIT:C6356"} xref: SCTID:67871000119105 {source="DOID:4756", source="MONDO:equivalentTo"} xref: UMLS:C0863027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163584"} -is_a: MONDO:0003125 {source="DOID:4756/inferred", source="MONDO:Redundant", source="NCIT:C6356"} ! testicular sex cord-stromal neoplasm +is_a: MONDO:0003125 {source="DOID:4756", source="DOID:4756/inferred", source="MONDO:Redundant", source="NCIT:C6356"} ! testicular sex cord-stromal neoplasm is_a: MONDO:0006266 {source="DOID:4756", source="MONDO:Redundant", source="NCIT:C6356"} ! Leydig cell tumor intersection_of: MONDO:0006266 ! Leydig cell tumor intersection_of: disease_has_location UBERON:0000473 ! testis @@ -57051,6 +57172,7 @@ xref: MEDGEN:124526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9091 {source="MONDO:equivalentTo", source="DOID:4813"} xref: UMLS:C0278873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124526"} is_a: MONDO:0002911 {source="DOID:4813", source="MONDO:Redundant", source="NCIT:C9091"} ! brain stem glioma +is_a: MONDO:0024797 {source="NCIT:C9091"} ! adult brain stem neoplasm intersection_of: MONDO:0002911 ! brain stem glioma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -57067,6 +57189,7 @@ xref: NCIT:C27507 {source="MONDO:equivalentTo", source="DOID:482", source="MONDO xref: UMLS:C1333956 {source="MEDGEN:232595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001406 {source="MONDO:Redundant", source="NCIT:C27507"} ! peripheral nervous system neoplasm is_a: MONDO:0006500 {source="DOID:482", source="MONDO:Redundant", source="NCIT:C27507"} ! hemangioma +is_a: MONDO:0056804 {source="DOID:482"} ! benign neoplasm of peripheral nervous system intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0001021 ! nerve @@ -57234,6 +57357,7 @@ xref: MEDGEN:220390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5479 {source="MONDO:equivalentTo", source="DOID:4847"} xref: SCTID:126963001 {source="MONDO:equivalentTo", source="DOID:4847"} xref: UMLS:C1263892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:220390"} +is_a: MONDO:0003103 {source="NCIT:C5479"} ! nerve root neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0012337 ! cauda equina relationship: excluded_subClassOf MONDO:0003544 {source="DOID:4847", source="https://orcid.org/0000-0001-5208-3432"} ! spinal cord cancer @@ -57256,7 +57380,7 @@ xref: DOID:4848 {source="MONDO:equivalentTo"} xref: MEDGEN:196631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9475 {source="MONDO:equivalentTo", source="DOID:4848"} xref: UMLS:C0740480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196631"} -is_a: MONDO:0002913 {source="DOID:4848", source="MONDO:Redundant"} ! cerebellar neoplasm +is_a: MONDO:0002913 {source="DOID:4848", source="MONDO:Redundant", source="NCIT:C9475"} ! cerebellar neoplasm is_a: MONDO:0019781 {source="DOID:4848", source="MONDO:Redundant", source="NCIT:C9475/inferred"} ! astrocytoma (excluding glioblastoma) is_a: MONDO:0021631 {source="MONDO:Redundant", source="NCIT:C9475"} ! brain astrocytoma intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) @@ -57367,7 +57491,7 @@ xref: MEDGEN:224917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27505 {source="MONDO:equivalentTo", source="DOID:486"} xref: SCTID:403976007 {source="MONDO:equivalentTo", source="DOID:486"} xref: UMLS:C1304511 {source="MEDGEN:224917", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006500 {source="DOID:486"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:486", source="NCIT:C27505"} ! hemangioma [Term] id: MONDO:0003173 @@ -58548,6 +58672,7 @@ xref: NCIT:C7533 {source="DOID:4991", source="MONDO:directSiblingOf"} xref: UMLS:C1335114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235405"} is_a: MONDO:0003235 {source="DOID:4991", source="MONDO:Redundant", source="NCIT:C6769"} ! optic nerve glioma is_a: MONDO:0019781 {source="NCIT:C6769/inferred", source="NCIT:C7533"} ! astrocytoma (excluding glioblastoma) +is_a: MONDO:0024649 {source="NCIT:C6769"} ! optic tract astrocytoma intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II @@ -58684,6 +58809,7 @@ xref: DOID:501 {source="MONDO:equivalentTo"} xref: MEDGEN:272703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7004 {source="DOID:501", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1333957 {source="MEDGEN:272703", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000628 {source="DOID:501"} ! central nervous system organ benign neoplasm is_a: MONDO:0006500 {source="DOID:501", source="MONDO:Redundant", source="NCIT:C7004"} ! hemangioma intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -58875,6 +59001,7 @@ xref: SCTID:47598005 {source="DOID:5032"} xref: SCTID:93962006 {source="DOID:5032"} xref: UMLS:C0153655 {source="MEDGEN:102284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002071 {source="MONDO:Redundant", source="NCIT:C3573"} ! supratentorial cancer +is_a: MONDO:0021069 {source="DOID:5032"} ! malignant endocrine neoplasm is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C3573"} ! pineal body neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001905 ! pineal body @@ -58964,6 +59091,7 @@ xref: SCTID:13238004 {source="DOID:5042"} xref: SCTID:404041003 {source="MONDO:equivalentTo", source="DOID:5042"} xref: UMLS:C0334618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87276"} is_a: MONDO:0006235 {source="MONDO:Redundant", source="NCIT:C4336"} ! granular cell tumor +is_a: MONDO:0021089 {source="NCIT:C4336"} ! peripheral nervous system cancer intersection_of: MONDO:0006235 ! granular cell tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -59314,7 +59442,7 @@ xref: NCIT:C6770 {source="MONDO:equivalentTo"} xref: ONCOTREE:EPMT {source="MONDO:equivalentTo"} xref: Orphanet:301 {source="MONDO:equivalentTo"} xref: UMLS:C1333407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232459"} -is_a: MONDO:0021042 {source="NCIT:C6770"} ! glioma +is_a: MONDO:0021042 {source="NCIT:C6770", source="Orphanet:301"} ! glioma intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_arises_from_structure UBERON:0004670 ! ependyma @@ -59451,7 +59579,7 @@ xref: SCTID:188361007 {source="MONDO:equivalentTo", source="DOID:5093"} xref: SCTID:188365003 {source="DOID:5093"} xref: SCTID:255058005 {source="DOID:5093"} xref: UMLS:C0153661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56320"} -is_a: MONDO:0004992 {source="DOID:5093", source="DOID:5093/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:5093", source="DOID:5093/inferred", source="MONDO:Redundant", source="NCIT:C3576"} ! cancer is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3576"} ! neoplasm of thorax intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk @@ -59483,7 +59611,7 @@ xref: SCTID:127006003 {source="DOID:5099"} xref: SCTID:363359008 {source="MONDO:equivalentTo"} xref: UMLS:C0496788 {source="MEDGEN:99218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003276 {source="DOID:5099", source="MONDO:Redundant", source="NCIT:C4765/inferred"} ! middle ear disorder -is_a: MONDO:0003277 {source="MONDO:Redundant", source="NCIT:C4765"} ! malignant ear neoplasm +is_a: MONDO:0003277 {source="DOID:5099", source="MONDO:Redundant", source="NCIT:C4765"} ! malignant ear neoplasm is_a: MONDO:0021366 {source="MONDO:Redundant", source="NCIT:C4765"} ! neoplasm of middle ear intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001756 ! middle ear @@ -59509,7 +59637,7 @@ xref: SCTID:232250008 {source="DOID:5100"} xref: SCTID:300195001 {source="DOID:5100"} xref: SCTID:68996008 {source="MONDO:equivalentTo", source="DOID:5100"} xref: UMLS:C0271428 {source="MEDGEN:124401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002409 {source="DOID:5100"} ! auditory system disorder +is_a: MONDO:0002409 {source="DOID:5100", source="ICD10CM:H65-H75"} ! auditory system disorder is_a: MONDO:0021205 {source="MONDO:Redundant", source="NCIT:C27065"} ! disorder of ear intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001756 ! middle ear @@ -59559,6 +59687,7 @@ synonym: "malignant neoplasm of internal ear" EXACT [MONDO:patterns/cancer] xref: DOID:5102 {source="MONDO:equivalentTo"} xref: NCIT:C39784 {source="DOID:5102", source="MONDO:directSiblingOf"} is_a: MONDO:0002467 {source="DOID:5102", source="MONDO:Redundant", source="MONDO:indirect"} ! inner ear disorder +is_a: MONDO:0003277 {source="DOID:5102"} ! malignant ear neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001846 ! internal ear @@ -59889,7 +60018,7 @@ is_a: MONDO:0000385 {source="DOID:5140", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0001572 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747"} ! leiomyoma is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! hepatobiliary neoplasm is_a: MONDO:0005281 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! gallbladder disorder -is_a: MONDO:0021503 {source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! benign neoplasm of gallbladder +is_a: MONDO:0021503 {source="DOID:5140", source="MONDO:Redundant", source="NCIT:C5747/inferred"} ! benign neoplasm of gallbladder intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -59904,7 +60033,7 @@ xref: DOID:5142 {source="MONDO:equivalentTo"} xref: MEDGEN:274417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40326 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5142"} xref: UMLS:C1520087 {source="MEDGEN:274417", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000643 {source="DOID:5142", source="MONDO:Redundant"} ! vulvar benign neoplasm +is_a: MONDO:0000643 {source="DOID:5142", source="MONDO:Redundant", source="NCIT:C40326"} ! vulvar benign neoplasm is_a: MONDO:0001572 {source="MONDO:Redundant", source="NCIT:C40326"} ! leiomyoma intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -60838,7 +60967,7 @@ xref: NCIT:C6999 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", xref: UMLS:C1334385 {source="MEDGEN:235254", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002217 {source="MONDO:Redundant", source="NCIT:C6999"} ! central nervous system sarcoma is_a: MONDO:0003244 {source="DOID:5254", source="NCIT:C6999/inferred"} ! central nervous system mesenchymal non-meningothelial tumor -is_a: MONDO:0005058 {source="DOID:5254", source="MONDO:Redundant", source="NCIT:C6999/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5254", source="MONDO:Redundant", source="NCIT:C6999", source="NCIT:C6999/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -60911,7 +61040,7 @@ xref: MEDGEN:234095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5364 {source="MONDO:equivalentTo", source="DOID:5261"} xref: UMLS:C1332848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234095"} is_a: MONDO:0003354 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364"} ! heart sarcoma -is_a: MONDO:0005058 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5261", source="MONDO:Redundant", source="NCIT:C5364", source="NCIT:C5364/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0000948 ! heart @@ -60954,7 +61083,7 @@ xref: MEDGEN:233275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5234 {source="MONDO:equivalentTo", source="EFO:0006718", source="DOID:5263"} xref: UMLS:C1335163 {source="MEDGEN:233275", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002225 {source="DOID:5263", source="MONDO:Redundant", source="NCIT:C5234"} ! ovarian sarcoma -is_a: MONDO:0005058 {source="DOID:5263", source="EFO:0006718", source="MONDO:Redundant", source="NCIT:C5234/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5263", source="EFO:0006718", source="MONDO:Redundant", source="NCIT:C5234", source="NCIT:C5234/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -60989,7 +61118,7 @@ xref: MEDGEN:232711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5667 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5265"} xref: UMLS:C1334448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232711"} is_a: MONDO:0002426 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667"} ! lung sarcoma -is_a: MONDO:0005058 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5265", source="MONDO:Redundant", source="NCIT:C5667", source="NCIT:C5667/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -61158,6 +61287,7 @@ xref: MEDGEN:234291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5275"} xref: UMLS:C1333746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234291"} is_a: MONDO:0002857 {source="DOID:5275", source="MONDO:Redundant", source="NCIT:C5841"} ! gallbladder sarcoma +is_a: MONDO:0005058 {source="DOID:5275"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -61237,7 +61367,7 @@ xref: MEDGEN:233876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5526 {source="MONDO:equivalentTo", source="DOID:5282", source="MONDO:exact-label-match"} xref: UMLS:C1335511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233876"} is_a: MONDO:0002854 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526"} ! prostate sarcoma -is_a: MONDO:0005058 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5282", source="MONDO:Redundant", source="NCIT:C5526", source="NCIT:C5526/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -61256,7 +61386,7 @@ xref: MEDGEN:277860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6326 {source="MONDO:equivalentTo", source="DOID:5283"} xref: UMLS:C1336940 {source="MEDGEN:277860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002140 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326"} ! vagina sarcoma -is_a: MONDO:0005058 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5283", source="MONDO:Redundant", source="NCIT:C6326", source="NCIT:C6326/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -61292,7 +61422,7 @@ xref: MEDGEN:234050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5186 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5285"} xref: UMLS:C1332631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234050"} is_a: MONDO:0002490 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186"} ! breast sarcoma -is_a: MONDO:0005058 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5285", source="MONDO:Redundant", source="NCIT:C5186", source="NCIT:C5186/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0000310 ! breast @@ -61310,7 +61440,7 @@ xref: EFO:1001975 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:378348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40318 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5286"} xref: UMLS:C2168304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:378348"} -is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C40318/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C40318", source="NCIT:C40318/inferred"} ! leiomyosarcoma is_a: MONDO:0005214 {source="DOID:5286", source="EFO:1001975", source="MONDO:Redundant", source="NCIT:C40318"} ! vulva sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -61330,7 +61460,7 @@ xref: MEDGEN:235545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6183 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5287"} xref: UMLS:C1335743 {source="MEDGEN:235545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002930 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183"} ! kidney sarcoma -is_a: MONDO:0005058 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5287", source="MONDO:Redundant", source="NCIT:C6183", source="NCIT:C6183/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002113 ! kidney @@ -61375,7 +61505,7 @@ xref: MEDGEN:235310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6619 {source="MONDO:equivalentTo", source="DOID:5292"} xref: UMLS:C1334660 {source="MEDGEN:235310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002852 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619"} ! mediastinum sarcoma -is_a: MONDO:0005058 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5292", source="MONDO:Redundant", source="NCIT:C6619", source="NCIT:C6619/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -61397,6 +61527,7 @@ xref: NCIT:C5848 {source="MONDO:equivalentTo", source="DOID:5293", source="MONDO xref: UMLS:C1333508 {source="MEDGEN:232481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002862 {source="DOID:5293", source="MONDO:Entailed", source="MONDO:indirect"} ! bile duct sarcoma is_a: MONDO:0003090 {source="DOID:5293", source="MONDO:Redundant"} ! extrahepatic bile duct carcinoma +is_a: MONDO:0024658 {source="NCIT:C5848"} ! extrahepatic bile duct sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct @@ -61631,10 +61762,11 @@ xref: NCIT:C4153 {source="DOID:5310"} xref: SCTID:189656007 {source="DOID:5310"} xref: SCTID:74280008 {source="DOID:5310"} xref: UMLS:C2012261 {source="MEDGEN:1785052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004953 {source="NCIT:C40368"} ! invasive ductal breast carcinoma is_a: MONDO:0005004 {source="NCIT:C40368"} ! clear cell adenocarcinoma is_a: MONDO:0005590 {source="NCIT:C40368"} ! breast ductal adenocarcinoma is_a: MONDO:0006256 {source="NCIT:C40368"} ! invasive breast carcinoma -is_a: MONDO:0045055 {source="MONDO:Redundant", source="NCIT:C40368"} ! glycogen-rich carcinoma +is_a: MONDO:0045055 {source="DOID:5310", source="MONDO:Redundant", source="NCIT:C40368"} ! glycogen-rich carcinoma intersection_of: MONDO:0045055 ! glycogen-rich carcinoma intersection_of: disease_has_location UBERON:0000310 ! breast property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3710" xsd:anyURI @@ -61902,6 +62034,7 @@ xref: NCIT:C7011 {source="DOID:5343"} xref: UMLS:C1377613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234604"} is_a: MONDO:0003000 {source="DOID:5343", source="MONDO:Entailed", source="NCIT:C6209/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0003400 {source="NCIT:C6209"} ! childhood endodermal sinus tumor +is_a: MONDO:0003750 {source="NCIT:C6209"} ! childhood central nervous system germ cell tumor is_a: MONDO:0005744 {source="DOID:5343", source="MONDO:Entailed", source="NCIT:C6209/inferred"} ! yolk sac tumor is_a: MONDO:0016739 {source="NCIT:C6209"} ! yolk sac tumor of central nervous system intersection_of: MONDO:0005744 ! yolk sac tumor @@ -62006,6 +62139,7 @@ xref: MEDGEN:231046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27241 {source="DOID:5348", source="MONDO:equivalentTo"} xref: UMLS:C1332221 {source="MEDGEN:231046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005744 {source="DOID:5348", source="MONDO:Redundant", source="NCIT:C27241"} ! yolk sac tumor +is_a: MONDO:0044878 {source="NCIT:C27241"} ! adult germ cell tumor intersection_of: MONDO:0005744 ! yolk sac tumor intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -62308,6 +62442,7 @@ xref: UMLS:C1511048 {source="MEDGEN:267025", source="MONDO:equivalentTo", source is_a: MONDO:0002193 {source="DOID:5382"} ! Bartholin gland benign neoplasm is_a: MONDO:0002198 {source="NCIT:C40299"} ! vulvar glandular neoplasm is_a: MONDO:0004972 {source="DOID:5382", source="MONDO:Redundant", source="NCIT:C40299"} ! adenoma +is_a: MONDO:0036976 {source="NCIT:C40299"} ! benign epithelial neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland @@ -62360,6 +62495,7 @@ xref: SCTID:254642004 {source="MONDO:equivalentTo", source="DOID:5386"} xref: UMLS:C0345964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83394"} is_a: MONDO:0002732 {source="DOID:5386", source="NCIT:C4455"} ! lung benign neoplasm is_a: MONDO:0004972 {source="DOID:5386", source="MONDO:Redundant", source="NCIT:C4455"} ! adenoma +is_a: MONDO:0036976 {source="NCIT:C4455"} ! benign epithelial neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -62465,6 +62601,7 @@ xref: SCTID:189617001 {source="DOID:5391"} xref: SCTID:24482001 {source="DOID:5391"} xref: UMLS:C0149845 {source="MEDGEN:56206", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002533 {source="MONDO:Redundant", source="NCIT:C3494"} ! papillary adenoma +is_a: MONDO:0002807 {source="DOID:5391"} ! bronchial neoplasm is_a: MONDO:0003422 {source="DOID:5391", source="NCIT:C3494"} ! lung adenoma intersection_of: MONDO:0002533 ! papillary adenoma intersection_of: disease_has_location UBERON:0002185 ! bronchus @@ -62643,7 +62780,7 @@ xref: MEDGEN:274377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40256 {source="DOID:5402", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1519913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:274377"} is_a: MONDO:0001704 {source="NCIT:C40256"} ! vaginal glandular neoplasm -is_a: MONDO:0004972 {source="MONDO:Redundant", source="NCIT:C40256"} ! adenoma +is_a: MONDO:0004972 {source="DOID:5402", source="MONDO:Redundant", source="NCIT:C40256"} ! adenoma intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -62812,6 +62949,7 @@ xref: NCIT:C6192 {source="DOID:5433"} xref: UMLS:C1335329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233837"} is_a: MONDO:0021066 {source="MONDO:0003443/inferred", source="MONDO:Redundant", source="NCIT:C27883/inferred"} ! urinary system neoplasm is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C27883"} ! papillary epithelial neoplasm +is_a: MONDO:0024337 {source="NCIT:C27883"} ! urothelial neoplasm intersection_of: MONDO:0021096 ! papillary epithelial neoplasm intersection_of: disease_has_location UBERON:0000365 ! urothelium relationship: disease_arises_from_structure CL:0000731 ! urothelial cell @@ -62950,6 +63088,7 @@ xref: DOID:5463 {source="MONDO:equivalentTo"} xref: MEDGEN:1023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D015834 {source="MONDO:equivalentTo", source="DOID:5463"} xref: UMLS:C0009197 {source="MEDGEN:1023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002467 {source="DOID:5463"} ! inner ear disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001844 ! cochlea @@ -63271,7 +63410,7 @@ xref: SCTID:253067007 {source="DOID:5500"} xref: SCTID:253068002 {source="DOID:5500"} xref: SCTID:57706008 {source="DOID:5500"} xref: UMLS:C1384403 {source="MONDO:equivalentTo", source="MEDGEN:235137", source="MONDO:MEDGEN"} -is_a: MONDO:0016698 {source="NCIT:C4713"} ! ependymoma +is_a: MONDO:0016698 {source="DOID:5500", source="NCIT:C4713"} ! ependymoma [Term] id: MONDO:0003471 @@ -63372,7 +63511,7 @@ xref: NCIT:C6903 {source="DOID:5504", source="MONDO:equivalentTo", source="MONDO xref: SCTID:397378002 {source="DOID:5504"} xref: SCTID:57706008 {source="DOID:5504"} xref: UMLS:C1370500 {source="MEDGEN:237159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016698 {source="NCIT:C6903"} ! ependymoma +is_a: MONDO:0016698 {source="DOID:5504", source="NCIT:C6903"} ! ependymoma [Term] id: MONDO:0003475 @@ -63389,7 +63528,7 @@ xref: NCIT:C4319 {source="MONDO:equivalentTo", source="DOID:5505", source="MONDO xref: SCTID:112686007 {source="DOID:5505"} xref: SCTID:128839002 {source="DOID:5505"} xref: UMLS:C0334578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90810"} -is_a: MONDO:0016698 {source="NCIT:C4319"} ! ependymoma +is_a: MONDO:0016698 {source="DOID:5505", source="NCIT:C4319"} ! ependymoma [Term] id: MONDO:0003476 @@ -63401,7 +63540,7 @@ synonym: "clear cell ependymoma" EXACT [NCIT:C4714] xref: DOID:5507 {source="MONDO:equivalentTo"} xref: NCIT:C4714 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:CCE {source="MONDO:equivalentTo"} -is_a: MONDO:0016698 {source="MONDO:Redundant", source="NCIT:C4714"} ! ependymoma +is_a: MONDO:0016698 {source="DOID:5507", source="MONDO:Redundant", source="NCIT:C4714"} ! ependymoma relationship: excluded_subClassOf MONDO:0003161 {source="DOID:5507", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete benign ependymoma [Term] @@ -63477,6 +63616,7 @@ xref: DOID:5510 {source="MONDO:equivalentTo"} xref: MEDGEN:233328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7169 {source="DOID:5510", source="MONDO:equivalentTo"} xref: UMLS:C1335415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233328"} +is_a: MONDO:0002073 {source="DOID:5510"} ! malignant pineal area germ cell neoplasm intersection_of: MONDO:0003002 ! dysgerminoma intersection_of: disease_has_location UBERON:0001905 ! pineal body @@ -63592,7 +63732,7 @@ xref: SCTID:15176003 {source="DOID:5524"} xref: SCTID:403901001 {source="DOID:5524", source="MONDO:equivalentTo"} xref: SCTID:85956000 {source="DOID:5524"} xref: UMLS:C5400033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1731648"} -is_a: MONDO:0005096 {source="DOID:5524/inferred", source="MONDO:Redundant", source="NCIT:C4106"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:5524", source="DOID:5524/inferred", source="MONDO:Redundant", source="NCIT:C4106"} ! squamous cell carcinoma relationship: excluded_subClassOf MONDO:0000535 {source="DOID:5524", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tonsil squamous cell carcinoma [Term] @@ -63689,7 +63829,7 @@ xref: EFO:1000432 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:384474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40093 {source="DOID:5531", source="EFO:1000432", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C2019443 {source="MEDGEN:384474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005096 {source="EFO:1000432", source="MONDO:Redundant", source="NCIT:C40093"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:5531", source="EFO:1000432", source="MONDO:Redundant", source="NCIT:C40093"} ! squamous cell carcinoma is_a: MONDO:0005140 {source="DOID:5531", source="EFO:1000432", source="MONDO:Entailed", source="NCIT:C40093"} ! ovarian carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -64109,7 +64249,8 @@ xref: NCIT:C8884 {source="DOID:5563", source="MONDO:relatedTo"} xref: SCTID:189847002 {source="DOID:5563"} xref: SCTID:19467007 {source="DOID:5563"} xref: UMLS:C4722083 {source="MEDGEN:1652407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002601 {source="DOID:5563", source="MONDO:Entailed", source="MONDO:Redundant"} ! teratoma +is_a: MONDO:0002601 {source="DOID:5563", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C4287"} ! teratoma +is_a: MONDO:0006290 {source="NCIT:C4287"} ! malignant germ cell tumor intersection_of: MONDO:0002601 ! teratoma intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -64145,6 +64286,7 @@ xref: NCIT:C9013 {source="DOID:5565", source="MONDO:equivalentTo"} xref: SCTID:42717009 {source="DOID:5565"} xref: UMLS:C1368898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277966"} is_a: MONDO:0002601 {source="DOID:5565", source="MONDO:Redundant", source="NCIT:C9013"} ! teratoma +is_a: MONDO:0044878 {source="NCIT:C9013"} ! adult germ cell tumor intersection_of: MONDO:0002601 ! teratoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -64179,6 +64321,7 @@ xref: DOID:5568 {source="MONDO:equivalentTo"} xref: MEDGEN:233175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6438 {source="DOID:5568", source="MONDO:equivalentTo"} xref: UMLS:C1334682 {source="MEDGEN:233175", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0021067 {source="NCIT:C6438"} ! mediastinal germ cell tumor intersection_of: MONDO:0002601 ! teratoma intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -64229,6 +64372,7 @@ xref: SCTID:191795002 {source="DOID:5576"} xref: SCTID:81903006 {source="DOID:5576", source="MONDO:equivalentTo"} xref: UMLS:C0033949 {source="MEDGEN:19560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000595 {source="NCIT:C34959"} ! sexual and gender identity disorders +is_a: MONDO:0040674 {source="ICD10CM:F52.32"} ! orgasm disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_disrupts MF:0000061 ! orgasm intersection_of: disease_has_location UBERON:0003101 ! male organism @@ -64922,7 +65066,7 @@ xref: MEDGEN:138057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4538 {source="DOID:5632", source="MONDO:equivalentTo"} xref: SCTID:254978007 {source="DOID:5632", source="MONDO:equivalentTo"} xref: UMLS:C0346328 {source="MEDGEN:138057", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002640 {source="DOID:5632", source="MONDO:Entailed", source="MONDO:Redundant"} ! optic nerve neoplasm +is_a: MONDO:0002640 {source="DOID:5632", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C4538"} ! optic nerve neoplasm is_a: MONDO:0016642 {source="NCIT:C4538/inferred"} ! meningioma relationship: disease_has_location UBERON:0000941 ! cranial nerve II @@ -64977,7 +65121,7 @@ xref: NCIT:C8380 {source="MONDO:equivalentTo", source="DOID:5638"} xref: SCTID:48460009 {source="DOID:5638"} xref: UMLS:C0334554 {source="MEDGEN:90807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002142 {source="DOID:5638", source="NCIT:C8380"} ! undifferentiated pleomorphic sarcoma -is_a: MONDO:0002402 {source="NCIT:C8380"} ! malignant giant cell tumor +is_a: MONDO:0002402 {source="DOID:5638", source="NCIT:C8380"} ! malignant giant cell tumor [Term] id: MONDO:0003562 @@ -65182,7 +65326,7 @@ xref: NCIT:C4094 {source="DOID:5662", source="MONDO:equivalentTo", source="MONDO xref: SCTID:16741004 {source="DOID:5662"} xref: UMLS:C0334233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87198"} is_a: MONDO:0004993 {source="DOID:5662", source="MONDO:Redundant", source="NCIT:C4094/inferred"} ! carcinoma -is_a: MONDO:0006406 {source="NCIT:C4094"} ! sarcomatoid carcinoma +is_a: MONDO:0006406 {source="DOID:5662", source="NCIT:C4094"} ! sarcomatoid carcinoma [Term] id: MONDO:0003574 @@ -65208,7 +65352,7 @@ xref: NCIT:C4653 {source="DOID:5665", source="MONDO:equivalentTo"} xref: SCTID:277156006 {source="DOID:5665", source="MONDO:equivalentTo"} xref: UMLS:C0349576 {source="MEDGEN:91157", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002776 {source="DOID:5665", source="MONDO:Redundant", source="NCIT:C4653/inferred"} ! external ear disorder -is_a: MONDO:0003277 {source="MONDO:Redundant", source="NCIT:C4653"} ! malignant ear neoplasm +is_a: MONDO:0003277 {source="DOID:5665", source="MONDO:Redundant", source="NCIT:C4653"} ! malignant ear neoplasm is_a: MONDO:0021235 {source="MONDO:Redundant", source="NCIT:C4653"} ! external ear neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -66415,6 +66559,7 @@ xref: MEDGEN:276996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40309 {source="DOID:5761", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1520094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276996"} is_a: MONDO:0005215 {source="DOID:5761", source="NCIT:C40309/inferred"} ! vulvar carcinoma +is_a: MONDO:0024336 {source="NCIT:C40309"} ! vulvar adenocarcinoma intersection_of: MONDO:0006962 ! sebaceous adenocarcinoma intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -66782,7 +66927,7 @@ xref: SCTID:236496000 {source="MONDO:equivalentTo"} xref: SCTID:267441009 {source="DOID:580"} xref: UMLS:C0341712 {source="MEDGEN:574593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005240 {source="DOID:580", source="MONDO:Redundant", source="NCIT:C123037/inferred"} ! kidney disorder -is_a: MONDO:0008171 {source="NCIT:C123037"} ! nephrolithiasis +is_a: MONDO:0008171 {source="DOID:580", source="NCIT:C123037"} ! nephrolithiasis relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -67330,6 +67475,7 @@ xref: DOID:5874 {source="MONDO:equivalentTo"} xref: MEDGEN:233406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6447 {source="DOID:5874", source="MONDO:equivalentTo"} xref: UMLS:C1335776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233406"} +is_a: MONDO:0024645 {source="NCIT:C6447"} ! retroperitoneal neoplasm intersection_of: MONDO:0005040 ! germ cell tumor intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space relationship: excluded_subClassOf MONDO:0005941 {source="DOID:5874", source="https://orcid.org/0000-0001-5208-3432"} ! retroperitoneal cancer @@ -67471,7 +67617,7 @@ xref: MEDGEN:83709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8269 {source="MONDO:equivalentTo", source="DOID:5890"} xref: UMLS:C0280787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83709"} is_a: MONDO:0003266 {source="DOID:5890", source="NCIT:C8269/inferred"} ! ependymal tumor -is_a: MONDO:0016700 {source="MONDO:Redundant", source="NCIT:C8269"} ! anaplastic ependymoma +is_a: MONDO:0016700 {source="DOID:5890", source="MONDO:Redundant", source="NCIT:C8269"} ! anaplastic ependymoma intersection_of: MONDO:0016700 ! anaplastic ependymoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -67599,6 +67745,7 @@ xref: MEDGEN:234477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6982 {source="MONDO:equivalentTo", source="DOID:5908"} xref: ONCOTREE:VPSCC {source="MONDO:equivalentTo"} xref: UMLS:C1336955 {source="MONDO:equivalentTo", source="MEDGEN:234477", source="MONDO:MEDGEN"} +is_a: MONDO:0004433 {source="NCIT:C6982"} ! papillary carcinoma of the penis is_a: MONDO:0006006 {source="DOID:5908", source="MONDO:Redundant", source="NCIT:C6982"} ! verrucous carcinoma is_a: MONDO:0018352 {source="DOID:5908", source="MONDO:Redundant", source="NCIT:C6982/inferred", source="NCIT:textdef", source="ONCOTREE:VPSCC"} ! squamous cell carcinoma of penis intersection_of: MONDO:0006006 ! verrucous carcinoma @@ -67727,6 +67874,7 @@ xref: NCIT:C40170 {source="MONDO:equivalentTo", source="MONDO:exact-label-match" xref: UMLS:C1519855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:275556"} is_a: MONDO:0000632 {source="DOID:5916", source="MONDO:Redundant", source="MONDO:indirect"} ! uterine benign neoplasm is_a: MONDO:0003295 {source="DOID:5916", source="DOID:5917/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C40170"} ! leiomyomatosis +is_a: MONDO:0007886 {source="NCIT:C40170"} ! uterine corpus leiomyoma is_a: MONDO:0021525 {source="NCIT:C40170"} ! benign neoplasm of corpus uteri intersection_of: MONDO:0003295 ! leiomyomatosis intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -67755,6 +67903,7 @@ xref: DOID:5922 {source="MONDO:equivalentTo"} xref: MEDGEN:233962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6954 {source="DOID:5922", source="MONDO:equivalentTo"} xref: UMLS:C1332191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233962"} +is_a: MONDO:0002503 {source="NCIT:C6954"} ! adult astrocytic tumor is_a: MONDO:0003153 {source="DOID:5922", source="NCIT:C6954"} ! adult brainstem glioma is_a: MONDO:0003173 {source="NCIT:C6954"} ! brain stem astrocytic neoplasm @@ -68248,7 +68397,7 @@ xref: MEDGEN:231037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27400 {source="DOID:6016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231037"} is_a: MONDO:0003731 {source="DOID:6016", source="MONDO:Redundant", source="NCIT:C27400"} ! adult central nervous system teratoma -is_a: MONDO:0003733 {source="MONDO:Redundant", source="NCIT:C27400"} ! central nervous system mature teratoma +is_a: MONDO:0003733 {source="DOID:6016", source="MONDO:Redundant", source="NCIT:C27400"} ! central nervous system mature teratoma intersection_of: MONDO:0003733 ! central nervous system mature teratoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -68286,7 +68435,7 @@ xref: MEDGEN:231036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27401 {source="DOID:6018", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1332193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231036"} is_a: MONDO:0003731 {source="DOID:6018", source="MONDO:Redundant", source="NCIT:C27401"} ! adult central nervous system teratoma -is_a: MONDO:0003735 {source="MONDO:Redundant", source="NCIT:C27401"} ! central nervous system immature teratoma +is_a: MONDO:0003735 {source="DOID:6018", source="MONDO:Redundant", source="NCIT:C27401"} ! central nervous system immature teratoma intersection_of: MONDO:0003731 {source="NCIT:C27401"} ! adult central nervous system teratoma intersection_of: MONDO:0003735 {source="NCIT:C27401"} ! central nervous system immature teratoma @@ -68488,6 +68637,7 @@ xref: DOID:6041 {source="MONDO:equivalentTo"} xref: MEDGEN:272477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6099 {source="MONDO:equivalentTo", source="DOID:6041"} xref: UMLS:C1333027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272477"} +is_a: MONDO:0003744 {source="NCIT:C6099"} ! spindle cell intraocular melanoma is_a: MONDO:0003878 {source="DOID:6041", source="MONDO:Redundant", source="NCIT:C6099"} ! malignant choroid melanoma is_a: MONDO:0006427 {source="DOID:6041", source="MONDO:Redundant", source="NCIT:C6099/inferred"} ! spindle cell melanoma is_a: MONDO:0006486 {source="MONDO:Redundant", source="NCIT:C6099/inferred"} ! uveal melanoma @@ -68812,6 +68962,8 @@ xref: MEDGEN:208758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6552 {source="DOID:6082", source="MONDO:equivalentTo"} xref: UMLS:C0796663 {source="MEDGEN:208758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010108 {source="DOID:6082", source="MONDO:Redundant", source="NCIT:C6552"} ! testicular germ cell tumor +is_a: MONDO:0020577 {source="NCIT:C6552"} ! childhood gonadal germ cell tumor +is_a: MONDO:0037250 {source="NCIT:C6552"} ! childhood testicular neoplasm intersection_of: MONDO:0010108 ! testicular germ cell tumor intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -69205,6 +69357,7 @@ xref: MEDGEN:232693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5302 {source="DOID:6115", source="MONDO:equivalentTo"} xref: UMLS:C1334380 {source="MEDGEN:232693", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002772 {source="DOID:6115", source="MONDO:Redundant", source="NCIT:C5302"} ! intraventricular meningioma +is_a: MONDO:0003772 {source="DOID:6115", source="NCIT:C5302"} ! cerebral meningioma intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0002285 ! telencephalic ventricle @@ -69744,6 +69897,7 @@ xref: NCIT:C5550 {source="DOID:6190", source="MONDO:equivalentTo"} xref: UMLS:C1335681 {source="MONDO:equivalentTo", source="MEDGEN:277575", source="MONDO:MEDGEN"} is_a: MONDO:0002168 {source="DOID:6190", source="MONDO:Redundant", source="NCIT:C5550"} ! rectum sarcoma is_a: MONDO:0005055 {source="DOID:6190", source="MONDO:Entailed", source="NCIT:C5550/inferred"} ! Kaposi's sarcoma +is_a: MONDO:0024659 {source="NCIT:C5550"} ! colorectal Kaposi sarcoma intersection_of: MONDO:0005055 ! Kaposi's sarcoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -69887,7 +70041,7 @@ xref: SCTID:194988001 {source="DOID:62"} xref: SCTID:8722008 {source="DOID:62"} xref: UMLS:C1260873 {source="MEDGEN:226776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002869 {source="DOID:62", source="MONDO:Redundant", source="NCIT:C78650"} ! heart valve disorder -is_a: MONDO:0005561 {source="https://orcid.org/0000-0002-6601-2165"} ! aortic disorder +is_a: MONDO:0005561 {source="DOID:62", source="https://orcid.org/0000-0002-6601-2165"} ! aortic disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0002137 ! aortic valve @@ -70306,6 +70460,7 @@ xref: SCTID:254922006 {source="DOID:6245", source="MONDO:equivalentTo"} xref: UMLS:C0346255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91094"} is_a: MONDO:0002513 {source="DOID:6245", source="NCIT:C4526"} ! kidney benign neoplasm is_a: MONDO:0010795 {source="MONDO:Redundant", source="NCIT:C4526"} ! oncocytic neoplasm +is_a: MONDO:0036976 {source="NCIT:C4526"} ! benign epithelial neoplasm intersection_of: MONDO:0010795 ! oncocytic neoplasm intersection_of: disease_has_location UBERON:0002113 ! kidney property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma" xsd:anyURI {source="GARD:0008477"} @@ -70880,6 +71035,7 @@ xref: NCIT:C27108 {source="MONDO:equivalentTo", source="NCIT:C27108", source="DO xref: SCTID:235603003 {source="MONDO:equivalentTo", source="DOID:6297"} xref: UMLS:C0341110 {source="MEDGEN:87414", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001409 {source="DOID:6297", source="MONDO:Redundant", source="NCIT:C27108"} ! esophagitis +is_a: MONDO:0005108 {source="DOID:6297"} ! viral infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:10239 ! Viruses intersection_of: disease_has_inflammation_site UBERON:0001043 ! esophagus @@ -71663,6 +71819,7 @@ xref: MEDGEN:233582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27885 {source="DOID:6477", source="MONDO:equivalentTo", source="NCIT:C27885"} xref: UMLS:C1334281 {source="MEDGEN:233582", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005611 {source="DOID:6477", source="NCIT:C27885"} ! bladder transitional cell carcinoma +is_a: MONDO:0040678 {source="NCIT:C27885"} ! infiltrating urothelial carcinoma intersection_of: MONDO:0005611 ! bladder transitional cell carcinoma intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive @@ -72024,9 +72181,11 @@ xref: DOID:6518 {source="MONDO:equivalentTo"} xref: MEDGEN:307248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40300 {source="MONDO:equivalentTo", source="DOID:6518"} xref: UMLS:C1511049 {source="MEDGEN:307248", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002193 {source="DOID:6518"} ! Bartholin gland benign neoplasm is_a: MONDO:0002198 {source="NCIT:C40300"} ! vulvar glandular neoplasm is_a: MONDO:0005635 {source="DOID:6518", source="MONDO:Entailed", source="MONDO:Redundant"} ! adenomyoma is_a: MONDO:0021114 {source="MONDO:Redundant", source="NCIT:C40300/inferred"} ! Bartholin gland neoplasm +is_a: MONDO:0036976 {source="NCIT:C40300"} ! benign epithelial neoplasm intersection_of: MONDO:0005635 ! adenomyoma intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland @@ -72285,7 +72444,7 @@ xref: Orphanet:99888 {source="MONDO:equivalentObsolete"} xref: SCTID:302826002 {source="EFO:0003104", source="MONDO:equivalentTo"} xref: UMLS:C0206667 {source="MEDGEN:61654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000627 {source="DOID:0050891/inferred", source="DOID:656", source="MONDO:Redundant", source="NCIT:C9003"} ! benign endocrine neoplasm -is_a: MONDO:0004972 {source="EFO:0003104", source="MONDO:Redundant", source="NCIT:C9003"} ! adenoma +is_a: MONDO:0004972 {source="DOID:656", source="EFO:0003104", source="MONDO:Redundant", source="NCIT:C9003"} ! adenoma is_a: MONDO:0021511 {source="MONDO:Redundant", source="NCIT:C9003/inferred"} ! benign neoplasm of adrenal gland intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex @@ -72415,6 +72574,7 @@ xref: DOID:6575 {source="MONDO:equivalentTo"} xref: MEDGEN:232072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7534 {source="DOID:6575", source="MONDO:equivalentTo"} xref: UMLS:C1333014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232072"} +is_a: MONDO:0024649 {source="NCIT:C7534"} ! optic tract astrocytoma intersection_of: MONDO:0024649 ! optic tract astrocytoma intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0003234 {source="DOID:6575", source="https://orcid.org/0000-0001-5208-3432"} ! optic nerve astrocytoma @@ -72596,7 +72756,7 @@ xref: DOID:66 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD10CM:G70-G73 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M60-M63 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D009135 {source="EFO:0002970", source="MONDO:equivalentTo"} -is_a: MONDO:0002081 {source="https://orcid.org/0000-0002-6601-2165"} ! musculoskeletal system disorder +is_a: MONDO:0002081 {source="DOID:0080000", source="https://orcid.org/0000-0002-6601-2165"} ! musculoskeletal system disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0002385 ! muscle tissue relationship: excluded_subClassOf MONDO:0005172 {source="EFO:0002970", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal system disorder @@ -72667,7 +72827,7 @@ xref: DOID:6607 {source="MONDO:equivalentTo"} xref: MEDGEN:317749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6997 {source="MONDO:equivalentTo"} xref: UMLS:C1708362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:317749"} -is_a: MONDO:0003844 {source="MONDO:Redundant", source="NCIT:C6997"} ! central nervous system lipoma +is_a: MONDO:0003844 {source="DOID:6607", source="MONDO:Redundant", source="NCIT:C6997"} ! central nervous system lipoma is_a: MONDO:0021168 {source="MONDO:Redundant", source="NCIT:C6997"} ! hibernoma intersection_of: MONDO:0021168 ! hibernoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -72749,7 +72909,7 @@ xref: NCIT:C84783 {source="MONDO:equivalentTo"} xref: OMIMPS:308230 {source="MONDO:equivalentTo"} xref: SCTID:82286005 {source="MONDO:equivalentTo"} xref: UMLS:C0272236 {source="MEDGEN:124420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002468 {source="NCIT:C3990", source="https://orcid.org/0000-0002-6601-2165"} ! hyperimmunoglobulin syndrome +is_a: MONDO:0002468 {source="DOID:0080544", source="NCIT:C3990", source="https://orcid.org/0000-0002-6601-2165"} ! hyperimmunoglobulin syndrome intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: disease_disrupts GO:0023035 ! CD40 signaling pathway relationship: disease_has_feature HP:0002721 ! Immunodeficiency @@ -72882,6 +73042,7 @@ xref: MEDGEN:234603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6206 {source="MONDO:equivalentTo", source="DOID:6639"} xref: UMLS:C1377604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234603"} is_a: MONDO:0003750 {source="DOID:6639", source="MONDO:Redundant", source="NCIT:C6206"} ! childhood central nervous system germ cell tumor +is_a: MONDO:0016740 {source="NCIT:C6206"} ! choriocarcinoma of the central nervous system intersection_of: MONDO:0016740 ! choriocarcinoma of the central nervous system intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -73406,6 +73567,7 @@ xref: DOID:6752 {source="MONDO:equivalentTo"} xref: MEDGEN:232658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5452 {source="DOID:6752", source="MONDO:equivalentTo"} xref: UMLS:C1334226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232658"} +is_a: MONDO:0005106 {source="DOID:6752"} ! lipoma is_a: MONDO:0024320 {source="MONDO:Redundant", source="NCIT:C5452"} ! inner ear neoplasm intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0011859 ! internal acoustic meatus @@ -73434,7 +73596,7 @@ xref: SCTID:712750007 {source="DOID:6758"} xref: SCTID:93754006 {source="DOID:6758"} xref: UMLS:C1332933 {source="MEDGEN:232053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003274 {source="DOID:6758", source="MONDO:Redundant", source="NCIT:C6712/inferred"} ! thoracic cancer -is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C6712/inferred"} ! lymphoma +is_a: MONDO:0005062 {source="DOID:6758", source="MONDO:Redundant", source="NCIT:C6712/inferred"} ! lymphoma is_a: MONDO:0021323 {source="MONDO:Redundant", source="NCIT:C6712"} ! malignant neoplasm of chest wall intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0016435 ! chest wall @@ -73572,6 +73734,7 @@ xref: DOID:6787 {source="MONDO:equivalentTo"} xref: MEDGEN:232055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35556 {source="DOID:6787", source="MONDO:equivalentTo"} xref: UMLS:C1332945 {source="MEDGEN:232055", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003992 {source="NCIT:C35556"} ! childhood botryoid rhabdomyosarcoma is_a: MONDO:0003994 {source="DOID:6787", source="MONDO:Redundant", source="NCIT:C35556"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina intersection_of: MONDO:0003994 ! botryoid-type embryonal rhabdomyosarcoma of the vagina intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -73662,6 +73825,7 @@ xref: MEDGEN:232378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5516 {source="MONDO:equivalentTo", source="DOID:6804", source="MONDO:exact-label-match"} xref: UMLS:C1333091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232378"} is_a: MONDO:0003352 {source="DOID:6804", source="MONDO:Redundant", source="NCIT:C5516"} ! colon sarcoma +is_a: MONDO:0024659 {source="NCIT:C5516"} ! colorectal Kaposi sarcoma intersection_of: MONDO:0005055 ! Kaposi's sarcoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -73855,6 +74019,7 @@ xref: MEDGEN:233403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6186 {source="DOID:6844", source="MONDO:equivalentTo"} xref: UMLS:C1335752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233403"} is_a: MONDO:0002837 {source="DOID:6844", source="MONDO:Redundant", source="NCIT:C6186"} ! sarcomatoid transitional cell carcinoma +is_a: MONDO:0005221 {source="NCIT:C6186"} ! renal pelvis urothelial carcinoma intersection_of: MONDO:0002837 ! sarcomatoid transitional cell carcinoma intersection_of: disease_has_location UBERON:0001224 ! renal pelvis relationship: excluded_subClassOf MONDO:0000381 {source="DOID:6844", source="https://orcid.org/0000-0001-5208-3432"} ! infiltrating renal pelvis transitional cell carcinoma @@ -73911,6 +74076,7 @@ xref: MEDGEN:272994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40267 {source="MONDO:equivalentTo", source="DOID:6848"} xref: UMLS:C1515893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272994"} is_a: MONDO:0003994 {source="DOID:6848", source="MONDO:Redundant", source="NCIT:C40267"} ! botryoid-type embryonal rhabdomyosarcoma of the vagina +is_a: MONDO:0004012 {source="NCIT:C40267"} ! adult botryoid rhabdomyosarcoma intersection_of: MONDO:0003994 ! botryoid-type embryonal rhabdomyosarcoma of the vagina intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -74180,6 +74346,7 @@ xref: SCTID:300988009 {source="DOID:6888", source="MONDO:equivalentTo"} xref: UMLS:C0577692 {source="MONDO:equivalentTo", source="MEDGEN:108291", source="MONDO:MEDGEN"} is_a: MONDO:0006474 {source="DOID:6888", source="MONDO:0004030/inferred", source="MONDO:Entailed", source="NCIT:C4830/inferred"} ! transitional cell carcinoma is_a: MONDO:0006481 {source="DOID:6888", source="EFO:1001973", source="MONDO:Redundant", source="NCIT:C4830"} ! ureter carcinoma +is_a: MONDO:0020654 {source="NCIT:C4830"} ! renal pelvis/ureter urothelial carcinoma intersection_of: MONDO:0006474 ! transitional cell carcinoma intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -74323,6 +74490,7 @@ xref: UMLS:C1511190 {source="MEDGEN:267740", source="MONDO:equivalentTo", source is_a: MONDO:0000384 {source="DOID:6932", source="MONDO:Entailed", source="NCIT:C39859/inferred"} ! bladder benign neoplasm is_a: MONDO:0004041 {source="DOID:6932", source="MONDO:Redundant", source="NCIT:C39859/inferred"} ! urothelial papilloma is_a: MONDO:0021109 {source="MONDO:Redundant", source="NCIT:C39859"} ! inverted urothelial papilloma +is_a: MONDO:0044906 {source="NCIT:C39859"} ! bladder urothelial papilloma intersection_of: MONDO:0002537 ! inverted papilloma intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -74935,6 +75103,7 @@ is_a: MONDO:0002505 {source="DOID:7007", source="MONDO:Redundant", source="NCIT: is_a: MONDO:0002731 {source="DOID:7007", source="MONDO:Entailed"} ! cerebral hemisphere cancer is_a: MONDO:0005499 {source="DOID:7007", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma is_a: MONDO:0021631 {source="MONDO:Entailed", source="NCIT:C4347/inferred"} ! brain astrocytoma +is_a: MONDO:0021633 {source="NCIT:C4347"} ! cerebral astrocytoma intersection_of: MONDO:0002505 ! childhood astrocytic tumor intersection_of: disease_has_location UBERON:0001893 ! telencephalon property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood" xsd:anyURI {source="GARD:0009302"} @@ -75005,7 +75174,7 @@ xref: DOID:7017 {source="MONDO:equivalentTo"} xref: MEDGEN:232708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6500 {source="DOID:7017", source="MONDO:equivalentTo"} xref: UMLS:C1334438 {source="MEDGEN:232708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005106 {source="https://orcid.org/0000-0002-4142-7153"} ! lipoma +is_a: MONDO:0005106 {source="DOID:7017", source="https://orcid.org/0000-0002-4142-7153"} ! lipoma intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0006075 ! sacral region of vertebral column relationship: excluded_subClassOf MONDO:0000631 {source="DOID:7017", source="https://orcid.org/0000-0001-5208-3432"} ! bone benign neoplasm @@ -75864,6 +76033,7 @@ xref: NCIT:C6460 {source="MONDO:equivalentTo", source="DOID:7142", source="EFO:1 xref: UMLS:C1335980 {source="MEDGEN:234784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000402 {source="DOID:7142", source="MONDO:Redundant", source="NCIT:C6460"} ! small cell carcinoma is_a: MONDO:0006451 {source="DOID:7142", source="MONDO:Entailed", source="NCIT:C6460"} ! thymic carcinoma +is_a: MONDO:0020516 {source="NCIT:C6460"} ! thymic neuroendocrine carcinoma intersection_of: MONDO:0000402 ! small cell carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus @@ -76297,7 +76467,7 @@ xref: NCIT:C5743 {source="MONDO:equivalentTo", source="DOID:7221"} xref: UMLS:C1333753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232226"} is_a: MONDO:0002518 {source="MONDO:Redundant", source="NCIT:C5743"} ! gallbladder papillary neoplasm is_a: MONDO:0003220 {source="DOID:7221/inferred", source="NCIT:C5743"} ! gallbladder carcinoma -is_a: MONDO:0006215 {source="DOID:7221", source="MONDO:Entailed"} ! gallbladder adenocarcinoma +is_a: MONDO:0006215 {source="DOID:7221", source="MONDO:Entailed", source="NCIT:C5743"} ! gallbladder adenocarcinoma intersection_of: MONDO:0006509 ! papillary carcinoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -76685,6 +76855,7 @@ subset: rare synonym: "adenocarcinofibroma of body of uterus" EXACT [] synonym: "body of uterus adenocarcinofibroma" EXACT [MONDO:patterns/location] xref: DOID:7281 {source="MONDO:equivalentTo"} +is_a: MONDO:0002879 {source="DOID:7281"} ! uterine body mixed cancer intersection_of: MONDO:0002991 ! adenocarcinofibroma intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -77165,6 +77336,7 @@ xref: MEDGEN:235533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5556 {source="DOID:7356", source="MONDO:equivalentTo"} xref: UMLS:C1335689 {source="MONDO:equivalentTo", source="MEDGEN:235533", source="MONDO:MEDGEN"} is_a: MONDO:0006406 {source="DOID:7356", source="MONDO:Redundant", source="NCIT:C5556/inferred"} ! sarcomatoid carcinoma +is_a: MONDO:0044937 {source="NCIT:C5556"} ! rectal carcinoma intersection_of: MONDO:0006406 ! sarcomatoid carcinoma intersection_of: disease_has_location UBERON:0001052 ! rectum relationship: excluded_subClassOf MONDO:0018515 {source="DOID:7356", source="https://orcid.org/0000-0001-5208-3432"} ! squamous cell carcinoma of rectum @@ -77329,6 +77501,7 @@ xref: MEDGEN:235513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5374 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7388"} xref: UMLS:C1335575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235513"} is_a: MONDO:0004634 {source="DOID:7388", source="MONDO:Entailed", source="MONDO:Redundant"} ! vein disorder +is_a: MONDO:0005058 {source="DOID:7388"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002016 ! pulmonary vein relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7388", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary artery leiomyosarcoma @@ -77346,6 +77519,7 @@ xref: DOID:7389 {source="MONDO:equivalentTo"} xref: MEDGEN:233372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5373 {source="DOID:7389", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335572 {source="MEDGEN:233372", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000473 {source="DOID:7389"} ! arterial disorder is_a: MONDO:0005058 {source="DOID:7389", source="MONDO:Redundant", source="NCIT:C5373/inferred"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002012 ! pulmonary artery @@ -77364,6 +77538,7 @@ xref: DOID:7390 {source="MONDO:equivalentTo"} xref: MEDGEN:236963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6745 {source="MONDO:equivalentTo", source="DOID:7390", source="MONDO:exact-label-match"} xref: UMLS:C1336531 {source="MONDO:equivalentTo", source="MEDGEN:236963", source="MONDO:MEDGEN"} +is_a: MONDO:0005058 {source="DOID:7390"} ! leiomyosarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0001585 ! anterior vena cava relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7390", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary artery leiomyosarcoma @@ -77551,6 +77726,7 @@ xref: MEDGEN:272458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6207 {source="DOID:7429", source="MONDO:equivalentTo"} xref: UMLS:C1332948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272458"} is_a: MONDO:0002214 {source="DOID:7429", source="MONDO:Redundant", source="NCIT:C6207"} ! brain germinoma +is_a: MONDO:0004452 {source="NCIT:C6207"} ! childhood central nervous system germinoma intersection_of: MONDO:0002214 ! brain germinoma intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -78374,6 +78550,7 @@ xref: MEDGEN:232346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27403 {source="MONDO:equivalentTo", source="DOID:7516"} xref: UMLS:C1332956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232346"} is_a: MONDO:0003750 {source="DOID:7516", source="MONDO:Redundant", source="NCIT:C27403"} ! childhood central nervous system germ cell tumor +is_a: MONDO:0016742 {source="NCIT:C27403"} ! mixed germ cell tumor of central nervous system intersection_of: MONDO:0016742 ! mixed germ cell tumor of central nervous system intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -78391,6 +78568,7 @@ xref: NCIT:C34958 {source="MONDO:equivalentTo", source="DOID:7518"} xref: SCTID:191794003 {source="DOID:7518"} xref: SCTID:60103007 {source="MONDO:equivalentTo", source="DOID:7518"} xref: UMLS:C4022677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:892329"} +is_a: MONDO:0040674 {source="ICD10CM:F52.31"} ! orgasm disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_disrupts MF:0000061 ! orgasm intersection_of: disease_has_location UBERON:0003100 ! female organism @@ -78770,6 +78948,7 @@ xref: MESH:D020435 {source="DOID:7558"} xref: NCIT:C27212 {source="DOID:7558", source="MONDO:equivalentTo"} xref: UMLS:C0751942 {source="MONDO:equivalentTo", source="MEDGEN:155662", source="MONDO:MEDGEN"} is_a: MONDO:0002316 {source="MONDO:Redundant", source="NCIT:C27212"} ! motor peripheral neuropathy +is_a: MONDO:0002639 {source="DOID:7558"} ! glossopharyngeal nerve disorder intersection_of: MONDO:0002316 ! motor peripheral neuropathy intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve relationship: excluded_subClassOf MONDO:0004004 {source="DOID:7558", source="https://orcid.org/0000-0001-5208-3432"} ! motor nerve neuritis @@ -78945,6 +79124,7 @@ xref: DOID:7584 {source="MONDO:equivalentTo"} xref: MEDGEN:124721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8190 {source="MONDO:equivalentTo", source="DOID:7584"} xref: UMLS:C0280330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124721"} +is_a: MONDO:0002766 {source="NCIT:C8190"} ! larynx verrucous carcinoma is_a: MONDO:0004291 {source="DOID:7584", source="MONDO:Redundant", source="NCIT:C8190"} ! subglottis squamous cell carcinoma intersection_of: MONDO:0006006 ! verrucous carcinoma intersection_of: disease_has_location UBERON:0036068 ! subglottis @@ -78988,6 +79168,7 @@ xref: DOID:7586 {source="MONDO:equivalentTo"} xref: MEDGEN:76098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8191 {source="MONDO:equivalentTo", source="DOID:7586"} xref: UMLS:C0280331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76098"} +is_a: MONDO:0002766 {source="NCIT:C8191"} ! larynx verrucous carcinoma is_a: MONDO:0004293 {source="DOID:7586", source="MONDO:Redundant", source="NCIT:C8191"} ! supraglottis squamous cell carcinoma intersection_of: MONDO:0006006 ! verrucous carcinoma intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of larynx @@ -79351,6 +79532,7 @@ xref: NCIT:C39864 {source="DOID:7632", source="MONDO:equivalentTo"} xref: UMLS:C1516284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:273091"} is_a: MONDO:0003975 {source="MONDO:Redundant", source="NCIT:C39864"} ! Littre gland carcinoma is_a: MONDO:0004197 {source="MONDO:Redundant", source="NCIT:C39864"} ! male urethral cancer +is_a: MONDO:0005836 {source="DOID:7632"} ! male reproductive organ cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002366 ! bulbo-urethral gland @@ -79587,6 +79769,7 @@ xref: MEDGEN:308260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39952 {source="DOID:7676", source="MONDO:equivalentTo"} xref: UMLS:C1515299 {source="MONDO:equivalentTo", source="MEDGEN:308260", source="MONDO:MEDGEN"} is_a: MONDO:0003125 {source="DOID:7676", source="MONDO:Redundant", source="NCIT:C39952/inferred"} ! testicular sex cord-stromal neoplasm +is_a: MONDO:0037252 {source="NCIT:C39952"} ! thecoma intersection_of: MONDO:0037252 ! thecoma intersection_of: disease_has_location UBERON:0000473 ! testis @@ -79645,7 +79828,7 @@ xref: SCTID:707339009 {source="MONDO:equivalentTo"} xref: UMLS:C1334642 {source="MEDGEN:233167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001748 {source="DOID:7684", source="MONDO:Redundant", source="NCIT:C6240", source="NCIT:C6240/inferred"} ! maxillary sinus carcinoma is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6240/inferred"} ! head and neck carcinoma -is_a: MONDO:0004970 {source="DOID:7684/inferred", source="MONDO:Redundant", source="NCIT:C6240/inferred"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:7684", source="DOID:7684/inferred", source="MONDO:Redundant", source="NCIT:C6240/inferred"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell @@ -79709,7 +79892,8 @@ xref: MESH:C536474 {source="MONDO:equivalentTo"} xref: NCIT:C39843 {source="MONDO:equivalentTo", source="NCIT:C39843", source="DOID:7694"} xref: ONCOTREE:UA {source="MONDO:equivalentTo"} xref: UMLS:C2931201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419014"} -is_a: MONDO:0002751 {source="MONDO:Redundant", source="NCIT:C39843"} ! bladder adenocarcinoma +is_a: MONDO:0001378 {source="DOID:7694"} ! urachus cancer +is_a: MONDO:0002751 {source="DOID:7694", source="MONDO:Redundant", source="NCIT:C39843"} ! bladder adenocarcinoma is_a: MONDO:0003715 {source="DOID:7694", source="NCIT:C39843", source="ONCOTREE:UA"} ! bladder urachal carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0002068 ! urachus @@ -79887,6 +80071,7 @@ xref: NCIT:C9168 {source="MONDO:equivalentTo", source="DOID:7707"} xref: UMLS:C0279654 {source="MEDGEN:124641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002169 {source="DOID:7707", source="MONDO:Redundant", source="NCIT:C9168"} ! rectum adenocarcinoma is_a: MONDO:0005092 {source="DOID:7707", source="MONDO:Entailed", source="NCIT:C9168/inferred"} ! signet ring cell carcinoma +is_a: MONDO:0044336 {source="NCIT:C9168"} ! colorectal signet ring cell carcinoma intersection_of: MONDO:0005092 ! signet ring cell carcinoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -80394,6 +80579,7 @@ xref: MEDGEN:107849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27183 {source="MONDO:equivalentTo", source="DOID:7806"} xref: SCTID:276829003 {source="MONDO:equivalentTo", source="DOID:7806"} xref: UMLS:C0559185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107849"} +is_a: MONDO:0002542 {source="DOID:7806"} ! spinal cord glioma is_a: MONDO:0020690 {source="NCIT:C27183"} ! adult glioblastoma intersection_of: MONDO:0018177 ! glioblastoma intersection_of: disease_has_location UBERON:0002240 ! spinal cord @@ -80554,7 +80740,7 @@ xref: MEDGEN:83016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7925 {source="MONDO:equivalentTo", source="DOID:7827"} xref: UMLS:C0278985 {source="MEDGEN:83016", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002129 {source="DOID:7827", source="MONDO:Redundant"} ! bone cancer -is_a: MONDO:0002621 {source="MONDO:Redundant", source="NCIT:C7925"} ! extraosseous osteosarcoma +is_a: MONDO:0002621 {source="DOID:7827", source="MONDO:Redundant", source="NCIT:C7925"} ! extraosseous osteosarcoma intersection_of: MONDO:0002621 ! extraosseous osteosarcoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -80950,6 +81136,7 @@ xref: NCIT:C6064 {source="DOID:7910", source="MONDO:equivalentTo"} xref: SCTID:707354003 {source="MONDO:equivalentTo"} xref: UMLS:C1334647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277348"} is_a: MONDO:0001748 {source="DOID:7910", source="MONDO:Redundant", source="NCIT:C6064", source="NCIT:C6064/inferred"} ! maxillary sinus carcinoma +is_a: MONDO:0044705 {source="NCIT:C6064"} ! paranasal sinus squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus @@ -81540,6 +81727,7 @@ xref: MEDGEN:698541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5277 {source="DOID:8006"} xref: UMLS:C1275260 {source="MEDGEN:698541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002898 {source="DOID:8006", source="MONDO:Entailed"} ! skin cancer +is_a: MONDO:0016642 {source="DOID:8006"} ! meningioma intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -81746,6 +81934,7 @@ xref: DOID:8031 {source="MONDO:equivalentTo"} xref: MEDGEN:235478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6756 {source="MONDO:equivalentTo", source="DOID:8031"} xref: UMLS:C1335418 {source="MONDO:equivalentTo", source="MEDGEN:235478", source="MONDO:MEDGEN"} +is_a: MONDO:0016642 {source="DOID:8031"} ! meningioma is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C6756"} ! pineal body neoplasm intersection_of: MONDO:0016642 ! meningioma intersection_of: disease_has_location UBERON:0001905 ! pineal body @@ -81909,6 +82098,7 @@ xref: MEDGEN:539079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:266254007 {source="MONDO:equivalentTo"} xref: UMLS:C0265101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:539079"} is_a: MONDO:0003718 {source="DOID:807", source="MONDO:Redundant"} ! occlusion precerebral artery +is_a: MONDO:0005269 {source="DOID:807"} ! carotid artery disorder intersection_of: MONDO:0003718 ! occlusion precerebral artery intersection_of: disease_has_location UBERON:0005396 ! carotid artery segment @@ -81941,6 +82131,7 @@ xref: MEDGEN:272460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27406 {source="MONDO:equivalentTo", source="DOID:8078"} xref: UMLS:C1332953 {source="MONDO:equivalentTo", source="MEDGEN:272460", source="MONDO:MEDGEN"} is_a: MONDO:0002999 {source="DOID:8078", source="MONDO:Redundant", source="NCIT:C27406"} ! central nervous system germinoma +is_a: MONDO:0003750 {source="NCIT:C27406"} ! childhood central nervous system germ cell tumor intersection_of: MONDO:0002999 ! central nervous system germinoma intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -82293,7 +82484,7 @@ xref: DOID:8130 {source="MONDO:equivalentTo"} xref: MEDGEN:307307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40355 {source="MONDO:equivalentTo", source="DOID:8130", source="MONDO:exact-label-match"} xref: UMLS:C1511305 {source="MEDGEN:307307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002707 {source="DOID:8130"} ! breast mucinous carcinoma +is_a: MONDO:0002707 {source="DOID:8130", source="NCIT:C40355"} ! breast mucinous carcinoma is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C40355"} ! mucinous adenocarcinoma is_a: MONDO:0004988 {source="DOID:8130/inferred", source="MONDO:Redundant", source="NCIT:C40355"} ! breast adenocarcinoma is_a: MONDO:0006256 {source="MONDO:Redundant", source="NCIT:C40355"} ! invasive breast carcinoma @@ -82556,6 +82747,7 @@ xref: NCIT:C5735 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", xref: UMLS:C1333749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232225"} is_a: MONDO:0005105 {source="DOID:8167", source="MONDO:Entailed", source="NCIT:C5735/inferred"} ! melanoma is_a: MONDO:0005411 {source="DOID:8167", source="MONDO:Redundant", source="NCIT:C5735"} ! gallbladder cancer +is_a: MONDO:0045070 {source="NCIT:C5735"} ! digestive system melanoma intersection_of: MONDO:0005105 ! melanoma intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -82650,7 +82842,7 @@ xref: ONCOTREE:UCCA {source="MONDO:equivalentTo"} xref: UMLS:C1336904 {source="MONDO:equivalentTo", source="MEDGEN:234466", source="MONDO:MEDGEN"} is_a: MONDO:0005207 {source="DOID:8188", source="MONDO:Redundant", source="NCIT:C27246/inferred"} ! choriocarcinoma is_a: MONDO:0006003 {source="DOID:8188", source="MONDO:Entailed"} ! uterine corpus cancer -is_a: MONDO:0020550 {source="DOID:8187", source="MONDO:Redundant"} ! gestational choriocarcinoma +is_a: MONDO:0020550 {source="DOID:8187", source="MONDO:Redundant", source="NCIT:C27246"} ! gestational choriocarcinoma is_a: MONDO:0024575 {source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder intersection_of: MONDO:0020550 ! gestational choriocarcinoma intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -82966,7 +83158,7 @@ xref: NCIT:C6508 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", xref: SCTID:28655007 {source="DOID:8233"} xref: UMLS:C1370890 {source="MEDGEN:234588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005103 {source="NCIT:C6508"} ! well-differentiated liposarcoma -is_a: MONDO:0006097 {source="DOID:8233"} ! atypical lipomatous tumor +is_a: MONDO:0006097 {source="DOID:8233", source="NCIT:C6508"} ! atypical lipomatous tumor [Term] id: MONDO:0004511 @@ -83076,6 +83268,7 @@ xref: ICD9:016.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:509076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:81359005 {source="MONDO:equivalentTo", source="DOID:827"} xref: UMLS:C0152800 {source="MONDO:equivalentTo", source="MEDGEN:509076", source="MONDO:MEDGEN"} +is_a: MONDO:0001926 {source="DOID:827"} ! ureteral disorder is_a: MONDO:0006002 {source="DOID:827", source="MONDO:Redundant"} ! urogenital tuberculosis intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -83119,7 +83312,7 @@ xref: DOID:8274 {source="MONDO:equivalentTo"} xref: MEDGEN:234375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6525 {source="MONDO:equivalentTo", source="DOID:8274"} xref: UMLS:C1336546 {source="MEDGEN:234375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006500 {source="DOID:8274/inferred", source="MONDO:Redundant", source="NCIT:C6525"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:8274", source="DOID:8274/inferred", source="MONDO:Redundant", source="NCIT:C6525"} ! hemangioma is_a: MONDO:0024715 {source="NCIT:C6525"} ! benign synovial neoplasm intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0007616 ! layer of synovial tissue @@ -83288,6 +83481,7 @@ xref: DOID:8304 {source="MONDO:equivalentTo"} xref: MEDGEN:277487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6584 {source="DOID:8304", source="MONDO:equivalentTo"} xref: UMLS:C1335295 {source="MONDO:equivalentTo", source="MEDGEN:277487", source="MONDO:MEDGEN"} +is_a: MONDO:0040675 {source="NCIT:C6584"} ! myofibroblastoma intersection_of: MONDO:0040675 {source="NCIT:C6584"} ! myofibroblastoma intersection_of: disease_has_location UBERON:0001542 {source="NCIT:C6584"} ! inguinal lymph node relationship: excluded_subClassOf MONDO:0001082 {source="DOID:8304", source="https://orcid.org/0000-0001-5208-3432"} ! lymph node cancer @@ -83459,6 +83653,8 @@ xref: DOID:8352 {source="MONDO:equivalentTo"} xref: MEDGEN:235290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5375 {source="MONDO:equivalentTo", source="DOID:8352"} xref: UMLS:C1334560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235290"} +is_a: MONDO:0005561 {source="DOID:8352"} ! aortic disorder +is_a: MONDO:0040676 {source="NCIT:C5375"} ! great vessel cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000947 ! aorta relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8352", source="https://orcid.org/0000-0001-5208-3432"} ! vascular cancer @@ -83759,6 +83955,7 @@ xref: DOID:8410 {source="MONDO:equivalentTo"} xref: MEDGEN:272468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6565 {source="MONDO:equivalentTo", source="DOID:8410"} xref: UMLS:C1333000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:272468"} +is_a: MONDO:0002730 {source="NCIT:C6565"} ! childhood kidney neoplasm is_a: MONDO:0004555 {source="DOID:8410", source="MONDO:Redundant", source="NCIT:C6565"} ! kidney angiomyolipoma intersection_of: MONDO:0004555 ! kidney angiomyolipoma intersection_of: has_characteristic HP:0011463 ! Childhood onset @@ -84299,6 +84496,7 @@ xref: SCTID:367538001 {source="DOID:8481"} xref: SCTID:4536006 {source="DOID:8481"} xref: SCTID:8805001 {source="DOID:8481"} xref: UMLS:C0155557 {source="MEDGEN:56370", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004496 {source="DOID:8481"} ! myocarditis is_a: MONDO:0006955 {source="DOID:8481", source="NCIT:C35202/inferred"} ! rheumatic heart disease intersection_of: MONDO:0004496 ! myocarditis intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthritis @@ -84622,7 +84820,7 @@ xref: SCTID:194884000 {source="DOID:8514"} xref: SCTID:49584005 {source="MONDO:equivalentTo", source="DOID:8517"} xref: SCTID:67189007 {source="DOID:8514", source="MONDO:equivalentTo"} xref: UMLS:C0155671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510041"} -is_a: MONDO:0004596 {source="https://orcid.org/0000-0001-5208-3432"} ! cor pulmonale +is_a: MONDO:0004596 {source="DOID:8514", source="https://orcid.org/0000-0001-5208-3432"} ! cor pulmonale intersection_of: MONDO:0004596 ! cor pulmonale intersection_of: has_characteristic PATO:0000389 ! acute relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -85621,6 +85819,7 @@ xref: SCTID:189213006 {source="DOID:8661"} xref: SCTID:271325000 {source="DOID:8661"} xref: SCTID:92643000 {source="MONDO:equivalentTo"} xref: UMLS:C0347082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83849"} +is_a: MONDO:0000371 {source="DOID:8661"} ! oral cavity carcinoma in situ is_a: MONDO:0006834 {source="MONDO:Redundant", source="NCIT:C4588/inferred"} ! lip cancer is_a: MONDO:0021333 {source="MONDO:Redundant", source="NCIT:C4588"} ! carcinoma of lip intersection_of: MONDO:0004647 ! in situ carcinoma @@ -86107,6 +86306,7 @@ xref: SCTID:188342008 {source="DOID:8731"} xref: SCTID:447883002 {source="DOID:8731", source="MONDO:equivalentTo"} xref: SCTID:93740003 {source="DOID:8731"} xref: UMLS:C0153656 {source="MEDGEN:56318", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002095 {source="DOID:8731"} ! vascular cancer is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C3574"} ! head and neck cancer is_a: MONDO:0021053 {source="MONDO:Redundant", source="NCIT:C3574"} ! carotid body paraganglioma is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C3574/inferred"} ! malignant endocrine neoplasm @@ -86169,7 +86369,7 @@ xref: SCTID:195891009 {source="DOID:874"} xref: SCTID:195892002 {source="DOID:874"} xref: SCTID:53084003 {source="DOID:874", source="MONDO:equivalentTo"} xref: UMLS:C0004626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:484"} -is_a: MONDO:0005113 {source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:874", source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! bacterial infectious disease is_a: MONDO:0005249 {source="DOID:874", source="EFO:1001272", source="MESH:D018410", source="MONDO:Redundant", source="NCIT:C26704"} ! pneumonia intersection_of: MONDO:0005249 ! pneumonia intersection_of: MONDO:0005550 ! infectious disease @@ -86571,6 +86771,7 @@ xref: SCTID:94076001 {source="DOID:8849"} xref: UMLS:C0153361 {source="MEDGEN:102263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004669 {source="DOID:8849", source="MONDO:Entailed", source="NCIT:C3527", source="NCIT:C3527/inferred"} ! salivary gland cancer is_a: MONDO:0021242 {source="MONDO:Redundant", source="NCIT:C3527"} ! sublingual gland neoplasm +is_a: MONDO:0044743 {source="NCIT:C3527"} ! major salivary gland cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001832 ! sublingual gland @@ -87142,7 +87343,7 @@ xref: UMLS:C0085413 {source="MEDGEN:88404", source="MONDO:equivalentTo", source= is_a: MONDO:0000426 {source="DOID:898", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005240 {source="DOID:898", source="EFO:1001496/inferred", source="NCIT:C84578/inferred"} ! kidney disorder is_a: MONDO:0019741 {source="EFO:1001496", source="MONDO:Redundant", source="Orphanet:730"} ! familial cystic renal disease -is_a: MONDO:0020642 {source="NCIT:C84578"} ! polycystic kidney disease +is_a: MONDO:0020642 {source="DOID:898", source="NCIT:C84578"} ! polycystic kidney disease intersection_of: MONDO:0020642 {source="NCIT:C84578"} ! polycystic kidney disease intersection_of: has_characteristic HP:0000006 {source="NCIT:C84578"} ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="Orphanet:730"} ! Autosomal dominant inheritance @@ -87228,7 +87429,7 @@ xref: DOID:901 {source="MONDO:equivalentTo"} xref: MEDGEN:207276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4949 {source="DOID:901", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1112746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:207276"} -is_a: MONDO:0002691 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! liver cancer +is_a: MONDO:0002691 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949", source="NCIT:C4949/inferred"} ! liver cancer is_a: MONDO:0004699 {source="MONDO:Redundant", source="NCIT:C4949"} ! gastrointestinal lymphoma is_a: MONDO:0005062 {source="DOID:901", source="MONDO:Redundant", source="NCIT:C4949/inferred"} ! lymphoma intersection_of: MONDO:0005062 ! lymphoma @@ -87333,7 +87534,7 @@ xref: NCIT:C38162 {source="DOID:903", source="MONDO:equivalentTo"} xref: SCTID:449072004 {source="DOID:903", source="MONDO:equivalentTo"} xref: UMLS:C0740372 {source="MEDGEN:148147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002516 {source="DOID:903", source="NCIT:C38162"} ! digestive system cancer -is_a: MONDO:0005062 {source="MONDO:Redundant", source="NCIT:C38162/inferred"} ! lymphoma +is_a: MONDO:0005062 {source="DOID:903", source="MONDO:Redundant", source="NCIT:C38162/inferred"} ! lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001007 ! digestive system @@ -87378,6 +87579,7 @@ xref: UMLS:C0747273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0004669 {source="DOID:9036", source="MESH:D010307", source="MONDO:Entailed", source="NCIT:C3525", source="NCIT:C3525/inferred"} ! salivary gland cancer is_a: MONDO:0005899 {source="DOID:9036", source="MESH:D010307", source="MONDO:Redundant", source="MONDO:indirect"} ! parotid disorder is_a: MONDO:0021243 {source="MONDO:Redundant", source="NCIT:C3525"} ! parotid gland neoplasm +is_a: MONDO:0044743 {source="NCIT:C3525"} ! major salivary gland cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001831 ! parotid gland @@ -88228,6 +88430,7 @@ xref: Orphanet:394 {source="DOID:9263"} xref: SCTID:11282001 {source="MONDO:equivalentTo", source="DOID:9263"} xref: SCTID:190709008 {source="DOID:9263"} xref: UMLS:C0019880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42485"} +is_a: MONDO:0004736 {source="DOID:9263"} ! inborn disorder of amino acid metabolism intersection_of: MONDO:0004736 ! inborn disorder of amino acid metabolism intersection_of: disease_has_basis_in_disruption_of GO:0050667 ! homocysteine metabolic process property_value: IAO:0000589 "homocystinuria (disease)" xsd:string @@ -89176,6 +89379,7 @@ xref: SCTID:266396008 {source="DOID:9415"} xref: SCTID:389145006 {source="DOID:9415", source="MONDO:equivalentTo"} xref: SCTID:389146007 {source="DOID:9415"} xref: UMLS:C0155877 {source="MEDGEN:102343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000771 {source="DOID:9415"} ! allergic respiratory disease is_a: MONDO:0004979 {source="DOID:9415", source="MONDO:Entailed", source="MONDO:Redundant"} ! asthma intersection_of: MONDO:0004979 ! asthma intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity @@ -89318,7 +89522,7 @@ xref: SCTID:390002007 {source="DOID:9452"} xref: SCTID:442191002 {source="EFO:0003934"} xref: SCTID:5360002 {source="DOID:9452"} xref: UMLS:C2711227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:398225"} -is_a: MONDO:0005154 {source="MESH:D005234", source="MONDO:Redundant"} ! liver disorder +is_a: MONDO:0005154 {source="DOID:9452", source="MESH:D005234", source="MONDO:Redundant"} ! liver disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_feature HP:0001397 ! Hepatic steatosis relationship: disease_has_basis_in_disruption_of GO:0071830 ! triglyceride-rich lipoprotein particle clearance @@ -89897,6 +90101,7 @@ xref: NCIT:C26995 {source="DOID:9589", source="MONDO:otherHierarchy"} xref: SCTID:155880008 {source="DOID:9589"} xref: SCTID:20342001 {source="DOID:9589", source="MONDO:equivalentTo"} xref: UMLS:C0162301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57664"} +is_a: MONDO:0004184 {source="DOID:9589"} ! urethral disorder is_a: MONDO:0004828 {source="DOID:9589", source="MONDO:Redundant"} ! lower urinary tract calculus intersection_of: MONDO:0024647 ! urolithiasis intersection_of: disease_has_location UBERON:0000057 ! urethra @@ -89945,6 +90150,7 @@ xref: SCTID:197832004 {source="DOID:9590"} xref: SCTID:79509009 {source="MONDO:equivalentTo", source="DOID:9590"} xref: UMLS:C0156264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510219"} is_a: MONDO:0002118 {source="DOID:9590"} ! urinary system disorder +is_a: MONDO:0024647 {source="ICD10CM:N21.9"} ! urolithiasis intersection_of: MONDO:0024647 ! urolithiasis intersection_of: disease_has_location UBERON:0001556 ! lower urinary tract @@ -90534,7 +90740,7 @@ xref: SCTID:197416005 {source="DOID:9714", source="MONDO:equivalentTo"} xref: SCTID:197420009 {source="DOID:9714"} xref: SCTID:75726005 {source="DOID:9714"} xref: UMLS:C0156214 {source="MEDGEN:57845", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005281 {source="DOID:9714"} ! gallbladder disorder +is_a: MONDO:0005281 {source="DOID:9714", source="ICD10CM:K82.0"} ! gallbladder disorder [Term] id: MONDO:0004859 @@ -90547,7 +90753,7 @@ xref: MEDGEN:509035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:197421008 {source="DOID:9717"} xref: SCTID:47312008 {source="DOID:9717", source="MONDO:equivalentTo"} xref: UMLS:C0152445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509035"} -is_a: MONDO:0005281 {source="DOID:9717"} ! gallbladder disorder +is_a: MONDO:0005281 {source="DOID:9717", source="ICD10CM:K82.1"} ! gallbladder disorder [Term] id: MONDO:0004860 @@ -90672,6 +90878,7 @@ xref: SCTID:194277003 {source="DOID:9739"} xref: SCTID:194278008 {source="DOID:9739"} xref: SCTID:69494008 {source="MONDO:equivalentTo"} xref: UMLS:C0271468 {source="MEDGEN:543364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003276 {source="ICD10CM:H68"} ! middle ear disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0002393 ! pharyngotympanic tube relationship: excluded_subClassOf MONDO:0001212 {source="DOID:9739", source="https://orcid.org/0000-0001-5208-3432"} ! non-suppurative otitis media @@ -91003,7 +91210,7 @@ xref: SCTID:267617003 {source="DOID:980"} xref: SCTID:406446000 {source="MONDO:equivalentTo", source="DOID:980"} xref: SCTID:47638000 {source="DOID:980"} xref: UMLS:C0344297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137998"} -is_a: MONDO:0001898 {source="MESH:C535358", source="MONDO:Redundant"} ! optic choroid disorder +is_a: MONDO:0001898 {source="DOID:980", source="MESH:C535358", source="MONDO:Redundant"} ! optic choroid disorder is_a: MONDO:0004884 {source="DOID:980", source="MONDO:Redundant"} ! eye degenerative disorder intersection_of: MONDO:0005559 ! neurodegenerative disease intersection_of: disease_has_location UBERON:0001776 ! optic choroid @@ -91961,7 +92168,7 @@ xref: NCIT:C6095 {source="DOID:9987", source="MONDO:equivalentTo"} xref: SCTID:699354006 {source="DOID:9987", source="MONDO:equivalentTo"} xref: UMLS:C1335131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277449"} is_a: MONDO:0002889 {source="DOID:9987", source="MONDO:Redundant", source="NCIT:C6095"} ! orbital cancer -is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C6095/inferred"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:9987", source="MONDO:Redundant", source="NCIT:C6095/inferred"} ! sarcoma intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location UBERON:0001697 ! orbit of skull @@ -92193,7 +92400,7 @@ xref: SCTID:372143007 {source="DOID:5517"} xref: SCTID:92756002 {source="MONDO:relatedTo", source="EFO:0000178"} xref: SCTID:93809003 {source="DOID:10538"} xref: UMLS:C0699791 {source="MEDGEN:147066", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001056 {source="DOID:5517", source="MONDO:Redundant", source="NCIT:C4911"} ! gastric cancer +is_a: MONDO:0001056 {source="DOID:10538", source="DOID:5517", source="MONDO:Redundant", source="NCIT:C4911"} ! gastric cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4911"} ! digestive system carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -92458,6 +92665,8 @@ xref: SCTID:307502000 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: UMLS:C0585362 {source="MEDGEN:108436", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005515 {source="DOID:0050866", source="NCIT:C4833/inferred"} ! oral cavity cancer is_a: MONDO:0010150 {source="EFO:0000199", source="MONDO:Entailed", source="NCIT:C4833/inferred", source="ONCOTREE:OCSC"} ! head and neck squamous cell carcinoma +is_a: MONDO:0044710 {source="NCIT:C4833", source="Orphanet:502363"} ! lip and oral cavity squamous cell carcinoma +is_a: MONDO:0044925 {source="NCIT:C4833"} ! oral cavity carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000165 ! mouth relationship: disease_has_location UBERON:0000165 {source="EFO:0000784"} ! mouth @@ -92601,7 +92810,7 @@ xref: SCTID:188729005 {source="DOID:5603"} xref: SCTID:277575008 {source="MONDO:equivalentTo", source="EFO:0000209"} xref: SCTID:77430005 {source="DOID:5603"} xref: UMLS:C1961099 {source="MEDGEN:368378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004967 {source="EFO:0000209", source="MONDO:Redundant", source="NCIT:C3183"} ! acute lymphoblastic leukemia +is_a: MONDO:0004967 {source="DOID:5603", source="EFO:0000209", source="MONDO:Redundant", source="NCIT:C3183"} ! acute lymphoblastic leukemia is_a: MONDO:0005525 {source="DOID:5603"} ! T-cell leukemia intersection_of: MONDO:0004967 ! acute lymphoblastic leukemia intersection_of: disease_arises_from_structure CL:0000084 ! T cell @@ -92777,6 +92986,7 @@ xref: UMLS:C0023449 {source="MEDGEN:7317", source="MONDO:equivalentTo", source=" is_a: MONDO:0003538 {source="EFO:0000220", source="NCIT:C3167"} ! precursor lymphoblastic lymphoma/leukemia is_a: MONDO:0005168 {source="EFO:0000220"} ! neoplasm of immature B and T cells is_a: MONDO:0005402 {source="NCIT:C3167"} ! lymphoid leukemia +is_a: MONDO:0010643 {source="DOID:9952", source="NCIT:C3167"} ! acute leukemia is_a: MONDO:0018908 {source="Orphanet:513"} ! non-Hodgkin lymphoma intersection_of: MONDO:0005402 ! lymphoid leukemia intersection_of: has_characteristic PATO:0000389 ! acute @@ -93227,7 +93437,7 @@ xref: EFO:0000279 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:766708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:258150 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: UMLS:C3553794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766708"} -is_a: MONDO:0005372 {source="DOID:14227", source="MESH:D053713"} ! male infertility +is_a: MONDO:0005372 {source="DOID:0111910", source="DOID:14227", source="MESH:D053713"} ! male infertility relationship: disease_has_location CL:0000019 {source="EFO:0000784"} ! sperm relationship: disease_has_location UBERON:0000079 {source="EFO:0000784"} ! male reproductive system relationship: has_characteristic MONDO:0021152 {source="OMIMPS:258150"} ! inherited @@ -93570,7 +93780,7 @@ xref: SCTID:68453008 {source="DOID:305", source="EFO:0000313"} xref: SCTID:71298006 {source="DOID:305"} xref: SCTID:722688002 {source="MONDO:equivalentTo"} xref: UMLS:C0007097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2867"} -is_a: MONDO:0004992 {source="DOID:305", source="DOID:305/inferred", source="EFO:0000313", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:305", source="DOID:305/inferred", source="EFO:0000313", source="MONDO:Redundant", source="NCIT:C2916"} ! cancer is_a: MONDO:0005626 {source="MESH:D002277", source="MONDO:Redundant", source="NCIT:C2916"} ! epithelial neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_arises_from_structure CL:0000066 ! epithelial cell @@ -93612,7 +93822,7 @@ xref: SCTID:85898001 {source="DOID:0050700", source="MONDO:equivalentTo", source xref: SCTID:89461002 {source="DOID:0050700"} xref: SCTID:89600009 {source="DOID:0050700"} xref: UMLS:C0878544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:209232"} -is_a: MONDO:0005267 {source="Orphanet:167848"} ! heart disorder +is_a: MONDO:0005267 {source="DOID:0050700", source="Orphanet:167848"} ! heart disorder relationship: disease_has_location UBERON:0001133 ! cardiac muscle tissue relationship: has_characteristic MONDO:0021136 {source="MONDO:0019996"} ! rare @@ -93704,6 +93914,7 @@ xref: MEDGEN:65075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9160 {source="EFO:0000330", source="MONDO:equivalentTo", source="DOID:0070323"} xref: UMLS:C0220621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65075"} is_a: MONDO:0004355 {source="DOID:0070323", source="MONDO:Redundant", source="NCIT:C9160"} ! childhood leukemia +is_a: MONDO:0018874 {source="NCIT:C9160"} ! acute myeloid leukemia intersection_of: MONDO:0018874 ! acute myeloid leukemia intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000330", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia @@ -94034,9 +94245,10 @@ xref: ONCOTREE:COADREAD {source="MONDO:equivalentTo"} xref: SCTID:269533000 {source="EFO:0000365", source="MONDO:directSiblingOf"} xref: SCTID:408645001 {source="MONDO:equivalentTo"} xref: UMLS:C1319315 {source="MEDGEN:230816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004970 {source="DOID:0050913", source="EFO:0000365", source="MONDO:Redundant", source="NCIT:C5105"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:0050861", source="DOID:0050913", source="EFO:0000365", source="MONDO:Redundant", source="NCIT:C5105"} ! adenocarcinoma is_a: MONDO:0005575 {source="DOID:0050861", source="DOID:0050861/inferred", source="DOID:0050913", source="MONDO:0005008/inferred", source="MONDO:Redundant", source="NCIT:C5105", source="NCIT:C5105/inferred"} ! colorectal cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C5105/inferred"} ! digestive system carcinoma +is_a: MONDO:0024331 {source="DOID:0050861", source="NCIT:C5105"} ! colorectal carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0012652 ! colorectum @@ -94702,7 +94914,7 @@ xref: ONCOTREE:ESCA {source="MONDO:equivalentTo"} xref: Orphanet:99976 {source="MONDO:equivalentTo"} xref: SCTID:276803003 {source="MONDO:equivalentTo", source="EFO:0000478", source="DOID:4914"} xref: UMLS:C0279628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124636"} -is_a: MONDO:0004970 {source="EFO:0000478", source="MONDO:Redundant", source="NCIT:C4025"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:4914", source="EFO:0000478", source="MONDO:Redundant", source="NCIT:C4025"} ! adenocarcinoma is_a: MONDO:0019086 {source="DOID:4914", source="MONDO:Redundant", source="NCIT:C4025", source="Orphanet:99976"} ! carcinoma of esophagus intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001043 ! esophagus @@ -94861,7 +95073,7 @@ xref: SCTID:77653004 {source="EFO:0000499"} xref: SCTID:79494009 {source="EFO:0000499"} xref: SCTID:86143001 {source="EFO:0000499"} is_a: MONDO:0000627 {source="DOID:6204/inferred", source="MONDO:Redundant", source="NCIT:C3502"} ! benign endocrine neoplasm -is_a: MONDO:0004972 {source="DOID:2891", source="MONDO:Redundant"} ! adenoma +is_a: MONDO:0004972 {source="DOID:2891", source="MONDO:Redundant", source="NCIT:C3502"} ! adenoma is_a: MONDO:0006107 {source="MONDO:Redundant", source="NCIT:C3502"} ! benign thyroid gland neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0005305 ! thyroid follicle @@ -94959,7 +95171,7 @@ xref: SCTID:5257006 {source="DOID:3962"} xref: UMLS:C0206682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64630"} is_a: MONDO:0004970 {source="DOID:3962", source="MESH:D018263", source="MONDO:0005034/inferred", source="MONDO:Entailed", source="NCIT:C8054/inferred"} ! adenocarcinoma is_a: MONDO:0015075 {source="DOID:3962", source="MONDO:Entailed", source="NCIT:C8054/inferred"} ! thyroid gland carcinoma -is_a: MONDO:0015447 {source="EFO:0000501", source="NCIT:C8054", source="ONCOTREE:THFO"} ! differentiated thyroid carcinoma +is_a: MONDO:0015447 {source="DOID:3962", source="EFO:0000501", source="NCIT:C8054", source="ONCOTREE:THFO"} ! differentiated thyroid carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0005305 ! thyroid follicle relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyroid gland @@ -95486,7 +95698,7 @@ xref: SCTID:197124009 {source="DOID:9778"} xref: SCTID:266525002 {source="DOID:9778"} xref: UMLS:C0022104 {source="MONDO:equivalentTo", source="MEDGEN:5897", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="DOID:9778", source="NCIT:C82343"} ! syndromic disease -is_a: MONDO:0005020 {source="EFO:0000555", source="MESH:D043183/inferred", source="NCIT:C82343/inferred"} ! intestinal disorder +is_a: MONDO:0005020 {source="DOID:9778", source="EFO:0000555", source="MESH:D043183/inferred", source="NCIT:C82343/inferred"} ! intestinal disorder [Term] id: MONDO:0005053 @@ -95594,6 +95806,7 @@ xref: SCTID:109385007 {source="MONDO:equivalentTo"} xref: SCTID:49937004 {source="DOID:8632", source="EFO:0000558"} xref: UMLS:C0036220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11321"} is_a: MONDO:0002095 {source="MESH:D012514", source="NCIT:C9087"} ! vascular cancer +is_a: MONDO:0005108 {source="DOID:8632"} ! viral infectious disease is_a: MONDO:0015157 {source="Orphanet:33276"} ! human herpesvirus 8-related tumor is_a: MONDO:0018078 {source="NCIT:C9087/inferred", source="Orphanet:33276"} ! soft tissue sarcoma is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:33276"} ! vascular neoplasm @@ -95887,6 +96100,7 @@ xref: ICDO:8512/3 {source="NCIT:C9119"} xref: MEDGEN:163568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9119 {source="EFO:0000580", source="MONDO:equivalentTo", source="DOID:5605", source="MONDO:exact-label-match"} xref: UMLS:C0860580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163568"} +is_a: MONDO:0004953 {source="NCIT:C9119"} ! invasive ductal breast carcinoma is_a: MONDO:0004988 {source="DOID:5605", source="MONDO:Redundant", source="NCIT:C9119/inferred"} ! breast adenocarcinoma is_a: MONDO:0005590 {source="NCIT:C9119"} ! breast ductal adenocarcinoma is_a: MONDO:0006256 {source="NCIT:C9119"} ! invasive breast carcinoma @@ -96209,9 +96423,9 @@ xref: ONCOTREE:THPA {source="MONDO:equivalentTo"} xref: SCTID:255029007 {source="MONDO:equivalentTo", source="EFO:0000641", source="DOID:3969"} xref: SCTID:4797003 {source="DOID:3969"} xref: UMLS:C0238463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66773"} -is_a: MONDO:0002512 {source="MONDO:Redundant", source="NCIT:C4035"} ! papillary adenocarcinoma +is_a: MONDO:0002512 {source="DOID:3969", source="MONDO:Redundant", source="NCIT:C4035"} ! papillary adenocarcinoma is_a: MONDO:0015075 {source="DOID:3969", source="NCIT:C4035/inferred"} ! thyroid gland carcinoma -is_a: MONDO:0015447 {source="EFO:0000641", source="NCIT:C4035", source="ONCOTREE:THPA"} ! differentiated thyroid carcinoma +is_a: MONDO:0015447 {source="DOID:3969", source="EFO:0000641", source="NCIT:C4035", source="ONCOTREE:THPA"} ! differentiated thyroid carcinoma intersection_of: MONDO:0002512 ! papillary adenocarcinoma intersection_of: disease_has_location UBERON:0002046 ! thyroid gland relationship: disease_has_location UBERON:0002046 {source="EFO:0000784"} ! thyroid gland @@ -96669,7 +96883,7 @@ xref: SCTID:2424003 {source="EFO:0000691"} xref: SCTID:424413001 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: SCTID:93765001 {source="DOID:1115"} xref: UMLS:C1261473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224714"} -is_a: MONDO:0004992 {source="DOID:1115", source="DOID:1115/inferred", source="EFO:0000691"} ! cancer +is_a: MONDO:0004992 {source="DOID:1115", source="DOID:1115/inferred", source="EFO:0000691", source="NCIT:C9118"} ! cancer [Term] id: MONDO:0005090 @@ -96737,7 +96951,7 @@ xref: Orphanet:140896 {source="MONDO:equivalentTo"} xref: SCTID:398447004 {source="EFO:0000694", source="MONDO:equivalentTo", source="DOID:2945"} xref: UMLS:C1175175 {source="MEDGEN:262817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005087 {source="MESH:D045169/inferred", source="MONDO:Redundant"} ! respiratory system disorder -is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease +is_a: MONDO:0020753 {source="DOID:2945", source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:227984 ! disease has primary infectious agent SARS coronavirus Tor2 relationship: disease_has_feature HP:0002315 {source="MONDO:Wikidata"} ! Headache @@ -96847,7 +97061,7 @@ xref: NCIT:C3087 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:00 xref: SCTID:134335004 {source="MONDO:equivalentTo", source="DOID:264", source="EFO:0000705"} xref: SCTID:36060005 {source="DOID:264", source="EFO:0000705"} xref: UMLS:C0018922 {source="MEDGEN:5478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002789 {source="NCIT:C3087"} ! hemangiopericytic tumor +is_a: MONDO:0002789 {source="DOID:264", source="NCIT:C3087"} ! hemangiopericytic tumor relationship: excluded_subClassOf MONDO:0002176 {source="DOID:264", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer [Term] @@ -97498,6 +97712,7 @@ xref: SCTID:783739005 {source="MONDO:equivalentTo"} xref: SCTID:84340007 {source="DOID:3328"} xref: UMLS:C0014556 {source="MEDGEN:4990", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005384 {source="DOID:3328", source="EFO:0000773", source="MESH:D004833"} ! focal epilepsy +is_a: MONDO:0017704 {source="Orphanet:98819"} ! familial partial epilepsy is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome intersection_of: MONDO:0005027 ! epilepsy intersection_of: disease_has_location UBERON:0001871 ! temporal lobe @@ -98074,7 +98289,7 @@ xref: SCTID:187510004 {source="DOID:12365"} xref: SCTID:248437004 {source="DOID:12365"} xref: SCTID:61462000 {source="EFO:0001068", source="MONDO:equivalentTo", source="DOID:12365"} xref: UMLS:C0024530 {source="MEDGEN:7443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002428 {source="DOID:12365", source="MESH:D008288"} ! protozoa infectious disease +is_a: MONDO:0002428 {source="DOID:12365", source="ICD10CM:B53", source="MESH:D008288"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:12365/inferred", source="EFO:0001068", source="MESH:D008288/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C34797", source="Orphanet:673"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: disease_has_feature HP:0001903 {source="MONDO:Wikidata"} ! Anemia @@ -98258,7 +98473,7 @@ xref: DOID:0080917 {source="MONDO:equivalentTo"} xref: EFO:0001357 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:400171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1862941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400171"} -is_a: MONDO:0004976 {source="EFO:0001357"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0080917", source="EFO:0001357"} ! amyotrophic lateral sclerosis [Term] id: MONDO:0005146 @@ -98318,6 +98533,7 @@ xref: SCTID:190362004 {source="DOID:9744"} xref: SCTID:267469001 {source="DOID:9744"} xref: SCTID:46635009 {source="DOID:9744", source="MONDO:equivalentTo", source="EFO:0001359"} xref: UMLS:C0011854 {source="MEDGEN:41522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000569 {source="DOID:9744"} ! autoimmune disorder of endocrine system is_a: MONDO:0005015 {source="DOID:9744", source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986"} ! diabetes mellitus is_a: MONDO:0007179 {source="EFO:0001359", source="MESH:D003922", source="NCIT:C2986"} ! autoimmune disease relationship: disease_arises_from_feature HP:0006476 ! Abnormality of the pancreatic islet cells @@ -98563,7 +98779,7 @@ xref: SCTID:154522004 {source="DOID:3702"} xref: SCTID:254887002 {source="MONDO:equivalentTo", source="DOID:3702", source="EFO:0001416"} xref: SCTID:269596006 {source="DOID:3702"} xref: UMLS:C0279672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79024"} -is_a: MONDO:0004970 {source="EFO:0001416", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:3702", source="EFO:0001416", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! adenocarcinoma is_a: MONDO:0005131 {source="DOID:3702", source="MONDO:0005153/inferred", source="MONDO:Redundant", source="NCIT:C4029"} ! cervical carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -99470,7 +99686,7 @@ xref: SCTID:255089009 {source="DOID:4905"} xref: SCTID:372142002 {source="MONDO:equivalentTo", source="DOID:4905", source="EFO:0002618"} xref: SCTID:93938001 {source="DOID:4905"} xref: UMLS:C0235974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65917"} -is_a: MONDO:0002116 {source="MONDO:Redundant", source="NCIT:C3850"} ! malignant exocrine pancreas neoplasm +is_a: MONDO:0002116 {source="DOID:4905", source="MONDO:Redundant", source="NCIT:C3850"} ! malignant exocrine pancreas neoplasm is_a: MONDO:0004993 {source="DOID:4905", source="EFO:0002618", source="MONDO:Redundant", source="NCIT:C3850/inferred"} ! carcinoma is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3850"} ! digestive system carcinoma intersection_of: MONDO:0004993 ! carcinoma @@ -99580,6 +99796,7 @@ xref: ONCOTREE:THYMUS {source="MONDO:equivalentTo"} xref: Orphanet:100100 {source="MONDO:equivalentTo"} xref: SCTID:127231009 {source="MONDO:equivalentTo"} xref: UMLS:C3714644 {source="MEDGEN:811424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003393 {source="NCIT:C3412"} ! thymus gland disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002370 ! thymus relationship: disease_has_location UBERON:0002370 {source="EFO:0000784"} ! thymus @@ -99895,6 +100112,7 @@ xref: NCIT:C40025 {source="DOID:5744"} xref: NCIT:C7550 {source="EFO:0002917", source="DOID:5744", source="MONDO:equivalentTo"} xref: ONCOTREE:SOC {source="MONDO:equivalentTo"} xref: UMLS:C1335177 {source="MONDO:equivalentTo", source="MEDGEN:233278", source="MONDO:MEDGEN"} +is_a: MONDO:0002752 {source="DOID:5744", source="NCIT:C7550"} ! ovarian adenocarcinoma is_a: MONDO:0005278 {source="DOID:5744", source="EFO:0002917", source="MONDO:Redundant", source="NCIT:C7550"} ! serous adenocarcinoma is_a: MONDO:0024885 {source="NCIT:C7550"} ! malignant ovarian serous tumor intersection_of: MONDO:0005278 ! serous adenocarcinoma @@ -100169,6 +100387,7 @@ xref: NCIT:C7355 {source="DOID:5974", source="MONDO:equivalentTo", source="EFO:0 xref: SCTID:408642003 {source="MONDO:equivalentTo", source="EFO:0003017"} xref: UMLS:C4087468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648131"} is_a: MONDO:0005519 {source="DOID:5974", source="MONDO:Redundant", source="NCIT:C7355"} ! renal pelvis carcinoma +is_a: MONDO:0020654 {source="NCIT:C7355"} ! renal pelvis/ureter urothelial carcinoma intersection_of: MONDO:0006474 ! transitional cell carcinoma intersection_of: disease_has_location UBERON:0001224 ! renal pelvis @@ -100233,7 +100452,7 @@ xref: NCIT:C8460 {source="EFO:0003026", source="MONDO:equivalentTo"} xref: ONCOTREE:AMLMD {source="MONDO:equivalentTo"} xref: Orphanet:98832 {source="MONDO:equivalentTo"} xref: UMLS:C0522631 {source="MEDGEN:101100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015667 {source="Orphanet:98832"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C8460", source="Orphanet:98832"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003026", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -100300,7 +100519,7 @@ xref: Orphanet:98833 {source="MONDO:equivalentTo"} xref: SCTID:103690005 {source="EFO:0003027"} xref: SCTID:359640008 {source="MONDO:equivalentTo"} xref: UMLS:C0026998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10232"} -is_a: MONDO:0015667 {source="NCIT:C3249"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C3249", source="Orphanet:98833"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003027", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation" xsd:anyURI {source="GARD:0000526"} @@ -100360,7 +100579,7 @@ xref: NCIT:C102993 {source="EFO:0003033", source="MONDO:otherHierarchy"} xref: SCTID:5758002 {source="EFO:0003033", source="MONDO:equivalentTo"} xref: UMLS:C0004610 {source="MEDGEN:482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Wikipedia:Bacteremia {source="EFO:0003033"} -is_a: MONDO:0005113 {source="EFO:0003033", source="MESH:D016470", source="MONDO:Redundant"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:0040085", source="EFO:0003033", source="MESH:D016470", source="MONDO:Redundant"} ! bacterial infectious disease is_a: MONDO:1040015 {source="PMID:26903338"} ! infectious disease with sepsis intersection_of: MONDO:0005113 ! bacterial infectious disease intersection_of: disease_has_feature HP:0100806 ! Sepsis @@ -101185,6 +101404,7 @@ xref: NCIT:C84476 {source="EFO:0003781", source="MONDO:equivalentTo", source="DO xref: SCTID:300920004 {source="EFO:0003781"} xref: SCTID:371160000 {source="MONDO:equivalentTo", source="DOID:3407"} xref: UMLS:C0007273 {source="MEDGEN:2892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000473 {source="DOID:3407"} ! arterial disorder is_a: MONDO:0011057 {source="DOID:3407", source="MESH:D002340"} ! cerebrovascular disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0005396 ! carotid artery segment @@ -101390,6 +101610,7 @@ xref: SCTID:75879005 {source="EFO:0003821"} xref: SCTID:95653008 {source="EFO:0003821"} xref: UMLS:C0149931 {source="MEDGEN:57451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002602 {source="ISBN-13:978-1-259-64403-0"} ! central nervous system disorder +is_a: MONDO:0005560 {source="DOID:6364"} ! brain disorder is_a: MONDO:0017181 {source="MESH:D008881"} ! hypnic headache is_a: MONDO:0043218 {source="NCIT:C89715"} ! neurovascular disorder relationship: disease_has_feature HP:0002013 {source="MONDO:Wikidata"} ! Vomiting @@ -101952,7 +102173,7 @@ xref: SCTID:389100007 {source="EFO:0003883", source="MONDO:equivalentTo", source xref: UMLS:C0917798 {source="MEDGEN:182975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005053 {source="DOID:2316", source="EFO:0003883", source="MONDO:Entailed", source="MONDO:Redundant"} ! ischemic disease is_a: MONDO:0005560 {source="DOID:2316", source="MESH:D002545/inferred", source="MONDO:Redundant"} ! brain disorder -is_a: MONDO:0011057 {source="MESH:D002545", source="NCIT:C78394"} ! cerebrovascular disorder +is_a: MONDO:0011057 {source="DOID:2316", source="MESH:D002545", source="NCIT:C78394"} ! cerebrovascular disorder intersection_of: MONDO:0005053 ! ischemic disease intersection_of: disease_has_location UBERON:0000955 ! brain relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain @@ -102020,6 +102241,7 @@ xref: SCTID:192928003 {source="DOID:2377"} xref: SCTID:192930001 {source="DOID:2377"} xref: SCTID:24700007 {source="EFO:0003885", source="DOID:2377", source="MONDO:equivalentTo"} xref: UMLS:C0026769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10123"} +is_a: MONDO:0000568 {source="DOID:2377"} ! autoimmune disorder of central nervous system is_a: MONDO:0002562 {source="DOID:2377", source="ICD10CM:G35", source="MESH:D009103/inferred"} ! demyelinating disease is_a: MONDO:0002977 {source="MESH:D009103/inferred", source="MONDO:Redundant", source="NCIT:C3243"} ! autoimmune disorder of the nervous system is_a: MONDO:0005560 {source="MESH:D009103/inferred", source="MONDO:Redundant"} ! brain disorder @@ -102108,6 +102330,7 @@ xref: SCTID:126853008 {source="MONDO:equivalentTo"} xref: SCTID:126855001 {source="DOID:0050625"} xref: UMLS:C0005426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14118"} is_a: MONDO:0002514 {source="DOID:0050625", source="MONDO:Redundant", source="MONDO:indirect"} ! hepatobiliary neoplasm +is_a: MONDO:0004868 {source="DOID:0050625"} ! biliary tract disorder is_a: MONDO:0005154 {source="EFO:0003891/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! liver disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001173 ! biliary tree @@ -103582,7 +103805,7 @@ xref: SCTID:414794006 {source="DOID:4960"} xref: SCTID:414824005 {source="MONDO:equivalentTo"} xref: SCTID:425333006 {source="DOID:4960", source="EFO:0004251"} xref: UMLS:C0282609 {source="MEDGEN:129203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002334 {source="DOID:4960/inferred", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! hematopoietic and lymphoid system neoplasm +is_a: MONDO:0002334 {source="DOID:4960", source="DOID:4960/inferred", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0003225 {source="DOID:4960", source="MESH:D019046", source="MONDO:Redundant", source="NCIT:C35370"} ! bone marrow disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002371 ! bone marrow @@ -103787,7 +104010,7 @@ xref: SCTID:43453000 {source="DOID:10159"} xref: SCTID:62100001 {source="DOID:10159"} xref: SCTID:83453001 {source="DOID:10159"} xref: UMLS:C0029445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45249"} -is_a: MONDO:0005381 {source="MONDO:Redundant", source="Orphanet:399158"} ! bone disorder +is_a: MONDO:0005381 {source="DOID:0080008", source="MONDO:Redundant", source="Orphanet:399158"} ! bone disorder relationship: disease_has_basis_in_disruption_of GO:0008015 ! blood circulation relationship: disease_has_location UBERON:0002481 ! bone tissue relationship: excluded_subClassOf MONDO:0015940 {source="Orphanet:399158", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare rheumatologic disease @@ -104345,7 +104568,7 @@ xref: SCTID:32280000 {source="EFO:0004289"} xref: SCTID:33560006 {source="DOID:10747"} xref: SCTID:95274002 {source="DOID:10747"} xref: UMLS:C0023448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9728"} -is_a: MONDO:0005059 {source="DOID:10747/inferred", source="EFO:0004289", source="MESH:D007945", source="MONDO:Redundant", source="NCIT:C7539"} ! leukemia +is_a: MONDO:0005059 {source="DOID:1037", source="DOID:10747/inferred", source="EFO:0004289", source="MESH:D007945", source="MONDO:Redundant", source="NCIT:C7539"} ! leukemia is_a: MONDO:0005157 {source="EFO:0004289/inferred", source="MONDO:Redundant", source="NCIT:C7539"} ! lymphoid neoplasm relationship: disease_arises_from_structure CL:0000542 ! lymphocyte property_value: IAO:0000589 "lymphoid leukemia (disease)" xsd:string @@ -104953,6 +105176,7 @@ xref: SCTID:31654005 {source="DOID:13810"} xref: SCTID:389985001 {source="DOID:13810"} xref: SCTID:398036000 {source="DOID:13810", source="EFO:0004911"} xref: UMLS:C0020445 {source="MONDO:equivalentTo", source="MEDGEN:5688", source="MONDO:MEDGEN"} +is_a: MONDO:0001336 {source="DOID:13810"} ! familial hyperlipidemia is_a: MONDO:0037748 {source="NCIT:C34704"} ! hyperlipoproteinemia intersection_of: MONDO:0001336 ! familial hyperlipidemia intersection_of: disease_has_feature HP:0003124 ! Hypercholesterolemia @@ -106831,6 +107055,7 @@ xref: SCTID:93985007 {source="DOID:4919"} xref: UMLS:C1335749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235548"} is_a: MONDO:0003719 {source="MONDO:Entailed", source="NCIT:C6142/inferred"} ! renal pelvis neoplasm is_a: MONDO:0005206 {source="MONDO:Redundant", source="NCIT:C6142"} ! renal carcinoma +is_a: MONDO:0044919 {source="NCIT:C6142"} ! malignant renal pelvis neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001224 ! renal pelvis relationship: disease_has_location UBERON:0002113 {source="EFO:0000784"} ! kidney @@ -107317,7 +107542,7 @@ xref: Orphanet:563576 {source="MONDO:equivalentTo"} xref: SCTID:197284004 {source="MONDO:equivalentTo"} xref: SCTID:721711009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C4303164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928833"} -is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis +is_a: MONDO:0016264 {source="Orphanet:563576", source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis [Term] id: MONDO:0005544 @@ -107377,7 +107602,7 @@ xref: SCTID:247365004 {source="DOID:631"} xref: SCTID:268107007 {source="DOID:631"} xref: SCTID:56557000 {source="DOID:631"} xref: UMLS:C0016053 {source="MEDGEN:42018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C87497"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:631", source="NCIT:C87497"} ! syndromic disease is_a: MONDO:0024317 {source="https://orcid.org/0000-0002-6601-2165"} ! chronic pain syndrome is_a: MONDO:0700007 {source="NCIT:C87497"} ! idiopathic disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -107670,7 +107895,7 @@ xref: NCIT:C4802 {source="EFO:0005772", source="MONDO:equivalentTo"} xref: SCTID:362975008 {source="EFO:0005772", source="DOID:1289"} xref: SCTID:80690008 {source="MONDO:equivalentTo"} xref: UMLS:C0027746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:17999"} -is_a: MONDO:0002602 {source="https://github.com/monarch-initiative/mondo/issues/528", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder +is_a: MONDO:0002602 {source="DOID:1289", source="https://github.com/monarch-initiative/mondo/issues/528", source="https://orcid.org/0000-0001-5208-3432"} ! central nervous system disorder relationship: disease_has_major_feature HP:0007313 ! Cerebral degeneration [Term] @@ -108595,7 +108820,7 @@ xref: NCIT:C5243 {source="MONDO:equivalentTo", source="EFO:0006462", source="DOI xref: Orphanet:398961 {source="MONDO:equivalentTo"} xref: UMLS:C1335167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235418"} is_a: MONDO:0002752 {source="DOID:3606", source="MONDO:Redundant", source="NCIT:C5243"} ! ovarian adenocarcinoma -is_a: MONDO:0004957 {source="EFO:0006462", source="MONDO:Redundant", source="NCIT:C5243"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:3606", source="EFO:0006462", source="MONDO:Redundant", source="NCIT:C5243"} ! mucinous adenocarcinoma is_a: MONDO:0018364 {source="DOID:3606/inferred", source="MONDO:0005601/inferred", source="MONDO:Redundant", source="NCIT:C5243/inferred", source="Orphanet:398961"} ! malignant epithelial tumor of ovary is_a: MONDO:0024282 {source="NCIT:C5243"} ! mucinous ovarian cancer intersection_of: MONDO:0004957 ! mucinous adenocarcinoma @@ -108802,6 +109027,7 @@ xref: SCTID:393562002 {source="DOID:4006"} xref: UMLS:C0279680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:76013"} is_a: MONDO:0004986 {source="DOID:4006", source="EFO:0006544", source="MONDO:Redundant", source="NCIT:C39851"} ! urinary bladder carcinoma is_a: MONDO:0006474 {source="DOID:4006", source="MONDO:0005611/inferred", source="MONDO:Entailed", source="NCIT:C39851/inferred"} ! transitional cell carcinoma +is_a: MONDO:0040679 {source="NCIT:C39851"} ! urothelial carcinoma intersection_of: MONDO:0006474 ! transitional cell carcinoma intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -109200,7 +109426,7 @@ xref: NCIT:C4013 {source="MONDO:equivalentTo", source="EFO:0006859"} xref: SCTID:255055008 {source="DOID:11934"} xref: SCTID:255056009 {source="EFO:0006859"} xref: UMLS:C0278996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78920"} -is_a: MONDO:0004992 {source="DOID:11934", source="DOID:11934/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:11934", source="DOID:11934/inferred", source="MONDO:Redundant", source="NCIT:C4013"} ! cancer is_a: MONDO:0005586 {source="EFO:0006859", source="MONDO:Redundant", source="NCIT:C4013"} ! head and neck neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0007811 ! craniocervical region @@ -109262,6 +109488,7 @@ xref: SCTID:231896005 {source="MONDO:equivalentTo"} xref: UMLS:C0000880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1268"} is_a: MONDO:0002428 {source="MESH:D015823/inferred", source="NCIT:C50450"} ! protozoa infectious disease is_a: MONDO:0005135 {source="EFO:0007126", source="MESH:D015823/inferred", source="MONDO:Redundant", source="NCIT:C50450/inferred", source="Orphanet:67043"} ! parasitic infectious disease +is_a: MONDO:0023865 {source="Orphanet:67043"} ! corneal infection intersection_of: MONDO:0003085 ! keratitis intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:5754 ! Acanthamoeba @@ -110655,7 +110882,7 @@ xref: MESH:D002169 {source="EFO:0007190", source="MONDO:equivalentTo", source="D xref: SCTID:86500004 {source="MONDO:equivalentTo", source="DOID:13622"} xref: UMLS:C0006818 {source="MEDGEN:14296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000314 {source="DOID:13622"} ! primary bacterial infectious disease -is_a: MONDO:0002269 {source="https://orcid.org/0000-0002-5316-1399"} ! gastroenteritis +is_a: MONDO:0002269 {source="DOID:13622", source="https://orcid.org/0000-0002-5316-1399"} ! gastroenteritis is_a: MONDO:0005113 {source="DOID:13622/inferred", source="EFO:0007190", source="MESH:D002169/inferred", source="MONDO:Redundant"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:194 ! Campylobacter @@ -110836,7 +111063,7 @@ xref: MESH:D002430 {source="MONDO:equivalentTo", source="EFO:0007197", source="D xref: NCIT:C4433 {source="MONDO:equivalentTo", source="DOID:1517"} xref: SCTID:126839008 {source="MONDO:equivalentTo", source="DOID:1517"} xref: UMLS:C0007528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:2922"} -is_a: MONDO:0002031 {source="MESH:D002430", source="MONDO:Redundant"} ! cecal disorder +is_a: MONDO:0002031 {source="DOID:1517", source="MESH:D002430", source="MONDO:Redundant"} ! cecal disorder is_a: MONDO:0005401 {source="EFO:0007197/inferred", source="MONDO:Redundant", source="NCIT:C4433"} ! colonic neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001153 ! caecum @@ -112786,7 +113013,7 @@ xref: NORD:1180 {source="MONDO:NORD"} xref: Orphanet:221117 {source="MONDO:equivalentTo", source="DOID:4969"} xref: SCTID:36785009 {source="MONDO:equivalentTo", source="DOID:4969"} xref: UMLS:C0017494 {source="MEDGEN:42208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005071 {source="Orphanet:221117"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:4969", source="Orphanet:221117"} ! nervous system disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome" xsd:anyURI {source="GARD:0008660"} @@ -113023,6 +113250,7 @@ xref: NCIT:C84753 {source="MONDO:equivalentTo", source="DOID:11266"} xref: SCTID:102455002 {source="MONDO:equivalentTo", source="DOID:11266"} xref: SCTID:186701001 {source="DOID:11266"} xref: SCTID:70826003 {source="DOID:11266"} +is_a: MONDO:0005240 {source="DOID:11266"} ! kidney disorder intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0002113 ! kidney intersection_of: MONDO:0100332 NCBITaxon:1980442 ! disease has primary infectious agent Orthohantavirus @@ -113557,6 +113785,7 @@ xref: SCTID:93831006 {source="DOID:8533"} xref: SCTID:93968005 {source="DOID:8533"} xref: UMLS:C0153398 {source="MEDGEN:102266", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005517 {source="DOID:8533", source="EFO:0007321", source="MESH:D007012", source="MONDO:Redundant", source="NCIT:C7190"} ! pharynx cancer +is_a: MONDO:0021358 {source="NCIT:C7190"} ! neoplasm of hypopharynx intersection_of: MONDO:0005517 ! pharynx cancer intersection_of: disease_has_location UBERON:0001051 ! hypopharynx @@ -113654,7 +113883,7 @@ xref: SCTID:26851006 {source="DOID:8568"} xref: SCTID:271558008 {source="DOID:8568"} xref: SCTID:314131007 {source="DOID:8568"} xref: UMLS:C0021345 {source="MEDGEN:7069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005111 {source="MESH:D007244", source="MONDO:Redundant", source="NCIT:C34726"} ! Epstein-Barr virus infection +is_a: MONDO:0005111 {source="DOID:8568", source="MESH:D007244", source="MONDO:Redundant", source="NCIT:C34726"} ! Epstein-Barr virus infection relationship: disease_has_feature HP:0001744 ! Splenomegaly relationship: disease_has_feature HP:0002716 ! Lymphadenopathy relationship: disease_has_infectious_agent NCBITaxon:10376 {source="MONDO:Wikidata"} ! human gammaherpesvirus 4 @@ -113841,7 +114070,7 @@ xref: SCTID:399528006 {source="DOID:1799"} xref: SCTID:76345009 {source="DOID:1799"} is_a: MONDO:0001933 {source="DOID:1799", source="MONDO:Redundant", source="NCIT:C27031"} ! endocrine pancreas disorder is_a: MONDO:0021040 {source="EFO:0007331", source="MONDO:0018520-obsoleted", source="MONDO:Entailed", source="NCIT:C27031"} ! pancreatic neoplasm -is_a: MONDO:0024503 {source="Orphanet:506052"} ! digestive system neuroendocrine neoplasm +is_a: MONDO:0024503 {source="NCIT:C27031", source="Orphanet:506052"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas @@ -114945,7 +115174,7 @@ xref: NCIT:C3729 {source="MONDO:equivalentTo", source="EFO:1000356"} xref: SCTID:189802003 {source="DOID:154"} xref: SCTID:8145008 {source="DOID:154"} xref: UMLS:C0206625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:64618"} -is_a: MONDO:0004992 {source="DOID:154", source="DOID:154/inferred", source="EFO:0007373/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! cancer +is_a: MONDO:0004992 {source="DOID:154", source="DOID:154/inferred", source="EFO:0007373/inferred", source="MONDO:Redundant", source="NCIT:C3729", source="https://orcid.org/0000-0002-6601-2165"} ! cancer is_a: MONDO:0021043 {source="MESH:D018198", source="MONDO:Redundant", source="NCIT:C3729"} ! mixed neoplasm intersection_of: MONDO:0021043 ! mixed neoplasm intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -115359,7 +115588,7 @@ xref: NCIT:C4788 {source="MONDO:equivalentTo"} xref: SCTID:188306000 {source="DOID:3093"} xref: SCTID:372063002 {source="MONDO:equivalentTo"} xref: UMLS:C0497549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99231"} -is_a: MONDO:0004992 {source="DOID:3093", source="DOID:3093/inferred", source="EFO:0007392/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0004992 {source="DOID:3093", source="DOID:3093/inferred", source="EFO:0007392/inferred", source="MONDO:Redundant", source="NCIT:C4788"} ! cancer is_a: MONDO:0005071 {source="DOID:3093", source="MESH:D009423", source="MONDO:Redundant", source="NCIT:C4788/inferred"} ! nervous system disorder is_a: MONDO:0021248 {source="MONDO:Redundant", source="NCIT:C4788"} ! nervous system neoplasm intersection_of: MONDO:0004992 ! cancer @@ -115649,6 +115878,7 @@ xref: MESH:D014393 {source="DOID:402", source="EFO:0007407", source="MONDO:equiv xref: SCTID:235067001 {source="DOID:402", source="MONDO:equivalentTo"} xref: UMLS:C0041323 {source="MEDGEN:52888", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005768 {source="DOID:402", source="EFO:0007407"} ! gastrointestinal tuberculosis +is_a: MONDO:0006858 {source="DOID:402"} ! mouth disorder intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_inflammation_site UBERON:0000165 ! mouth @@ -116849,6 +117079,7 @@ xref: SCTID:363420003 {source="DOID:5875"} xref: SCTID:94092006 {source="DOID:5875"} xref: UMLS:C0153465 {source="MEDGEN:57559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004992 {source="DOID:5875", source="DOID:5875/inferred", source="EFO:0007466/inferred", source="MONDO:Redundant"} ! cancer +is_a: MONDO:0024645 {source="NCIT:C3537"} ! retroperitoneal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space @@ -117377,6 +117608,7 @@ xref: UMLS:C0153470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000612 {source="DOID:672", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymphatic system cancer is_a: MONDO:0002332 {source="DOID:672", source="MESH:D013160", source="MONDO:Entailed", source="NCIT:C3539/inferred"} ! splenic disorder is_a: MONDO:0002516 {source="ICD10CM:C26.1/inferred", source="MONDO:Redundant"} ! digestive system cancer +is_a: MONDO:0036696 {source="NCIT:C3539"} ! spleen neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -117393,6 +117625,8 @@ xref: MEDGEN:11949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014400 {source="DOID:9305", source="MONDO:equivalentTo", source="EFO:0007492"} xref: SCTID:28399005 {source="DOID:9305", source="MONDO:equivalentTo"} xref: UMLS:C0041331 {source="MEDGEN:11949", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000369 {source="DOID:9305"} ! abdominal tuberculosis +is_a: MONDO:0002332 {source="DOID:9305"} ! splenic disorder intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -119472,6 +119706,8 @@ xref: EFO:1000050 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1691847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C159209 {source="MONDO:equivalentTo"} xref: UMLS:C5204259 {source="MEDGEN:1691847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0001572 {source="NCIT:C159209"} ! leiomyoma +is_a: MONDO:0002513 {source="NCIT:C159209"} ! kidney benign neoplasm is_a: MONDO:0005070 {source="EFO:1000050", source="MONDO:indirect"} ! neoplasm intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0002113 ! kidney @@ -119552,7 +119788,7 @@ xref: SCTID:253028001 {source="DOID:192"} xref: SCTID:71440001 {source="EFO:1000052", source="DOID:192"} xref: UMLS:C0206724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104926"} is_a: MONDO:0005070 {source="DOID:192/inferred", source="EFO:0007483/inferred", source="EFO:1000052/inferred", source="MONDO:Redundant", source="NCIT:C3794/inferred"} ! neoplasm -is_a: MONDO:0006054 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794/inferred"} ! reproductive system neoplasm +is_a: MONDO:0006054 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794", source="NCIT:C3794/inferred"} ! reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0005295 ! sex cord @@ -119702,6 +119938,7 @@ xref: EFO:1000064 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1835068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39882 {source="EFO:1000064", source="MONDO:equivalentTo"} xref: UMLS:C5787290 {source="MEDGEN:1835068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002493 {source="NCIT:C39882"} ! prostatic acinar adenocarcinoma is_a: MONDO:0004965 {source="EFO:1000064", source="MONDO:0006066/inferred", source="NCIT:C39882/inferred"} ! acinar cell carcinoma is_a: MONDO:0005082 {source="EFO:1000064", source="MONDO:0006066/inferred", source="NCIT:C39882/inferred"} ! prostate adenocarcinoma @@ -119724,6 +119961,7 @@ xref: EFO:1000065 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5537 {source="EFO:1000065", source="MONDO:equivalentTo", source="DOID:3703"} xref: UMLS:C1335513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277536"} +is_a: MONDO:0002493 {source="NCIT:C5537"} ! prostatic acinar adenocarcinoma is_a: MONDO:0004957 {source="EFO:1000065", source="NCIT:C5537"} ! mucinous adenocarcinoma is_a: MONDO:0004965 {source="EFO:1000065", source="MONDO:Entailed", source="NCIT:C5537/inferred"} ! acinar cell carcinoma is_a: MONDO:0005082 {source="DOID:3703", source="EFO:1000065", source="NCIT:C5537/inferred"} ! prostate adenocarcinoma @@ -119859,6 +120097,7 @@ xref: MEDGEN:233657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5964 {source="EFO:1000067", source="MONDO:equivalentTo", source="DOID:6276"} xref: UMLS:C1334556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:233657"} is_a: MONDO:0004970 {source="EFO:1000067", source="MONDO:0006069/inferred", source="NCIT:C5964/inferred"} ! adenocarcinoma +is_a: MONDO:0017582 {source="NCIT:C5964"} ! pituitary adenocarcinoma intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000007 ! pituitary gland intersection_of: realized_in GO:0051458 ! corticotropin secretion @@ -120904,6 +121143,7 @@ xref: HP:0009729 {source="MONDO:otherHierarchy"} xref: MEDGEN:232027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6739 {source="EFO:1000150", source="MONDO:equivalentTo"} xref: UMLS:C1332852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232027"} +is_a: MONDO:0036688 {source="NCIT:C6739"} ! rhabdomyoma intersection_of: MONDO:0036688 ! rhabdomyoma intersection_of: disease_has_location UBERON:0000948 ! heart property_value: IAO:0000589 "cardiac rhabdomyoma (disease)" xsd:string @@ -121347,7 +121587,7 @@ xref: Orphanet:213767 {source="MONDO:equivalentTo"} xref: SCTID:254886006 {source="DOID:3744", source="MONDO:equivalentTo"} xref: UMLS:C0279671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124644"} is_a: MONDO:0002974 {source="Orphanet:213767"} ! cervical cancer -is_a: MONDO:0005096 {source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:3744", source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! squamous cell carcinoma is_a: MONDO:0005131 {source="DOID:3744", source="EFO:1000172", source="MONDO:Redundant", source="NCIT:C4028"} ! cervical carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -121555,6 +121795,7 @@ xref: UMLS:C1333084 {source="MONDO:equivalentTo", source="MEDGEN:234158", source is_a: MONDO:0002882 {source="MONDO:0006155/inferred", source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! colon neuroendocrine neoplasm is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! colonic neoplasm is_a: MONDO:0006162 {source="MONDO:Redundant", source="NCIT:C5497"} ! colorectal neuroendocrine tumor G1 +is_a: MONDO:0015067 {source="NCIT:C5497"} ! neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5497/inferred"} ! intestinal neuroendocrine tumor G1 intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0001155 ! colon @@ -121705,6 +121946,7 @@ xref: MEDGEN:474244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C96160 {source="EFO:1000195", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C3272611 {source="MONDO:equivalentTo", source="MEDGEN:474244", source="MONDO:MEDGEN"} is_a: MONDO:0005335 {source="EFO:1000195", source="MONDO:Redundant", source="NCIT:C96160/inferred"} ! colorectal neoplasm +is_a: MONDO:0021533 {source="NCIT:C96160"} ! intestinal neuroendocrine tumor G1 intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0012652 ! colorectum intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system @@ -121760,6 +122002,7 @@ xref: UMLS:C1707442 {source="MONDO:equivalentTo", source="MEDGEN:317527", source is_a: MONDO:0005096 {source="EFO:1000198", source="MONDO:Redundant", source="NCIT:C43588"} ! squamous cell carcinoma is_a: MONDO:0005575 {source="MONDO:Redundant", source="NCIT:C43588", source="NCIT:C43588/inferred"} ! colorectal cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C43588/inferred"} ! digestive system carcinoma +is_a: MONDO:0024331 {source="NCIT:C43588"} ! colorectal carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0012652 ! colorectum @@ -121835,7 +122078,7 @@ xref: ICD10CM:H10-H11 {source="https://github.com/monarch-initiative/mondo/issue xref: MEDGEN:3207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27605 {source="MONDO:equivalentTo", source="EFO:1000203"} xref: UMLS:C0009759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3207"} -is_a: MONDO:0005328 {source="EFO:1000203", source="NCIT:C27605"} ! eye disorder +is_a: MONDO:0005328 {source="DOID:4251", source="EFO:1000203", source="NCIT:C27605"} ! eye disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_location UBERON:0001811 ! conjunctiva @@ -121864,6 +122107,7 @@ xref: SCTID:255006004 {source="MONDO:equivalentTo"} xref: UMLS:C0346363 {source="MEDGEN:83422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000633 {source="DOID:0050906", source="MONDO:Redundant", source="MONDO:indirect"} ! sensory organ benign neoplasm is_a: MONDO:0005073 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551"} ! melanocytic nevus +is_a: MONDO:0006105 {source="NCIT:C4551"} ! benign conjunctival neoplasm is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C4551"} ! conjunctival tumor [Term] @@ -121985,7 +122229,7 @@ xref: EFO:1000217 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:184920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36207 {source="DOID:4147", source="MONDO:equivalentTo", source="EFO:1000217"} xref: UMLS:C0948101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:184920"} -is_a: MONDO:0004972 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! adenoma +is_a: MONDO:0004972 {source="DOID:4147", source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! adenoma is_a: MONDO:0021223 {source="EFO:1000217", source="MONDO:Redundant", source="NCIT:C36207"} ! digestive system neoplasm intersection_of: MONDO:0004972 {source="NCIT:C36207"} ! adenoma intersection_of: disease_has_location UBERON:0001555 {source="NCIT:C36207"} ! digestive tract @@ -122010,7 +122254,7 @@ xref: MEDGEN:57467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C96963 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000218"} xref: UMLS:C0151544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57467"} is_a: MONDO:0002516 {source="DOID:0050922", source="MONDO:Redundant", source="NCIT:C96963"} ! digestive system cancer -is_a: MONDO:0004993 {source="EFO:1000218", source="MONDO:Redundant", source="NCIT:C96963"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:0050922", source="EFO:1000218", source="MONDO:Redundant", source="NCIT:C96963"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001007 ! digestive system @@ -122059,7 +122303,7 @@ xref: Orphanet:71274 {source="MONDO:equivalentTo"} xref: SCTID:62557001 {source="MONDO:equivalentTo", source="DOID:5728"} xref: SCTID:703634007 {source="DOID:5728"} xref: UMLS:C0267785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78634"} -is_a: MONDO:0000650 {source="NCIT:C3958"} ! peritoneal benign neoplasm +is_a: MONDO:0000650 {source="DOID:5728", source="NCIT:C3958"} ! peritoneal benign neoplasm is_a: MONDO:0003295 {source="DOID:5728", source="NCIT:C3958"} ! leiomyomatosis relationship: has_characteristic MONDO:0022202 ! disseminated @@ -122413,7 +122657,7 @@ xref: EFO:1000244 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35780 {source="MONDO:equivalentTo", source="EFO:1000244", source="DOID:7040"} xref: UMLS:C1333422 {source="MEDGEN:234223", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002973 {source="MONDO:Redundant", source="NCIT:C35780"} ! epithelioid cell melanoma +is_a: MONDO:0002973 {source="DOID:7040", source="MONDO:Redundant", source="NCIT:C35780"} ! epithelioid cell melanoma is_a: MONDO:0005105 {source="DOID:7040/inferred", source="EFO:1000244", source="MONDO:Redundant", source="NCIT:C35780/inferred"} ! melanoma is_a: MONDO:0006486 {source="DOID:7040", source="MONDO:Redundant", source="NCIT:C35780"} ! uveal melanoma intersection_of: MONDO:0002973 ! epithelioid cell melanoma @@ -122434,6 +122678,7 @@ xref: MEDGEN:232471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6238 {source="MONDO:equivalentTo", source="DOID:2764", source="EFO:1000246"} xref: UMLS:C1333473 {source="MEDGEN:232471", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001763 {source="DOID:2764", source="MONDO:Redundant", source="NCIT:C6238"} ! ethmoid sinus cancer +is_a: MONDO:0006352 {source="NCIT:C6238"} ! paranasal sinus adenoid cystic carcinoma intersection_of: MONDO:0004971 ! adenoid cystic carcinoma intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus @@ -122680,6 +122925,7 @@ xref: UMLS:C0280310 {source="MEDGEN:124718", source="MONDO:equivalentTo", source is_a: MONDO:0003036 {source="MONDO:Entailed", source="NCIT:C8178/inferred"} ! mucoepidermoid carcinoma is_a: MONDO:0005515 {source="EFO:1000260", source="NCIT:C8178/inferred"} ! oral cavity cancer is_a: MONDO:0021343 {source="MONDO:Redundant", source="NCIT:C8178"} ! carcinoma of floor of mouth +is_a: MONDO:0044964 {source="NCIT:C8178"} ! oral cavity mucoepidermoid carcinoma intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma intersection_of: disease_has_location UBERON:0003679 ! mouth floor @@ -122963,6 +123209,7 @@ xref: NCIT:C5266 {source="EFO:1000274", source="MONDO:equivalentTo", source="MON xref: UMLS:C1333782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232547"} is_a: MONDO:0005062 {source="EFO:1000274", source="MONDO:Redundant", source="NCIT:C5266/inferred"} ! lymphoma is_a: MONDO:0007650 {source="MONDO:Redundant", source="NCIT:C5266"} ! MALT lymphoma +is_a: MONDO:0042493 {source="NCIT:C5266"} ! gastric non-hodgkin lymphoma intersection_of: MONDO:0007650 ! MALT lymphoma intersection_of: disease_has_location UBERON:0000945 ! stomach relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyte of B lineage @@ -123163,6 +123410,7 @@ xref: SCTID:128640002 {source="DOID:8634"} xref: SCTID:92691004 {source="DOID:8634", source="MONDO:equivalentTo"} xref: UMLS:C5200982 {source="MEDGEN:1684800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004647 {source="DOID:8634", source="MONDO:Redundant"} ! in situ carcinoma +is_a: MONDO:0005159 {source="NCIT:C3642"} ! prostate carcinoma is_a: MONDO:0005193 {source="EFO:1000283", source="NCIT:C3642/inferred"} ! prostate intraepithelial neoplasia is_a: MONDO:0008315 {source="NCIT:C3642"} ! prostate cancer intersection_of: MONDO:0004647 ! in situ carcinoma @@ -123615,6 +123863,7 @@ xref: ONCOTREE:BRCA {source="MONDO:equivalentTo"} xref: SCTID:713609000 {source="MONDO:equivalentTo"} xref: UMLS:C0853879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163435"} is_a: MONDO:0004989 {source="EFO:1000307", source="MONDO:Redundant", source="NCIT:C9245"} ! breast carcinoma +is_a: MONDO:0040677 {source="NCIT:C9245"} ! invasive carcinoma intersection_of: MONDO:0004989 ! breast carcinoma intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive @@ -123649,6 +123898,7 @@ is_a: MONDO:0000540 {source="MONDO:Redundant", source="NCIT:C6429"} ! small inte is_a: MONDO:0002564 {source="NCIT:C6429/inferred"} ! jejunal neoplasm is_a: MONDO:0005369 {source="EFO:1000308", source="MONDO:Redundant", source="NCIT:C6429/inferred"} ! carcinoid tumor is_a: MONDO:0005401 {source="EFO:1000308", source="MONDO:Redundant"} ! colonic neoplasm +is_a: MONDO:0015064 {source="NCIT:C6429"} ! jejunal neuroendocrine tumor, well differentiated, low or intermediate grade is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C6429/inferred"} ! intestinal neuroendocrine tumor G1 intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002115 ! jejunum @@ -123701,7 +123951,7 @@ xref: NORD:1999 {source="MONDO:NORD"} xref: ONCOTREE:MRC {source="MONDO:equivalentTo"} xref: Orphanet:319319 {source="MONDO:equivalentTo"} xref: UMLS:C4049328 {source="MONDO:equivalentTo", source="MEDGEN:888108", source="MONDO:MEDGEN"} -is_a: MONDO:0005086 {source="ONCOTREE:MRC/inferred", source="Orphanet:319319"} ! renal cell carcinoma +is_a: MONDO:0005086 {source="DOID:0070475", source="ONCOTREE:MRC/inferred", source="Orphanet:319319"} ! renal cell carcinoma is_a: MONDO:0005206 {source="EFO:1000314", source="NCIT:C7572"} ! renal carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0000362 ! renal medulla @@ -123801,7 +124051,7 @@ xref: NCIT:C3188 {source="DOID:2696", source="MONDO:equivalentTo", source="EFO:1 xref: SCTID:189739005 {source="DOID:2696"} xref: SCTID:45002009 {source="DOID:2696"} xref: UMLS:C0023601 {source="MONDO:equivalentTo", source="MEDGEN:9747", source="MONDO:MEDGEN"} -is_a: MONDO:0006055 {source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="DOID:2696", source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor [Term] id: MONDO:0006267 @@ -123915,7 +124165,7 @@ xref: NCIT:C45202 {source="MONDO:equivalentTo", source="MONDO:exact-label-match" xref: ONCOTREE:LGFMS {source="MONDO:equivalentTo"} xref: SCTID:404088004 {source="MONDO:equivalentTo"} xref: UMLS:C1275282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:224814"} -is_a: MONDO:0005164 {source="EFO:1000328", source="MONDO:Redundant", source="NCIT:C45202/inferred"} ! fibrosarcoma +is_a: MONDO:0005164 {source="EFO:1000328", source="MONDO:Redundant", source="NCIT:C45202", source="NCIT:C45202/inferred"} ! fibrosarcoma intersection_of: MONDO:0005164 ! fibrosarcoma intersection_of: has_characteristic MONDO:0024491 ! tumor grade 1, general grading system @@ -124046,6 +124296,7 @@ xref: SCTID:277844007 {source="MONDO:equivalentTo", source="DOID:3319"} xref: UMLS:C0349649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91161"} is_a: MONDO:0005087 {source="Orphanet:538"} ! respiratory system disorder is_a: MONDO:0011705 {source="MONDO:Redundant", source="NCIT:C38153"} ! lymphangioleiomyomatosis +is_a: MONDO:0020588 {source="NCIT:C38153"} ! lung PEComa intersection_of: MONDO:0011705 ! lymphangioleiomyomatosis intersection_of: disease_has_location UBERON:0002048 ! lung relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1000334", source="https://orcid.org/0000-0001-5208-3432"} ! lung carcinoma @@ -124067,6 +124318,7 @@ xref: MEDGEN:1709750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8295 {source="MONDO:equivalentTo", source="EFO:1000335", source="MONDO:exact-label-match"} xref: UMLS:C5397991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709750"} is_a: MONDO:0002363 {source="MONDO:Redundant", source="NCIT:C8295"} ! papilloma +is_a: MONDO:0002732 {source="NCIT:C8295"} ! lung benign neoplasm is_a: MONDO:0005070 {source="EFO:1000335", source="MONDO:Redundant", source="NCIT:C8295/inferred"} ! neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -124209,6 +124461,7 @@ xref: UMLS:C1334549 {source="MEDGEN:235287", source="MONDO:equivalentTo", source is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5907"} ! salivary gland carcinoma is_a: MONDO:0004669 {source="MONDO:0006284/inferred", source="MONDO:Redundant", source="NCIT:C5907", source="NCIT:C5907/inferred"} ! salivary gland cancer is_a: MONDO:0021368 {source="MONDO:0006284/inferred", source="MONDO:Entailed", source="NCIT:C5907/inferred"} ! neoplasm of major salivary gland +is_a: MONDO:0044743 {source="NCIT:C5907"} ! major salivary gland cancer intersection_of: MONDO:0004993 {source="NCIT:C5907"} ! carcinoma intersection_of: disease_has_location UBERON:0001829 {source="NCIT:C5907"} ! major salivary gland @@ -124349,6 +124602,7 @@ xref: MEDGEN:890580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4925 {source="EFO:1000352", source="MONDO:equivalentTo"} xref: SCTID:145831000119103 {source="MONDO:equivalentTo"} xref: UMLS:C4048549 {source="MEDGEN:890580", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004992 {source="NCIT:C4925"} ! cancer is_a: MONDO:0005040 {source="EFO:1000352", source="MONDO:Redundant", source="NCIT:C4925"} ! germ cell tumor intersection_of: MONDO:0005040 ! germ cell tumor intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -124426,6 +124680,7 @@ xref: Orphanet:50251 {source="OMIM:156240", source="MONDO:equivalentTo"} xref: SCTID:109378008 {source="MONDO:equivalentTo"} xref: SCTID:62064005 {source="DOID:1790"} xref: UMLS:C0345967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91062"} +is_a: MONDO:0004992 {source="DOID:1790", source="NCIT:C4456"} ! cancer is_a: MONDO:0005065 {source="EFO:1000355", source="MESH:C562839", source="MONDO:Redundant", source="NCIT:C4456"} ! mesothelioma intersection_of: MONDO:0005065 ! mesothelioma intersection_of: has_characteristic PATO:0002097 ! neoplastic, malignant @@ -124564,6 +124819,7 @@ xref: MEDGEN:277334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6446 {source="EFO:1000366", source="MONDO:equivalentTo", source="NCIT:C6446"} xref: SCTID:713293002 {source="MONDO:equivalentTo"} xref: UMLS:C1334597 {source="MEDGEN:277334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003113 {source="NCIT:C6446"} ! extragonadal germ cell cancer is_a: MONDO:0005843 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal cancer is_a: MONDO:0021067 {source="MONDO:Redundant", source="NCIT:C6446"} ! mediastinal germ cell tumor intersection_of: MONDO:0021067 ! mediastinal germ cell tumor @@ -124661,6 +124917,7 @@ xref: MEDGEN:235328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5948 {source="MONDO:equivalentTo", source="EFO:1000379", source="MONDO:exact-label-match"} xref: UMLS:C1334768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235328"} is_a: MONDO:0004970 {source="EFO:1000379", source="MONDO:Redundant", source="NCIT:C5948/inferred"} ! adenocarcinoma +is_a: MONDO:0045069 {source="NCIT:C5948"} ! minor salivary gland carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland @@ -124727,7 +124984,7 @@ xref: MEDGEN:235338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5248 {source="EFO:1000386", source="MONDO:equivalentTo", source="DOID:3716"} xref: ONCOTREE:MSTAD {source="MONDO:equivalentTo"} xref: UMLS:C1334809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:235338"} -is_a: MONDO:0004957 {source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:3716", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248"} ! mucinous adenocarcinoma is_a: MONDO:0005036 {source="DOID:3716/inferred", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -125240,6 +125497,7 @@ xref: NCIT:C40031 {source="MONDO:equivalentTo", source="MONDO:exact-label-match" xref: UMLS:C1518729 {source="MEDGEN:309514", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000646 {source="DOID:5474", source="MONDO:Redundant", source="NCIT:C40031/inferred"} ! ovarian benign neoplasm is_a: MONDO:0005167 {source="EFO:1000428", source="MONDO:indirect"} ! fibroma +is_a: MONDO:0024886 {source="NCIT:C40031"} ! serous adenofibroma intersection_of: MONDO:0024886 ! serous adenofibroma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -125513,6 +125771,7 @@ synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/locati xref: MEDGEN:233840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6019 {source="EFO:1000454", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: UMLS:C1335337 {source="MEDGEN:233840", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000380 {source="NCIT:C6019"} ! paranasal sinus carcinoma is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6019/inferred"} ! head and neck carcinoma is_a: MONDO:0004971 {source="EFO:1000454", source="MONDO:Redundant", source="NCIT:C6019"} ! adenoid cystic carcinoma is_a: MONDO:0005289 {source="EFO:1000454", source="MONDO:Redundant", source="NCIT:C6019/inferred"} ! paranasal sinus neoplasm @@ -125605,6 +125864,7 @@ is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5937/inferred"} ! sa is_a: MONDO:0004700 {source="DOID:0050931", source="MONDO:Redundant", source="NCIT:C5937/inferred"} ! parotid gland cancer is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5937/inferred"} ! major salivary gland carcinoma is_a: MONDO:0021331 {source="MONDO:Redundant", source="NCIT:C5937"} ! carcinoma of parotid gland +is_a: MONDO:0045063 {source="NCIT:C5937"} ! major salivary gland adenoid cystic carcinoma intersection_of: MONDO:0004971 ! adenoid cystic carcinoma intersection_of: disease_has_location UBERON:0001831 ! parotid gland @@ -125927,7 +126187,7 @@ xref: ONCOTREE:PTCY {source="MONDO:equivalentTo"} xref: Orphanet:251623 {source="MONDO:equivalentTo"} xref: SCTID:608817003 {source="MONDO:equivalentTo"} xref: UMLS:C2986550 {source="MEDGEN:458776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003257 {source="NCIT:C94524"} ! posterior pituitary gland neoplasm +is_a: MONDO:0003257 {source="DOID:0081280", source="NCIT:C94524"} ! posterior pituitary gland neoplasm is_a: MONDO:0016685 {source="Orphanet:251623"} ! low-grade astrocytoma [Term] @@ -126024,6 +126284,7 @@ xref: SCTID:237268002 {source="MONDO:equivalentTo", source="DOID:277"} xref: SCTID:699948001 {source="DOID:277"} xref: UMLS:C0677608 {source="MEDGEN:195606", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4868/inferred"} ! placenta disorder +is_a: MONDO:0006500 {source="DOID:277", source="NCIT:C4868"} ! hemangioma is_a: MONDO:0021498 {source="MONDO:Redundant", source="NCIT:C4868"} ! benign neoplasm of placenta intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0001987 ! placenta @@ -126418,6 +126679,7 @@ xref: UMLS:C1335691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000530 {source="MONDO:Redundant", source="NCIT:C5620"} ! rectum adenoma is_a: MONDO:0005484 {source="EFO:1000505", source="MONDO:Redundant", source="NCIT:C5620/inferred"} ! colorectal adenoma is_a: MONDO:0024661 {source="NCIT:C5620/inferred"} ! tubulovillous adenoma +is_a: MONDO:0024662 {source="NCIT:C5620"} ! colorectal tubulovillous adenoma relationship: disease_has_location UBERON:0001052 ! rectum [Term] @@ -126480,6 +126742,7 @@ xref: NCIT:C39741 {source="MONDO:equivalentTo", source="EFO:1000510", source="MO xref: UMLS:C1514921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:271681"} is_a: MONDO:0005070 {source="EFO:1000510", source="MONDO:Redundant", source="NCIT:C39741/inferred"} ! neoplasm is_a: MONDO:0015798 {source="MONDO:Redundant", source="NCIT:C39741"} ! inflammatory myofibroblastic tumor +is_a: MONDO:0024645 {source="NCIT:C39741"} ! retroperitoneal neoplasm intersection_of: MONDO:0015798 ! inflammatory myofibroblastic tumor intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space @@ -126642,7 +126905,7 @@ xref: NCIT:C27004 {source="DOID:4015", source="EFO:1000520", source="MONDO:equiv xref: SCTID:23109009 {source="DOID:4015"} xref: SCTID:65692009 {source="DOID:4015"} xref: UMLS:C0205697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60009"} -is_a: MONDO:0004993 {source="DOID:4015/inferred", source="EFO:1000520", source="NCIT:C27004"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:4015", source="DOID:4015/inferred", source="EFO:1000520", source="NCIT:C27004"} ! carcinoma is_a: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer intersection_of: MONDO:0004993 {source="NCIT:C27004"} ! carcinoma intersection_of: MONDO:0020633 {source="NCIT:C27004"} ! anaplastic cancer @@ -126932,6 +127195,8 @@ xref: MEDGEN:328036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C43552 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000538"} xref: UMLS:C1710112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328036"} is_a: MONDO:0004972 {source="EFO:1000538", source="NCIT:C43552/inferred"} ! adenoma +is_a: MONDO:0021303 {source="NCIT:C43552"} ! adenoma of small intestine +is_a: MONDO:0024660 {source="NCIT:C43552"} ! tubular adenoma intersection_of: MONDO:0024660 ! tubular adenoma intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -126945,6 +127210,7 @@ xref: MEDGEN:354182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C43553 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="EFO:1000539"} xref: UMLS:C1710113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354182"} is_a: MONDO:0004972 {source="EFO:1000539", source="NCIT:C43553/inferred"} ! adenoma +is_a: MONDO:0021303 {source="NCIT:C43553"} ! adenoma of small intestine is_a: MONDO:0024661 {source="MONDO:Redundant", source="NCIT:C43553"} ! tubulovillous adenoma intersection_of: MONDO:0024661 ! tubulovillous adenoma intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -127182,6 +127448,7 @@ xref: UMLS:C1336522 {source="MONDO:equivalentTo", source="MEDGEN:277773", source is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5935/inferred"} ! salivary gland adenoid cystic carcinoma is_a: MONDO:0004724 {source="NCIT:C5935"} ! submandibular gland cancer is_a: MONDO:0004971 {source="EFO:1000555", source="MONDO:Redundant", source="NCIT:C5935/inferred"} ! adenoid cystic carcinoma +is_a: MONDO:0045063 {source="NCIT:C5935"} ! major salivary gland adenoid cystic carcinoma [Term] id: MONDO:0006437 @@ -127271,7 +127538,7 @@ xref: NANDO:2200107 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NCIT:C4289 {source="MONDO:equivalentTo", source="EFO:1000563", source="MONDO:exact-label-match"} xref: ONCOTREE:TMT {source="MONDO:equivalentTo"} xref: UMLS:C0334523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87256"} -is_a: MONDO:0002601 {source="NCIT:C4289"} ! teratoma +is_a: MONDO:0002601 {source="DOID:0081246", source="NCIT:C4289"} ! teratoma is_a: MONDO:0005040 {source="EFO:1000563", source="MONDO:Redundant", source="NCIT:C4289/inferred"} ! germ cell tumor property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation" xsd:anyURI {source="GARD:0010646"} @@ -127423,7 +127690,7 @@ xref: SCTID:444374006 {source="DOID:4554", source="MONDO:equivalentTo"} xref: SCTID:444596001 {source="DOID:3284"} xref: UMLS:C0205969 {source="MEDGEN:60049", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Redundant", source="NCIT:C7569"} ! thymus cancer -is_a: MONDO:0004993 {source="EFO:1000576", source="MONDO:Redundant"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:3284", source="EFO:1000576", source="MONDO:Redundant", source="NCIT:C7569"} ! carcinoma is_a: MONDO:0018079 {source="MONDO:Redundant", source="NCIT:C7569", source="ONCOTREE:THYC", source="Orphanet:99868"} ! thymic epithelial neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus @@ -127450,7 +127717,7 @@ xref: MEDGEN:234772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6463 {source="DOID:8138", source="MONDO:equivalentTo", source="EFO:1000577"} xref: UMLS:C1335924 {source="MEDGEN:234772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006406 {source="DOID:8138", source="MONDO:Redundant", source="NCIT:C6463"} ! sarcomatoid carcinoma -is_a: MONDO:0006451 {source="DOID:8138/inferred", source="MONDO:Redundant", source="NCIT:C6463"} ! thymic carcinoma +is_a: MONDO:0006451 {source="DOID:8138", source="DOID:8138/inferred", source="MONDO:Redundant", source="NCIT:C6463"} ! thymic carcinoma intersection_of: MONDO:0006406 ! sarcomatoid carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus relationship: excluded_subClassOf MONDO:0003493 {source="DOID:8138", source="https://orcid.org/0000-0001-5208-3432"} ! thymus squamous cell carcinoma @@ -127777,7 +128044,7 @@ xref: SCTID:255031003 {source="MONDO:equivalentTo"} xref: UMLS:C0238461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116064"} is_a: MONDO:0005232 {source="NCIT:C3878"} ! large cell carcinoma is_a: MONDO:0005617 {source="EFO:1000595", source="MONDO:Redundant", source="NCIT:C3878"} ! undifferentiated carcinoma -is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C3878", source="Orphanet:142"} ! thyroid gland carcinoma +is_a: MONDO:0015075 {source="DOID:0080522", source="MONDO:Redundant", source="NCIT:C3878", source="Orphanet:142"} ! thyroid gland carcinoma intersection_of: MONDO:0005617 ! undifferentiated carcinoma intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -127827,6 +128094,8 @@ xref: NCIT:C8183 {source="EFO:1000597", source="MONDO:equivalentTo"} xref: UMLS:C0280317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79101"} is_a: MONDO:0000536 {source="DOID:0050920", source="MONDO:Entailed"} ! pharyngeal squamous cell carcinoma is_a: MONDO:0006998 {source="DOID:0050920", source="MONDO:Redundant"} ! tonsil cancer +is_a: MONDO:0021337 {source="NCIT:C8183"} ! tonsil carcinoma +is_a: MONDO:0044704 {source="NCIT:C8183"} ! oropharynx squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0002373 ! palatine tonsil relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -128282,9 +128551,9 @@ xref: NCIT:C7736 {source="MONDO:equivalentTo", source="EFO:1000620"} xref: ONCOTREE:VSC {source="MONDO:equivalentTo"} xref: SCTID:105121000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0238518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66775"} -is_a: MONDO:0001806 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal squamous tumor -is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Redundant", source="NCIT:C7736"} ! squamous cell carcinoma -is_a: MONDO:0015867 {source="MONDO:Redundant", source="NCIT:C7736"} ! vaginal carcinoma +is_a: MONDO:0001806 {source="MONDO:Redundant", source="NCIT:C180915", source="NCIT:C7736"} ! vaginal squamous tumor +is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Redundant", source="NCIT:C180915", source="NCIT:C7736"} ! squamous cell carcinoma +is_a: MONDO:0015867 {source="MONDO:Redundant", source="NCIT:C180915", source="NCIT:C7736"} ! vaginal carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -128389,7 +128658,7 @@ xref: SCTID:267696006 {source="DOID:1969"} xref: SCTID:270488006 {source="DOID:1969"} xref: UMLS:C0007789 {source="MEDGEN:854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005560 {source="DOID:1969", source="MESH:D002547/inferred", source="MONDO:Redundant"} ! brain disorder -is_a: MONDO:0006496 {source="EFO:1000632"} ! palsy +is_a: MONDO:0006496 {source="EFO:1000632", source="ICD10CM:G80"} ! palsy relationship: disease_has_location UBERON:0000956 {source="EFO:0000784"} ! cerebral cortex relationship: excluded_subClassOf MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C34460", source="https://orcid.org/0000-0001-5208-3432"} ! neurodegenerative disease @@ -128571,7 +128840,7 @@ xref: SCTID:300389006 {source="DOID:2861"} xref: SCTID:301317008 {source="DOID:2861", source="MONDO:equivalentTo"} xref: SCTID:82775009 {source="DOID:2861"} xref: UMLS:C0002882 {source="MEDGEN:284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003689 {xref="https://github.com/monarch-initiative/mondo/issues/1503", xref="https://orcid.org/0000-0001-6330-7526"} ! familial hemolytic anemia +is_a: MONDO:0003689 {xref="https://github.com/monarch-initiative/mondo/issues/1503", xref="https://orcid.org/0000-0001-6330-7526", source="DOID:2861"} ! familial hemolytic anemia is_a: MONDO:0019050 {source="EFO:1000641"} ! inherited hemoglobinopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -129098,7 +129367,7 @@ xref: SCTID:360584008 {source="DOID:10964"} xref: SCTID:39911004 {source="DOID:10964"} xref: SCTID:87688009 {source="DOID:10964"} xref: UMLS:C0155490 {source="MEDGEN:57836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Redundant", source="NCIT:C3654"} ! middle ear disorder +is_a: MONDO:0003276 {source="DOID:10964", source="ICD10CM:H71", source="MONDO:Redundant", source="NCIT:C3654"} ! middle ear disorder is_a: MONDO:0006530 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Redundant", source="NCIT:C3654"} ! cholesteatoma intersection_of: MONDO:0006530 ! cholesteatoma intersection_of: disease_has_location UBERON:0001756 ! middle ear @@ -129153,6 +129422,7 @@ xref: OMIMPS:608594 {source="DOID:0050585", source="MONDO:equivalentTo"} xref: SCTID:284449005 {source="MONDO:equivalentTo"} xref: UMLS:C0221032 {source="MEDGEN:67438", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006573 {source="DOID:0050585", source="DOID:0050585/inferred", source="EFO:1000681"} ! lipodystrophy +is_a: MONDO:0027766 {source="DOID:0050585"} ! generalized lipodystrophy intersection_of: MONDO:0027766 ! generalized lipodystrophy intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021152 {source="OMIMPS:608594"} ! inherited @@ -129502,6 +129772,7 @@ xref: SCTID:201183008 {source="DOID:4409"} xref: SCTID:267863007 {source="DOID:4409"} xref: UMLS:C0016436 {source="MEDGEN:4752", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Wikipedia:Folliculitis {source="EFO:1000702"} +is_a: MONDO:0002406 {source="DOID:4409"} ! dermatitis is_a: MONDO:0002917 {source="DOID:4409", source="MESH:D005499", source="MONDO:Redundant", source="NCIT:C94408/inferred"} ! disorder of pilosebaceous unit intersection_of: MONDO:0002406 ! dermatitis intersection_of: disease_has_inflammation_site UBERON:0002073 ! hair follicle @@ -129646,7 +129917,7 @@ xref: SCTID:270959002 {source="DOID:14482"} xref: SCTID:86081009 {source="MONDO:equivalentTo", source="DOID:14482", source="DOID:0040098"} xref: UMLS:C0019343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9233"} xref: Wikipedia:Gestational_pemphigoid {source="EFO:1000709"} -is_a: MONDO:0006594 {source="https://orcid.org/0000-0002-6601-2165"} ! pemphigus +is_a: MONDO:0006594 {source="DOID:0040098", source="https://orcid.org/0000-0002-6601-2165"} ! pemphigus is_a: MONDO:0006617 {source="DOID:14482", source="EFO:1000709", source="MESH:D006559", source="MONDO:indirect"} ! vesiculobullous skin disease is_a: MONDO:0007179 {source="DOID:0040098", source="Orphanet:63275/inferred"} ! autoimmune disease is_a: MONDO:0024575 {source="MESH:D006559", source="https://orcid.org/0000-0002-6601-2165"} ! pregnancy disorder @@ -129709,7 +129980,7 @@ xref: MEDGEN:509852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:193958004 {source="DOID:11668"} xref: SCTID:68210006 {source="DOID:11668", source="MONDO:equivalentTo"} xref: UMLS:C0155212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:509852"} -is_a: MONDO:0003382 {source="DOID:11668/inferred"} ! eyelid disorder +is_a: MONDO:0003382 {source="DOID:11668", source="DOID:11668/inferred"} ! eyelid disorder relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11668", source="https://orcid.org/0000-0001-5208-3432"} ! eyelid degenerative disorder [Term] @@ -130486,7 +130757,7 @@ xref: SCTID:156373006 {source="DOID:8892"} xref: SCTID:77252004 {source="MONDO:equivalentTo", source="DOID:8892"} xref: UMLS:C0032026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:18492"} xref: Wikipedia:Pityriasis_rosea {source="EFO:1000756"} -is_a: MONDO:0002406 {source="NCIT:C26855"} ! dermatitis +is_a: MONDO:0002406 {source="DOID:8892", source="NCIT:C26855"} ! dermatitis is_a: MONDO:0006547 {source="EFO:1000756", source="https://orcid.org/0000-0002-6601-2165"} ! exanthem relationship: excluded_subClassOf MONDO:0005083 {source="DOID:8892", source="EFO:1000756", source="https://orcid.org/0000-0001-5208-3432"} ! psoriasis @@ -130764,6 +131035,7 @@ xref: SCTID:187234008 {source="DOID:13402"} xref: SCTID:55941000 {source="MONDO:equivalentTo", source="DOID:13402"} xref: UMLS:C0036203 {source="MEDGEN:19872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Wikipedia:Cutaneous_manifestations_of_sarcoidosis {source="EFO:1000767"} +is_a: MONDO:0005093 {source="DOID:13402"} ! skin disorder is_a: MONDO:0019338 {source="DOID:13402", source="MONDO:Redundant", source="NCIT:C34996"} ! sarcoidosis intersection_of: MONDO:0019338 ! sarcoidosis intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -131018,7 +131290,7 @@ xref: MEDGEN:168058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D053201 {source="EFO:1000781", source="MONDO:equivalentTo"} xref: SCTID:236633002 {source="MONDO:equivalentTo"} xref: UMLS:C0878773 {source="MEDGEN:168058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006026 {source="EFO:1000781", source="MESH:D053201"} ! urinary bladder disorder +is_a: MONDO:0006026 {source="DOID:0070355", source="EFO:1000781", source="MESH:D053201"} ! urinary bladder disorder property_value: IAO:0000589 "overactive bladder (disease)" xsd:string [Term] @@ -131571,6 +131843,8 @@ xref: MESH:D020759 {source="DOID:6712", source="MONDO:equivalentTo", source="EFO xref: SCTID:14363008 {source="EFO:1000810"} xref: SCTID:2972007 {source="DOID:6712", source="MONDO:equivalentTo"} xref: UMLS:C0221069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:65125"} +is_a: MONDO:0000473 {source="DOID:6712"} ! arterial disorder +is_a: MONDO:0002254 {source="DOID:6712"} ! syndromic disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_location UBERON:0005431 ! anterior spinal artery @@ -131999,7 +132273,7 @@ xref: SCTID:243321006 {source="DOID:9700", source="MONDO:equivalentTo"} xref: SCTID:243462001 {source="DOID:9700"} xref: UMLS:C0009768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:3209"} is_a: MONDO:0003799 {source="DOID:9700", source="MESH:D003234", source="NCIT:C53656/inferred"} ! conjunctivitis -is_a: MONDO:0005113 {source="MESH:D003234/inferred", source="MONDO:Redundant", source="NCIT:C53656"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:9700", source="MESH:D003234/inferred", source="MONDO:Redundant", source="NCIT:C53656"} ! bacterial infectious disease is_a: MONDO:0006170 {source="EFO:1000829", source="NCIT:C53656/inferred"} ! conjunctival disorder intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria @@ -132062,6 +132336,7 @@ xref: SCTID:267680008 {source="DOID:9470"} xref: SCTID:95883001 {source="DOID:9470", source="MONDO:equivalentTo", source="EFO:1000831"} xref: UMLS:C0085437 {source="MEDGEN:39048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004796 {source="DOID:9470", source="EFO:1000831", source="MESH:D016920", source="MONDO:Redundant", source="NCIT:C118297"} ! infectious meningitis +is_a: MONDO:0005113 {source="DOID:9470"} ! bacterial infectious disease intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis" xsd:anyURI {source="GARD:0005881"} @@ -132228,7 +132503,7 @@ xref: SCTID:197830007 {source="DOID:11355"} xref: SCTID:70650003 {source="EFO:1000839", source="MONDO:equivalentTo", source="DOID:11355"} xref: UMLS:C0005683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14149"} is_a: MONDO:0004828 {source="DOID:11355"} ! lower urinary tract calculus -is_a: MONDO:0006026 {source="EFO:1000839", source="MESH:D001744"} ! urinary bladder disorder +is_a: MONDO:0006026 {source="DOID:11355", source="EFO:1000839", source="MESH:D001744"} ! urinary bladder disorder [Term] id: MONDO:0006679 @@ -133048,7 +133323,7 @@ xref: SCTID:448015002 {source="MONDO:equivalentTo", source="DOID:4418"} xref: SCTID:72079004 {source="DOID:4418"} xref: UMLS:C0002991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1930"} is_a: MONDO:0002300 {source="DOID:4418", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! dermis tumor -is_a: MONDO:0002989 {source="NCIT:C6801"} ! benign fibrous histiocytoma +is_a: MONDO:0002989 {source="DOID:4418", source="NCIT:C6801"} ! benign fibrous histiocytoma is_a: MONDO:0005509 {source="EFO:1000885", source="MONDO:Redundant", source="NCIT:C6801/inferred"} ! histiocytoma [Term] @@ -133996,6 +134271,7 @@ xref: MEDGEN:39285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D016921 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"} xref: SCTID:24321005 {source="MONDO:equivalentTo", source="DOID:11608", source="EFO:1000942"} xref: UMLS:C0085438 {source="MEDGEN:39285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002041 {source="DOID:11608"} ! fungal infectious disease is_a: MONDO:0004796 {source="DOID:11608", source="EFO:1000942", source="MESH:D016921", source="MONDO:Redundant"} ! infectious meningitis intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi @@ -134641,7 +134917,7 @@ xref: MESH:D007029 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO xref: NCIT:C3129 {source="MONDO:equivalentTo", source="DOID:3644", source="EFO:1000979"} xref: SCTID:254968009 {source="MONDO:equivalentTo", source="DOID:3644"} xref: UMLS:C0020659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5717"} -is_a: MONDO:0002150 {source="MESH:D007029", source="MONDO:Redundant"} ! hypothalamic disorder +is_a: MONDO:0002150 {source="DOID:3644", source="MESH:D007029", source="MONDO:Redundant"} ! hypothalamic disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001898 ! hypothalamus relationship: excluded_subClassOf MONDO:0003766 {source="DOID:3644", source="https://orcid.org/0000-0001-5208-3432"} ! thalamic cancer @@ -136813,8 +137089,8 @@ xref: SCTID:128474007 {source="EFO:1001087", source="MONDO:equivalentTo", source xref: UMLS:C0262587 {source="MEDGEN:75502", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000627 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916"} ! benign endocrine neoplasm is_a: MONDO:0001223 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916/inferred"} ! parathyroid gland disorder -is_a: MONDO:0004972 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916"} ! adenoma -is_a: MONDO:0021463 {source="MONDO:Redundant", source="NCIT:C3916"} ! benign neoplasm of parathyroid gland +is_a: MONDO:0004972 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C156757", source="NCIT:C3916"} ! adenoma +is_a: MONDO:0021463 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C156757", source="NCIT:C3916"} ! benign neoplasm of parathyroid gland intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland @@ -136922,6 +137198,7 @@ xref: SCTID:126896003 {source="DOID:11624", source="MONDO:equivalentTo"} xref: UMLS:C0030849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14656"} is_a: MONDO:0002036 {source="DOID:11624", source="MESH:D010412", source="MONDO:Redundant", source="NCIT:C3317"} ! penile disorder is_a: MONDO:0006054 {source="EFO:1001094", source="MONDO:Entailed", source="NCIT:C3317/inferred"} ! reproductive system neoplasm +is_a: MONDO:0024582 {source="NCIT:C3317"} ! male reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000989 ! penis @@ -137350,7 +137627,7 @@ xref: SCTID:15777000 {source="DOID:11716"} xref: SCTID:714628002 {source="DOID:11716"} xref: SCTID:9414007 {source="DOID:11716"} xref: UMLS:C0362046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83928"} -is_a: MONDO:0002908 {source="DOID:11716/inferred", source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease +is_a: MONDO:0002908 {source="DOID:11716", source="DOID:11716/inferred", source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease relationship: excluded_subClassOf MONDO:0005015 {source="DOID:11716", source="EFO:1001121", source="MESH:D011236", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI @@ -138184,6 +138461,7 @@ xref: UMLS:C0206684 {source="MEDGEN:64632", source="MONDO:equivalentTo", source= is_a: MONDO:0004970 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Redundant", source="NCIT:C40310"} ! adenocarcinoma is_a: MONDO:0006963 {source="MONDO:Entailed", source="NCIT:C40310/inferred"} ! sebaceous gland neoplasm is_a: MONDO:0006973 {source="MONDO:Redundant", source="NCIT:C40310"} ! skin appendage carcinoma +is_a: MONDO:0037735 {source="NCIT:C40310"} ! sebaceous gland cancer intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland @@ -138467,7 +138745,7 @@ xref: MESH:D018228 {source="EFO:1001184", source="MONDO:equivalentTo", source="D xref: NCIT:C3746 {source="EFO:1001184", source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3098"} xref: SCTID:73506006 {source="EFO:1001184", source="DOID:3098"} xref: UMLS:C0206652 {source="MEDGEN:60201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005089 {source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:3098", source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma relationship: excluded_subClassOf MONDO:0002176 {source="DOID:3098", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete connective tissue cancer [Term] @@ -139610,7 +139888,7 @@ xref: SCTID:442191002 {source="EFO:1001249"} xref: UMLS:C3241937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:469032"} is_a: MONDO:0002251 {source="NCIT:C84445"} ! hepatitis is_a: MONDO:0004790 {source="EFO:1001249", source="MONDO:indirect"} ! fatty liver disease -is_a: MONDO:0013209 {source="EFO:1001249", source="NCIT:C84445"} ! metabolic dysfunction-associated steatotic liver disease +is_a: MONDO:0013209 {source="DOID:0080547", source="EFO:1001249", source="NCIT:C84445"} ! metabolic dysfunction-associated steatotic liver disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6716" xsd:anyURI [Term] @@ -139668,7 +139946,7 @@ xref: SCTID:290006 {source="DOID:14702", source="EFO:1001251", source="MONDO:equ xref: UMLS:C0265234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82693"} xref: Wikipedia:Branchio-oto-renal_syndrome {source="EFO:1001251"} is_a: MONDO:0000426 {source="DOID:14702", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98983"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14702", source="MONDO:Redundant", source="NCIT:C98983"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:107"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:107", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations relationship: has_characteristic HP:0000006 {source="Orphanet:107"} ! Autosomal dominant inheritance @@ -139698,8 +139976,8 @@ xref: Orphanet:915 {source="OMIM:100050", source="MONDO:directSiblingOf"} xref: SCTID:14921002 {source="MONDO:directSiblingOf", source="DOID:6683"} xref: SCTID:205809002 {source="DOID:6683"} xref: UMLS:C3149220 {source="MEDGEN:460570", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000426 {source="DOID:6683"} ! autosomal dominant disease -is_a: MONDO:0021005 {source="https://orcid.org/0000-0002-6601-2165"} ! faciodigitogenital syndrome +is_a: MONDO:0000426 {source="DOID:0111825", source="DOID:6683"} ! autosomal dominant disease +is_a: MONDO:0021005 {source="DOID:0111825", source="https://orcid.org/0000-0002-6601-2165"} ! faciodigitogenital syndrome [Term] id: MONDO:0007031 @@ -139815,6 +140093,7 @@ xref: SCTID:82373004 {source="DOID:10865"} xref: UMLS:C4551519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645218"} is_a: MONDO:0002782 {source="DOID:10865", source="MONDO:Redundant", source="NCIT:C27592"} ! cranial nerve palsy is_a: MONDO:0003620 {source="DOID:10865/inferred", source="MONDO:Redundant"} ! peripheral nervous system disorder +is_a: MONDO:0020594 {source="NCIT:C27592"} ! abducens nerve disorder intersection_of: MONDO:0002782 ! cranial nerve palsy intersection_of: disease_has_location UBERON:0001646 ! abducens nerve @@ -140627,7 +140906,7 @@ xref: Orphanet:399808 {source="OMIM:102530"} xref: SCTID:236818008 {source="MONDO:equivalentTo"} xref: UMLS:C0403825 {source="MEDGEN:96048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004983 {source="DC-OMIM:102530", source="MONDO:Redundant", source="OMIM:102530"} ! spermatogenic failure -is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia +is_a: MONDO:0015746 {source="DOID:0070167", source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29935 ! SPATA16 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29935 ! SPATA16 @@ -140733,7 +141012,7 @@ xref: SCTID:44940001 {source="DOID:5810", source="MONDO:equivalentTo"} xref: UMLS:C1863236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354935"} is_a: MONDO:0017855 {source="Orphanet:277", source="PMID:31953710"} ! T-B- severe combined immunodeficiency is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism -is_a: MONDO:0031520 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="Orphanet:277/inferred"} ! familial severe combined immunodeficiency +is_a: MONDO:0031520 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="OMIM:102700", source="Orphanet:277/inferred"} ! familial severe combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/186 {source="MONDO:mim2gene_medgen"} ! ADA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4200" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -141092,7 +141371,7 @@ xref: SCTID:58833000 {source="MONDO:equivalentTo"} xref: UMLS:C3494506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:488447"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia -is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism +is_a: MONDO:0019992 {source="DOID:0080053", source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -141175,7 +141454,7 @@ xref: OMIM:103900 {source="DOID:14080", source="Orphanet:403", source="MONDO:equ xref: Orphanet:403 {source="MONDO:equivalentTo", source="OMIM:103900"} xref: SCTID:237743003 {source="DOID:14080"} xref: UMLS:C3838731 {source="MEDGEN:824577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016525 {source="Orphanet:403"} ! familial hyperaldosteronism +is_a: MONDO:0016525 {source="OMIM:103900", source="Orphanet:403"} ! familial hyperaldosteronism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2591 {source="MONDO:mim2gene_medgen"} ! CYP11B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism" xsd:anyURI {source="GARD:0002790"} @@ -141235,7 +141514,7 @@ xref: Orphanet:1010 {source="OMIM:104100", source="MONDO:equivalentTo"} xref: SCTID:719518004 {source="MONDO:equivalentTo"} xref: UMLS:C4304669 {source="MEDGEN:930338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -is_a: MONDO:0019287 {source="Orphanet:1010"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111244", source="Orphanet:1010"} ! ectodermal dysplasia syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia" xsd:anyURI {source="GARD:0000604"} @@ -141309,8 +141588,8 @@ xref: Orphanet:63 {source="OMIM:104200"} xref: Orphanet:88918 {source="OMIM:104200", source="MONDO:equivalentTo", source="DOID:0110032"} xref: SCTID:717766000 {source="MONDO:equivalentTo"} xref: UMLS:C4746547 {source="MEDGEN:1648326", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="Orphanet:88918"} ! Alport syndrome +is_a: MONDO:0000426 {source="DOID:0110032", source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0018965 {source="DC-OMIM:104200", source="DOID:0110032", source="MONDO:Redundant", source="OMIM:104200", source="Orphanet:88918"} ! Alport syndrome intersection_of: MONDO:0018965 ! Alport syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:104200", source="Orphanet:88918"} ! Autosomal dominant inheritance @@ -141459,6 +141738,7 @@ xref: OMIM:104500 {source="MONDO:equivalentTo", source="DOID:0110052"} xref: Orphanet:100031 {source="OMIM:104500"} xref: SCTID:234961008 {source="MONDO:equivalentTo"} xref: UMLS:C0399368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:97993"} +is_a: MONDO:0000426 {source="DOID:0110052"} ! autosomal dominant disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0015047 {source="Orphanet:100031/btnt"} ! amelogenesis imperfecta type 1 is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500"} ! amelogenesis imperfecta @@ -141750,6 +142030,7 @@ xref: Orphanet:271861 {source="OMIM:105210", source="MONDO:equivalentTo"} xref: Orphanet:85451 {source="OMIM:105210"} xref: SCTID:42295001 {source="MONDO:equivalentTo"} xref: UMLS:C2751492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414031"} +is_a: MONDO:0018634 {source="Orphanet:271861"} ! hereditary amyloidosis is_a: MONDO:0019065 {source="DOID:0050638", source="DOID:0050761"} ! amyloidosis is_a: MONDO:0020127 {source="MONDO:0016134-obsoleted"} ! hereditary peripheral neuropathy relationship: has_characteristic MONDO:0021152 {source="OMIMPS:105210"} ! inherited @@ -141983,7 +142264,7 @@ xref: OMIM:105600 {source="Orphanet:98870/e", source="MONDO:equivalentTo", sourc xref: Orphanet:98870 {source="MONDO:equivalentTo", source="OMIM:105600"} xref: SCTID:26409005 {source="MONDO:equivalentTo"} xref: UMLS:C5676874 {source="MEDGEN:1801596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019403 {source="DC-OMIM:105600", source="OMIM:105600", source="Orphanet:98870"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="DC-OMIM:105600", source="DOID:0111399", source="OMIM:105600", source="Orphanet:98870"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -142020,7 +142301,7 @@ xref: NCIT:C176911 {source="MONDO:equivalentTo"} xref: OMIM:105650 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:105650"} xref: UMLS:C2676137 {source="MEDGEN:390966", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:105650", source="MONDO:Redundant", source="OMIM:105650"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:105650", source="DOID:0111895", source="MONDO:Redundant", source="OMIM:105650"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 ! RPS19 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10402 {source="MONDO:mim2gene_medgen"} ! RPS19 @@ -142040,7 +142321,7 @@ xref: MEDGEN:354864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566284 {source="MONDO:equivalentTo"} xref: OMIM:105800 {source="MONDO:equivalentTo"} xref: UMLS:C1862932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354864"} -is_a: MONDO:0016483 {source="DC-OMIM:105800", source="OMIM:105800"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:105800", source="DOID:0080964", source="OMIM:105800"} ! intracranial berry aneurysm [Term] id: MONDO:0007112 @@ -142108,7 +142389,7 @@ xref: OMIM:105830 {source="Orphanet:72/e", source="MONDO:equivalentTo", source=" xref: Orphanet:72 {source="MONDO:equivalentTo", source="OMIM:105830"} xref: SCTID:76880004 {source="MONDO:equivalentTo", source="DOID:1932"} xref: UMLS:C0162635 {source="MEDGEN:58144", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75462"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1932", source="MONDO:Redundant", source="NCIT:C75462"} ! syndromic disease is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:72", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy @@ -142365,7 +142646,7 @@ xref: UMLS:C0406709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0090119", source="MESH:C535847", source="Orphanet:1071"} ! ectodermal dysplasia syndrome relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:1071", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -142714,7 +142995,7 @@ xref: MEDGEN:1631197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:107250 {source="MONDO:equivalentTo", source="DOID:0060605"} xref: Orphanet:88632 {source="DOID:0060605", source="OMIM:107250"} xref: UMLS:C4551992 {source="MEDGEN:1631197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019503 {source="DC-OMIM:107250", source="OMIM:107250"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:107250", source="DOID:0080606", source="OMIM:107250"} ! anterior segment dysgenesis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -142789,7 +143070,7 @@ xref: Orphanet:857 {source="MONDO:equivalentTo", source="OMIM:107480"} xref: SCTID:24750000 {source="MONDO:equivalentTo"} xref: UMLS:C0265246 {source="MEDGEN:75555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0050887", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99085", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050887", source="MONDO:Redundant", source="NCIT:C99085", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:857"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019054 ! congenital limb malformation relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:107480", source="Orphanet:857"} ! Autosomal dominant inheritance @@ -143108,7 +143389,7 @@ xref: OMIM:108120 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="OMIM:108120"} xref: SCTID:715314008 {source="MONDO:equivalentTo"} xref: UMLS:C0220662 {source="MEDGEN:113099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015240 ! digitotalar dysmorphism +is_a: MONDO:0015240 {source="DOID:0111597"} ! digitotalar dysmorphism is_a: MONDO:0019942 ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12011 {source="MONDO:mim2gene_medgen"} ! TPM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -143144,7 +143425,7 @@ xref: OMIM:108145 {source="Orphanet:1154", source="GARD:0004047", source="MONDO: xref: Orphanet:1154 {source="GARD:0004047", source="OMIM:108145", source="MONDO:equivalentTo"} xref: SCTID:715217004 {source="MONDO:equivalentTo"} xref: UMLS:C1862472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350678"} -is_a: MONDO:0019942 {source="DC-OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:108145", source="DOID:0111608", source="OMIM:108145", source="Orphanet:1154"} ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5" xsd:anyURI {source="GARD:0004047"} @@ -143174,7 +143455,7 @@ xref: OMIM:108200 {source="Orphanet:1144", source="MONDO:equivalentTo", source=" xref: Orphanet:1144 {source="OMIM:108200", source="MONDO:equivalentTo"} xref: SCTID:720515009 {source="MONDO:equivalentTo"} xref: UMLS:C1862471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350677"} -is_a: MONDO:0019942 {source="DC-OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:108200", source="DOID:0111609", source="OMIM:108200", source="Orphanet:1144"} ! distal arthrogryposis [Term] id: MONDO:0007160 @@ -143204,7 +143485,7 @@ xref: OMIM:108300 {source="MONDO:equivalentTo", source="Orphanet:90653", source= xref: Orphanet:828 {source="OMIM:108300"} xref: Orphanet:90653 {source="OMIM:108300", source="MONDO:equivalentTo"} xref: UMLS:C2020284 {source="MEDGEN:810955", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019354 {source="DC-OMIM:108300", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome +is_a: MONDO:0019354 {source="DC-OMIM:108300", source="DOID:0080676", source="OMIM:108300", source="Orphanet:90653"} ! Stickler syndrome is_a: MONDO:0022800 {source="Orphanet:90653", source="PMID:31633310"} ! type 2 collagenopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -143223,7 +143504,7 @@ xref: MEDGEN:400056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:108420 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:108420"} xref: UMLS:C1862459 {source="MEDGEN:400056", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:108420", source="OMIM:108420"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:108420", source="DOID:0070164", source="OMIM:108420"} ! spermatogenic failure [Term] id: MONDO:0007162 @@ -143863,7 +144144,7 @@ xref: SCTID:188145001 {source="DOID:2512"} xref: SCTID:254704004 {source="DOID:2512"} xref: SCTID:69408002 {source="DOID:2512", source="MONDO:equivalentTo"} xref: UMLS:C0004779 {source="MEDGEN:2554", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000426 {source="DOID:2512", source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0070365", source="DOID:2512", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377"} ! hereditary neoplastic syndrome is_a: MONDO:0019755 ! developmental defect during embryogenesis is_a: MONDO:0021147 ! disorder of development or morphogenesis @@ -144011,7 +144292,7 @@ xref: MEDGEN:1642459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:109720 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:109720"} xref: UMLS:C4551595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642459"} -is_a: MONDO:0005388 {source="DC-OMIM:109720", source="OMIM:109720"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:109720", source="DOID:0070358", source="OMIM:109720"} ! primary biliary cholangitis [Term] id: MONDO:0007194 @@ -144477,7 +144758,7 @@ xref: OMIM:112410 {source="Orphanet:1276", source="MONDO:equivalentTo", source=" xref: Orphanet:1276 {source="MONDO:equivalentTo", source="OMIM:112410"} xref: SCTID:720568003 {source="MONDO:equivalentTo"} xref: UMLS:C1862170 {source="MEDGEN:349445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111247", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0018234 {source="PMID:31549136", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation @@ -144588,7 +144869,7 @@ xref: OMIM:112500 {source="DOID:0110964", source="Orphanet:93388", source="MONDO xref: Orphanet:93388 {source="DOID:0110964", source="MONDO:equivalentTo", source="OMIM:112500"} xref: SCTID:715720006 {source="MONDO:equivalentTo"} xref: UMLS:C1862151 {source="MEDGEN:354673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110964", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1" xsd:anyURI {source="GARD:0000978"} @@ -144621,7 +144902,7 @@ xref: Orphanet:93396 {source="DOID:0110965", source="MONDO:equivalentTo", source xref: SCTID:720569006 {source="MONDO:equivalentTo"} xref: UMLS:C1832702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318690"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110965", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2" xsd:anyURI {source="GARD:0000979"} property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2" xsd:anyURI {source="GARD:0000989"} @@ -144644,7 +144925,7 @@ xref: MESH:C537090 {source="MONDO:equivalentTo"} xref: OMIM:112700 {source="DOID:0110966", source="MONDO:equivalentTo"} xref: Orphanet:93393 {source="MONDO:equivalentObsolete", source="OMIM:112700"} xref: UMLS:C1862140 {source="MEDGEN:354670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110966", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3" xsd:anyURI {source="GARD:0000963"} [Term] @@ -144676,7 +144957,7 @@ xref: OMIM:112800 {source="Orphanet:93394", source="DOID:0110967", source="MONDO xref: Orphanet:93394 {source="DOID:0110967", source="MONDO:equivalentTo", source="OMIM:112800"} xref: SCTID:715721005 {source="MONDO:equivalentTo"} xref: UMLS:C1862139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354669"} -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110967", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4" xsd:anyURI {source="GARD:0000990"} [Term] @@ -144706,8 +144987,8 @@ xref: OMIM:112910 {source="Orphanet:93382/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93382 {source="MONDO:equivalentTo", source="DOID:0110968", source="OMIM:112910"} xref: SCTID:715722003 {source="MONDO:equivalentTo"} xref: UMLS:C1862130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350598"} -is_a: MONDO:0019696 {source="Orphanet:93382", source="PMID:31633310"} ! acromesomelic dysplasia -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0019696 {source="OMIM:112910", source="Orphanet:93382", source="PMID:31633310"} ! acromesomelic dysplasia +is_a: MONDO:0021004 {source="DOID:0110968", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6" xsd:anyURI {source="GARD:0000983"} @@ -144733,7 +145014,7 @@ xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"} xref: Orphanet:572385 {source="MONDO:equivalentTo"} xref: Orphanet:93383 {source="OMIM:113000"} xref: UMLS:C1862112 {source="MEDGEN:349432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019676 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! brachydactyly type B +is_a: MONDO:0019676 {source="MONDO:Redundant", source="Orphanet:572385", source="https://orcid.org/0000-0002-6601-2165"} ! brachydactyly type B intersection_of: MONDO:0019676 ! brachydactyly type B intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 ! ROR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10257 {source="MONDO:mim2gene_medgen"} ! ROR2 @@ -144763,7 +145044,7 @@ xref: MESH:C537093 {source="Orphanet:93384", source="MONDO:equivalentTo", source xref: OMIM:113100 {source="Orphanet:93384", source="MONDO:equivalentTo", source="Orphanet:93384/e", source="DOID:0110970"} xref: Orphanet:93384 {source="OMIM:113100", source="MONDO:equivalentTo", source="DOID:0110970"} xref: UMLS:C1862103 {source="MEDGEN:350590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110970", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -144784,7 +145065,7 @@ xref: MESH:C562420 {source="MONDO:equivalentTo"} xref: OMIM:113200 {source="MONDO:equivalentTo", source="DOID:0110971"} xref: Orphanet:93385 {source="MONDO:equivalentObsolete", source="OMIM:113200"} xref: UMLS:C0220664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66313"} -is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly +is_a: MONDO:0021004 {source="DOID:0110971", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5136 {source="MONDO:mim2gene_medgen"} ! HOXD13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -145106,7 +145387,7 @@ xref: MEDGEN:1632634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:113650 {source="MONDO:equivalentTo"} xref: Orphanet:107 {source="OMIM:113650"} xref: UMLS:C4551702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632634"} -is_a: MONDO:0007029 {source="DC-OMIM:113650"} ! branchio-oto-renal syndrome +is_a: MONDO:0007029 {source="DC-OMIM:113650", source="DOID:0111423", source="OMIM:113650"} ! branchio-oto-renal syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:113650"} ! Autosomal dominant inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -145318,7 +145599,7 @@ xref: SCTID:77381001 {source="DOID:8584", source="EFO:0000309"} xref: UMLS:C0006413 {source="MONDO:equivalentTo", source="MEDGEN:2377", source="MONDO:MEDGEN"} is_a: MONDO:0004949 {source="DOID:8584", source="EFO:0000309", source="NCIT:C2912/inferred", source="ONCOTREE:BL"} ! neoplasm of mature B-cells is_a: MONDO:0017343 {source="Orphanet:543"} ! Epstein-Barr virus-associated malignant lymphoproliferative disorder -is_a: MONDO:0017595 {source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma +is_a: MONDO:0017595 {source="NCIT:C2912", source="Orphanet:543"} ! aggressive B-cell non-Hodgkin lymphoma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7553 {source="MONDO:mim2gene_medgen"} ! MYC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -145591,7 +145872,7 @@ xref: Orphanet:376 {source="MONDO:equivalentTo", source="OMIM:114300"} xref: SCTID:237850008 {source="MONDO:equivalentTo"} xref: UMLS:C0220666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66314"} is_a: MONDO:0015161 {source="Orphanet:376"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019942 {source="DC-OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:114300", source="DOID:0111607", source="OMIM:114300", source="Orphanet:376"} ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26270 {source="MONDO:mim2gene_medgen"} ! PIEZO2 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome" xsd:anyURI {source="GARD:0002553"} @@ -145845,7 +146126,7 @@ synonym: "Cfcs" RELATED [OMIM:115150] xref: DOID:0111460 {source="MONDO:equivalentTo"} xref: OMIM:115150 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:115150"} -is_a: MONDO:0015280 {source="DC-OMIM:115150", source="MONDO:Redundant", source="OMIM:115150"} ! cardiofaciocutaneous syndrome +is_a: MONDO:0015280 {source="DC-OMIM:115150", source="DOID:0111460", source="MONDO:Redundant", source="OMIM:115150"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 {source="MONDO:mim2gene_medgen"} ! BRAF @@ -145877,7 +146158,7 @@ xref: OMIM:115195 {source="MONDO:equivalentTo", source="DOID:0110308"} xref: Orphanet:155 {source="OMIM:115195"} xref: UMLS:C1861864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349383"} is_a: MONDO:0005045 {source="DC-OMIM:115195", source="DOID:0110308", source="MESH:C566171/inferred", source="MONDO:Redundant", source="NCIT:C142892/inferred", source="OMIM:115195"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C566171", source="MONDO:OMIM", source="NCIT:C142892", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110308", source="MESH:C566171", source="MONDO:OMIM", source="NCIT:C142892", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 ! TNNT2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11949 {source="MONDO:mim2gene_medgen"} ! TNNT2 @@ -145906,7 +146187,7 @@ xref: OMIM:115196 {source="DOID:0110309", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:115196"} xref: UMLS:C1861863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349382"} is_a: MONDO:0005045 {source="DC-OMIM:115196", source="DOID:0110309", source="MESH:C566170/inferred", source="MONDO:Redundant", source="OMIM:115196"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C566170", source="MONDO:OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110309", source="MESH:C566170", source="MONDO:OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 ! TPM1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12010 {source="MONDO:mim2gene_medgen"} ! TPM1 @@ -145938,7 +146219,7 @@ xref: OMIM:115197 {source="MONDO:equivalentTo", source="DOID:0110310"} xref: Orphanet:155 {source="OMIM:115197"} xref: UMLS:C1861862 {source="MEDGEN:350526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:115197", source="DOID:0110310", source="MESH:C566169/inferred", source="MONDO:Redundant", source="NCIT:C133725", source="NCIT:C133725/inferred", source="OMIM:115197"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C566169", source="MONDO:OMIM", source="NCIT:C133725", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110310", source="MESH:C566169", source="MONDO:OMIM", source="NCIT:C133725", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 ! MYBPC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7551 {source="MONDO:mim2gene_medgen"} ! MYBPC3 @@ -146882,7 +147163,7 @@ xref: OMIM:117650 {source="Orphanet:1393/e", source="MONDO:equivalentTo", source xref: Orphanet:1393 {source="OMIM:117650", source="MONDO:equivalentTo"} xref: SCTID:51780007 {source="MONDO:equivalentTo"} xref: UMLS:C0265342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120537"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111248", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0015160 {source="Orphanet:1393"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia @@ -146969,7 +147250,7 @@ xref: NORD:1336 {source="MONDO:NORD"} xref: OMIM:118100 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:118100"} xref: UMLS:C1861689 {source="MEDGEN:396196", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001029 {source="MESH:C536887", source="MONDO:Redundant", source="OMIM:118100"} ! Klippel-Feil syndrome +is_a: MONDO:0001029 {source="DOID:0080589", source="MESH:C536887", source="MONDO:Redundant", source="OMIM:118100"} ! Klippel-Feil syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 {source="MONDO:mim2gene_medgen"} ! GDF6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -147433,6 +147714,7 @@ xref: MESH:C563248 {source="MONDO:equivalentTo"} xref: OMIM:118650 {source="Orphanet:79344/e", source="MONDO:equivalentTo", source="DOID:0060293", source="Orphanet:79344"} xref: Orphanet:79344 {source="GARD:0001298", source="OMIM:118650", source="MONDO:equivalentObsolete", source="DOID:0060293"} xref: UMLS:C1442935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:303176"} +is_a: MONDO:0000426 {source="DOID:0060293"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0015775 {source="Orphanet:79344"} ! non-rhizomelic chondrodysplasia punctata intersection_of: MONDO:0019701 ! chondrodysplasia punctata @@ -147518,7 +147800,7 @@ xref: MESH:C566126 {source="MONDO:equivalentTo"} xref: OMIM:118830 {source="MONDO:equivalentTo"} xref: Orphanet:411 {source="MONDO:relatedTo", source="OMIM:118830"} xref: UMLS:C1861560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348391"} -is_a: MONDO:0018637 {source="Orphanet:444490/btnt"} ! familial chylomicronemia syndrome +is_a: MONDO:0018637 {source="DOID:0111419", source="Orphanet:444490/btnt"} ! familial chylomicronemia syndrome [Term] id: MONDO:0007328 @@ -147585,7 +147867,7 @@ xref: Orphanet:66630 {source="OMIM:118980", source="MONDO:equivalentTo"} xref: SCTID:70794004 {source="MONDO:equivalentTo"} xref: UMLS:C0265565 {source="MEDGEN:75577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0018234 {source="PMID:35204869", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis +is_a: MONDO:0018234 {source="Orphanet:66630", source="PMID:35204869", source="https://orcid.org/0009-0001-6494-4831"} ! dysostosis is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -147709,7 +147991,7 @@ xref: NCIT:C124838 {source="MONDO:equivalentTo"} xref: OMIM:119530 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:119530"} xref: UMLS:C1861537 {source="MEDGEN:349303", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:119530"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080395", source="MONDO:Redundant", source="OMIM:119530"} ! orofacial cleft relationship: has_characteristic MONDO:0021128 ! has an isolated presentation property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -148196,7 +148478,7 @@ xref: Orphanet:1475 {source="MONDO:equivalentTo", source="OMIM:120330", source=" xref: SCTID:446449009 {source="MONDO:equivalentTo"} xref: UMLS:C1852759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339002"} is_a: MONDO:0000426 {source="DOID:0090006", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123230", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0090006", source="MONDO:Redundant", source="NCIT:C123230", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:120330", source="Orphanet:1475"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8616 {source="MONDO:mim2gene_medgen"} ! PAX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -148384,7 +148666,7 @@ xref: MESH:C565171 {source="MONDO:equivalentTo"} xref: OMIM:120502 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:120502"} xref: UMLS:C1852718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377737"} -is_a: MONDO:0018878 {source="DC-OMIM:120502"} ! branchiootic syndrome +is_a: MONDO:0018878 {source="DC-OMIM:120502", source="OMIM:120502"} ! branchiootic syndrome [Term] id: MONDO:0007361 @@ -148437,7 +148719,7 @@ xref: OMIM:120970 {source="MONDO:equivalentTo", source="DOID:0111005"} xref: Orphanet:1872 {source="OMIM:120970"} xref: SCTID:80328002 {source="MONDO:equivalentTo"} xref: UMLS:C3489532 {source="MEDGEN:483485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:120970", source="DOID:0111005", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:120970", source="DOID:0111005", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:120970"} ! cone-rod dystrophy is_a: MONDO:0019200 {source="OMIM:120970"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2383 ! CRX @@ -148482,7 +148764,7 @@ xref: SCTID:205821003 {source="MONDO:equivalentTo"} xref: UMLS:C0220668 {source="MEDGEN:67391", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0008779 {source="NCIT:C129865"} ! arthrogryposis is_a: MONDO:0017310 {source="Orphanet:115"} ! Marfan and Marfan-related disorder -is_a: MONDO:0019942 {source="DC-OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:121050", source="DOID:0111595", source="OMIM:121050", source="Orphanet:115"} ! distal arthrogryposis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3604 {source="MONDO:mim2gene_medgen"} ! FBN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -148568,7 +148850,7 @@ xref: MESH:C565162 {source="MONDO:equivalentTo"} xref: OMIM:121210 {source="MONDO:equivalentTo"} xref: SCTID:230432008 {source="MONDO:equivalentTo"} xref: UMLS:C1852577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338959"} -is_a: MONDO:0000032 {source="DC-OMIM:121210", source="OMIM:121210"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:121210", source="DOID:0111307", source="OMIM:121210"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -149108,7 +149390,7 @@ xref: OMIM:122470 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:122470"} xref: SCTID:40354009 {source="MONDO:equivalentTo"} xref: UMLS:C4551851 {source="MEDGEN:1645760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016033 {source="DC-OMIM:122470", source="MONDO:Redundant", source="OMIM:122470"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DC-OMIM:122470", source="DOID:0080505", source="MONDO:Redundant", source="OMIM:122470"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28862 ! NIPBL @@ -149165,7 +149447,7 @@ xref: NORD:1915 {source="MONDO:NORD"} xref: OMIM:122600 {source="MONDO:equivalentTo"} xref: Orphanet:1797 {source="MONDO:relatedTo", source="OMIM:122600"} xref: UMLS:C4083048 {source="MONDO:equivalentTo", source="MEDGEN:901825", source="MONDO:MEDGEN"} -is_a: MONDO:0000359 {source="DC-OMIM:122600", source="MONDO:Redundant", source="OMIM:122600"} ! spondylocostal dysostosis +is_a: MONDO:0000359 {source="DC-OMIM:122600", source="DOID:0112363", source="MONDO:Redundant", source="OMIM:122600"} ! spondylocostal dysostosis intersection_of: MONDO:0000359 ! spondylocostal dysostosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 ! TBX6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11605 {source="MONDO:mim2gene_medgen"} ! TBX6 @@ -149325,7 +149607,7 @@ xref: MESH:C565145 {source="MONDO:equivalentTo"} xref: OMIM:123000 {source="MONDO:equivalentTo"} xref: Orphanet:1522 {source="OMIM:123000"} xref: UMLS:C1852502 {source="MEDGEN:338945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015465 {source="DC-OMIM:123000"} ! craniometaphyseal dysplasia +is_a: MONDO:0015465 {source="DC-OMIM:123000", source="DOID:0080801", source="OMIM:123000"} ! craniometaphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15492 {source="MONDO:mim2gene_medgen"} ! ANKH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -149543,7 +149825,7 @@ xref: Orphanet:281 {source="OMIM:123450", source="MONDO:equivalentTo"} xref: SCTID:70173007 {source="DOID:12580", source="MONDO:equivalentTo"} xref: UMLS:C0010314 {source="MEDGEN:41345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000761 {source="DOID:12580"} ! syndrome caused by partial chromosomal deletion -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34518", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:12580", source="MONDO:Redundant", source="NCIT:C34518", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0016887 {source="Orphanet:281"} ! partial deletion of the short arm of chromosome 5 relationship: disease_has_feature HP:0000486 ! Strabismus relationship: excluded_subClassOf MONDO:0020226 {source="Orphanet:281", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete chromosomal anomaly with cataract @@ -149698,7 +149980,7 @@ xref: OMIM:123570 {source="Orphanet:91396", source="MONDO:equivalentTo", source= xref: Orphanet:91396 {source="OMIM:123570", source="MONDO:equivalentTo"} xref: SCTID:718691008 {source="MONDO:equivalentTo"} xref: UMLS:C1852453 {source="MEDGEN:342242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020153 {source="MONDO:Redundant", source="Orphanet:91396"} ! cryptophthalmia +is_a: MONDO:0020153 {source="DOID:0111717", source="MONDO:Redundant", source="Orphanet:91396"} ! cryptophthalmia intersection_of: MONDO:0020153 ! cryptophthalmia intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation @@ -149867,7 +150149,7 @@ xref: UMLS:C3541471 {source="MEDGEN:762097", source="MONDO:equivalentTo", source is_a: MONDO:0000066 {source="DC-OMIM:124000", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0004069 {source="DOID:0080111/inferred", source="MESH:C565128", source="MONDO:Redundant", source="MONDO:indirect"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0015448 {source="DOID:0080111", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:124000", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 ! BCS1L relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1020 {source="MONDO:mim2gene_medgen"} ! BCS1L @@ -149998,7 +150280,7 @@ xref: Orphanet:3231 {source="OMIM:124480"} xref: Orphanet:79499 {source="OMIM:124480", source="MONDO:equivalentTo"} xref: UMLS:C2675730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382676"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080720", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/854 {source="MONDO:mim2gene_medgen"} ! ATP6V1B2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -150558,7 +150840,7 @@ xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"} xref: SCTID:239088003 {source="MONDO:equivalentTo"} xref: UMLS:C0406778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98037"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111342", source="Orphanet:86920"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:86920"} ! hyperpigmentation of the skin relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis" xsd:anyURI {source="GARD:0008550"} @@ -150730,9 +151012,10 @@ xref: SCTID:267393007 {source="DOID:12388"} xref: SCTID:45369008 {source="MONDO:equivalentTo", source="DOID:12388"} xref: SCTID:64410003 {source="DOID:12388"} xref: UMLS:C0342394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:574999"} +is_a: MONDO:0000426 {source="DOID:12388"} ! autosomal dominant disease is_a: MONDO:0003381 {source="DOID:12388", source="MONDO:Redundant"} ! pituitary gland disorder is_a: MONDO:0004782 {source="DC-OMIM:125700", source="DOID:12388", source="MONDO:Redundant", source="NCIT:C84933"} ! diabetes insipidus -is_a: MONDO:0015790 {source="Orphanet:30925"} ! central diabetes insipidus +is_a: MONDO:0015790 {source="DOID:12388", source="Orphanet:30925"} ! central diabetes insipidus intersection_of: MONDO:0004782 ! diabetes insipidus intersection_of: disease_has_location UBERON:0000007 ! pituitary gland relationship: has_characteristic HP:0000006 {source="OMIM:125700"} ! Autosomal dominant inheritance @@ -150755,7 +151038,7 @@ xref: OMIM:125800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="OMIM:125800"} xref: UMLS:C1563706 {source="MEDGEN:289643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004782 {source="DC-OMIM:125800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus -is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus +is_a: MONDO:0016383 {source="DOID:0081061", source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/634 {source="MONDO:mim2gene_medgen"} ! AQP2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -151138,7 +151421,7 @@ xref: MESH:C563034 {source="MONDO:equivalentTo"} xref: OMIM:126700 {source="MONDO:equivalentTo", source="DOID:0060746"} xref: Orphanet:75376 {source="OMIM:126700", source="DOID:0060746"} xref: UMLS:C0730295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152676"} -is_a: MONDO:0006949 {source="PMID:18252232", source="https://orcid.org/0000-0002-6601-2165"} ! retinal drusen +is_a: MONDO:0006949 {source="DOID:0060746", source="PMID:18252232", source="https://orcid.org/0000-0002-6601-2165"} ! retinal drusen intersection_of: MONDO:0006949 ! retinal drusen intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4883 ! CFH @@ -151269,7 +151552,7 @@ xref: Orphanet:2616 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: Orphanet:2661 {source="OMIM:126950"} xref: SCTID:702342007 {source="DOID:0060241", source="MONDO:equivalentTo"} xref: UMLS:C1848862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336440"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060241", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060241", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:2616"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_characteristic HP:0000007 {source="Orphanet:2616"} ! Autosomal recessive inheritance @@ -151302,8 +151585,9 @@ xref: OMIM:127000 {source="MONDO:equivalentTo", source="Orphanet:93325", source= xref: Orphanet:2333 {source="OMIM:127000"} xref: Orphanet:93325 {source="OMIM:127000", source="MONDO:equivalentTo", source="GARD:0000083"} xref: UMLS:C4316787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373312"} +is_a: MONDO:0000426 {source="DOID:0080723"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130993"} ! syndromic disease -is_a: MONDO:0016516 {source="DC-OMIM:127000", source="MONDO:Redundant", source="OMIM:127000", source="Orphanet:93325"} ! Kenny-Caffey syndrome +is_a: MONDO:0016516 {source="DC-OMIM:127000", source="DOID:0080723", source="MONDO:Redundant", source="OMIM:127000", source="Orphanet:93325"} ! Kenny-Caffey syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -152013,7 +152297,7 @@ is_a: MONDO:0000358 {source="DC-OMIM:129400", source="OMIM:129400"} ! orofacial is_a: MONDO:0000426 {source="DOID:0060330", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0004747 {source="MESH:C535289"} ! cleft lip is_a: MONDO:0016064 {source="MESH:C535289"} ! cleft palate -is_a: MONDO:0019287 {source="MESH:C535289"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0060330", source="MESH:C535289"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:129400"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15979 {source="MONDO:mim2gene_medgen"} ! TP63 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome" xsd:anyURI {source="GARD:0005690"} @@ -152079,7 +152363,7 @@ xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"} xref: SCTID:54209007 {source="MONDO:equivalentTo", source="DOID:14693"} xref: UMLS:C0162361 {source="MEDGEN:56416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -is_a: MONDO:0019287 {source="OMIM:129500", source="Orphanet:189"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:14693", source="OMIM:129500", source="Orphanet:189"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_disruption_of GO:0005243 {source="https://ghr.nlm.nih.gov/condition/clouston-syndrome#genes"} ! gap junction channel activity relationship: disease_has_feature HP:0007447 ! Diffuse palmoplantar hyperkeratosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4288 {source="MONDO:mim2gene_medgen"} ! GJB6 @@ -152378,6 +152662,7 @@ xref: MEDGEN:541286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:130050 {source="DOID:14756", source="MONDO:equivalentTo"} xref: Orphanet:286 {source="OMIM:130050"} xref: UMLS:C0268339 {source="MEDGEN:541286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:14756"} ! autosomal dominant disease is_a: MONDO:0017314 {source="MONDO:Redundant", source="MONDO:pr", source="Orphanet:286"} ! Ehlers-Danlos syndrome, vascular type intersection_of: MONDO:0017314 ! Ehlers-Danlos syndrome, vascular type intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -152425,7 +152710,7 @@ xref: Orphanet:99875 {source="OMIM:130060"} xref: Orphanet:99876 {source="OMIM:130060"} xref: SCTID:4170004 {source="MONDO:equivalentTo"} xref: UMLS:C4551623 {source="MEDGEN:1645042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020066 {source="DC-OMIM:130060", source="MESH:C562625", source="NCIT:C125701", source="OMIM:130060", source="Orphanet:1899"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DC-OMIM:130060", source="DOID:0080727", source="MESH:C562625", source="NCIT:C125701", source="OMIM:130060", source="Orphanet:1899"} ! Ehlers-Danlos syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome" xsd:anyURI {source="GARD:0002084"} [Term] @@ -152834,7 +153119,7 @@ xref: SCTID:30664006 {source="DOID:10017", source="MONDO:equivalentTo"} xref: UMLS:C0025267 {source="MEDGEN:9957", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:10017", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0016365 {source="Orphanet:652"} ! familial primary hyperparathyroidism -is_a: MONDO:0017169 {source="DC-OMIM:131100", source="MONDO:Redundant", source="NCIT:C3225", source="OMIM:131100", source="Orphanet:652"} ! multiple endocrine neoplasia +is_a: MONDO:0017169 {source="DC-OMIM:131100", source="DOID:10017", source="MONDO:Redundant", source="NCIT:C3225", source="OMIM:131100", source="Orphanet:652"} ! multiple endocrine neoplasia is_a: MONDO:0021227 {source="Orphanet:652"} ! adrenal gland neoplasm intersection_of: MONDO:0017169 ! multiple endocrine neoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7010 ! MEN1 @@ -153010,7 +153295,7 @@ xref: MESH:C536979 {source="Orphanet:79411/e", source="MONDO:equivalentTo", sour xref: OMIM:131705 {source="Orphanet:79411/e", source="MONDO:equivalentTo", source="Orphanet:79411"} xref: Orphanet:79411 {source="OMIM:131705", source="MONDO:equivalentTo"} xref: UMLS:C1851573 {source="MEDGEN:343607", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006543 {source="Orphanet:79411"} ! epidermolysis bullosa dystrophica +is_a: MONDO:0006543 {source="DOID:0111345", source="Orphanet:79411"} ! epidermolysis bullosa dystrophica relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn" xsd:anyURI {source="GARD:0010010"} @@ -153092,7 +153377,7 @@ xref: OMIM:131760 {source="Orphanet:79396/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79396 {source="MONDO:equivalentTo", source="OMIM:131760", source="DOID:0060735"} xref: SCTID:254179000 {source="MONDO:equivalentTo"} xref: UMLS:C0079295 {source="MEDGEN:38194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="DOID:0060735", source="OMIM:131760", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type" xsd:anyURI {source="GARD:0002141"} @@ -153128,7 +153413,7 @@ xref: OMIM:131800 {source="Orphanet:79400/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79400 {source="OMIM:131800", source="MONDO:equivalentTo"} xref: SCTID:294705005 {source="MONDO:equivalentTo"} xref: UMLS:C0080333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87016"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="DOID:0080510", source="OMIM:131800", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized" xsd:anyURI {source="GARD:0002146"} @@ -153159,7 +153444,7 @@ xref: OMIM:131850 {source="Orphanet:79410/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"} xref: SCTID:67653003 {source="MONDO:equivalentTo"} xref: UMLS:C0432321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98154"} -is_a: MONDO:0006543 {source="DC-OMIM:131850", source="MESH:C535494", source="Orphanet:79410"} ! epidermolysis bullosa dystrophica +is_a: MONDO:0006543 {source="DC-OMIM:131850", source="DOID:0080988", source="MESH:C535494", source="Orphanet:79410"} ! epidermolysis bullosa dystrophica relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 [Term] @@ -153213,7 +153498,7 @@ xref: OMIM:131900 {source="Orphanet:79399/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79399 {source="OMIM:131900", source="MONDO:equivalentTo"} xref: SCTID:90496008 {source="MONDO:equivalentTo"} xref: UMLS:C5561924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794134"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="DOID:0080511", source="OMIM:131900", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -153242,7 +153527,7 @@ xref: OMIM:131950 {source="Orphanet:79401/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79401 {source="MONDO:equivalentTo", source="DOID:0060736", source="OMIM:131950"} xref: SCTID:398071000 {source="MONDO:equivalentTo"} xref: UMLS:C0432317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98488"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="DOID:0060736", source="OMIM:131950", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -153275,7 +153560,7 @@ xref: OMIM:131960 {source="Orphanet:79397/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79397 {source="MONDO:equivalentTo", source="OMIM:131960"} xref: SCTID:254180002 {source="MONDO:equivalentTo"} xref: UMLS:C0432316 {source="MEDGEN:140934", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="DOID:0111346", source="OMIM:131960", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -153391,7 +153676,7 @@ xref: OMIM:132400 {source="Orphanet:93308/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93308 {source="MONDO:equivalentTo", source="OMIM:132400"} xref: SCTID:715673002 {source="MONDO:equivalentTo"} xref: UMLS:C1838280 {source="MEDGEN:325376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016648 {source="DC-OMIM:132400", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308"} ! multiple epiphyseal dysplasia +is_a: MONDO:0016648 {source="DC-OMIM:132400", source="DOID:0070303", source="MONDO:Redundant", source="OMIM:132400", source="Orphanet:93308"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 ! COMP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2227 {source="MONDO:mim2gene_medgen"} ! COMP @@ -154022,7 +154307,7 @@ xref: NCIT:C18252 {source="MONDO:equivalentTo"} xref: OMIM:133701 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:133701"} xref: UMLS:C1851413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377018"} -is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant"} ! hereditary multiple osteochondromas +is_a: MONDO:0005508 {source="DC-OMIM:133701", source="MONDO:Redundant", source="OMIM:133701"} ! hereditary multiple osteochondromas intersection_of: MONDO:0005508 ! hereditary multiple osteochondromas intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 ! EXT2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3513 {source="MONDO:mim2gene_medgen"} ! EXT2 @@ -154096,7 +154381,7 @@ xref: OMIM:133780 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:133780"} xref: Orphanet:90050 {source="MONDO:relatedTo", source="OMIM:133780"} xref: UMLS:C1851402 {source="MEDGEN:343561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019516 {source="DC-OMIM:133780", source="OMIM:133780"} ! exudative vitreoretinopathy +is_a: MONDO:0019516 {source="DC-OMIM:133780", source="DOID:0111412", source="OMIM:133780"} ! exudative vitreoretinopathy [Term] id: MONDO:0007590 @@ -154729,7 +155014,7 @@ xref: OMIM:609943 {source="MONDO:equivalentObsolete"} xref: OMIM:614562 {source="MONDO:equivalentObsolete"} xref: Orphanet:1465 {source="OMIM:614562"} xref: UMLS:C3281201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482831"} -is_a: MONDO:0015452 {source="DC-OMIM:135900", source="OMIM:135900", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:135900", source="DOID:0070042", source="OMIM:135900", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070042", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -155048,7 +155333,7 @@ xref: OMIM:136550 {source="MONDO:equivalentTo", source="Orphanet:75327", source= xref: Orphanet:75327 {source="OMIM:136550", source="MONDO:equivalentTo"} xref: SCTID:312925009 {source="MONDO:equivalentTo"} xref: UMLS:C0730294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:147590"} -is_a: MONDO:0031166 {source="MONDO:0020243-obsoleted", source="OMIM:136550", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! macular dystrophy, retinal +is_a: MONDO:0031166 {source="DOID:0070439", source="MONDO:0020243-obsoleted", source="OMIM:136550", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! macular dystrophy, retinal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy" xsd:anyURI {source="GARD:0009179"} @@ -155142,7 +155427,7 @@ xref: Orphanet:347 {source="OMIM:136680", source="MONDO:equivalentTo"} xref: SCTID:445431000 {source="MONDO:equivalentTo", source="DOID:0050438"} xref: UMLS:C0950122 {source="MEDGEN:215533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0050438", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C122805", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050438", source="MONDO:Redundant", source="NCIT:C122805", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development @@ -155184,7 +155469,7 @@ xref: NCIT:C129028 {source="MONDO:equivalentTo"} xref: OMIM:136760 {source="MONDO:equivalentTo", source="Orphanet:391474", source="Orphanet:391474/e"} xref: Orphanet:391474 {source="OMIM:136760", source="MONDO:equivalentTo"} xref: UMLS:C5574965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803615"} -is_a: MONDO:0016643 {source="DC-OMIM:136760", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia +is_a: MONDO:0016643 {source="DC-OMIM:136760", source="DOID:0081045", source="OMIM:136760", source="Orphanet:391474"} ! frontonasal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/449 {source="MONDO:mim2gene_medgen"} ! ALX3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -155498,7 +155783,7 @@ xref: SCTID:277622004 {source="MONDO:equivalentTo"} xref: UMLS:C0242647 {source="MEDGEN:66942", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Wikipedia:MALT_lymphoma {source="EFO:0000191"} is_a: MONDO:0004949 {source="EFO:0000191", source="NCIT:C3898/inferred", source="ONCOTREE:EMALT/inferred"} ! neoplasm of mature B-cells -is_a: MONDO:0017604 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417"} ! marginal zone lymphoma +is_a: MONDO:0017604 {source="DOID:0050909", source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417"} ! marginal zone lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001961 ! mucosa-associated lymphoid tissue relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/989 {source="MONDO:mim2gene_medgen"} ! BCL10 @@ -156045,7 +156330,7 @@ xref: OMIMPS:137950 {source="MONDO:equivalentTo"} xref: Orphanet:84090 {source="MONDO:equivalentTo", source="OMIM:137950", source="GARD:0009268"} xref: SCTID:236535001 {source="MONDO:equivalentTo"} xref: UMLS:C3888104 {source="MEDGEN:854773", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder +is_a: MONDO:0019722 {source="Orphanet:84090", source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder relationship: has_characteristic MONDO:0021152 {source="OMIMPS:137950"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1" xsd:anyURI {source="GARD:0009268"} @@ -156346,7 +156631,7 @@ xref: OMIM:139090 {source="Orphanet:721", source="MONDO:equivalentTo", source="O xref: Orphanet:721 {source="MONDO:equivalentTo", source="OMIM:139090"} xref: SCTID:51720005 {source="MONDO:equivalentTo"} xref: UMLS:C0272302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82900"} -is_a: MONDO:0000009 {source="DC-OMIM:139090", source="MONDO:Redundant", source="OMIM:139090"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:139090", source="DOID:0111044", source="MONDO:Redundant", source="OMIM:139090"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002254 {source="NCIT:C84741"} ! syndromic disease is_a: MONDO:0020117 {source="Orphanet:721"} ! alpha granule disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31928 {source="MONDO:mim2gene_medgen"} ! NBEAL2 @@ -156446,6 +156731,7 @@ xref: OMIM:139300 {source="DOID:0090122", source="Orphanet:178345", source="MOND xref: Orphanet:178345 {source="OMIM:139300", source="DOID:0090122", source="MONDO:equivalentTo"} xref: SCTID:709075008 {source="MONDO:equivalentTo"} xref: UMLS:C1970109 {source="MEDGEN:409989", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005039 {source="DOID:0090122"} ! reproductive system disorder is_a: MONDO:0019052 {source="MESH:C000591739"} ! inborn errors of metabolism relationship: disease_has_basis_in_disruption_of GO:0070330 ! aromatase activity relationship: disease_has_feature MONDO:0015791 {source="Orphanet:178345"} ! peripheral precocious puberty @@ -156622,7 +156908,7 @@ xref: SCTID:702425002 {source="MONDO:equivalentTo"} xref: UMLS:C1841679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331103"} is_a: MONDO:0000426 {source="DOID:0060739", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060739", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0015161 {source="Orphanet:2438"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis @@ -156908,7 +157194,7 @@ synonym: "thin membrane nephropathy" RELATED [OMIM:141200] synonym: "thin-basement-membrane nephropathy" RELATED [OMIM:141200] xref: OMIM:141200 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0957317 {source="OMIMPS:141200"} ! hematuria, benign familial +is_a: MONDO:0957317 {source="OMIM:141200", source="OMIMPS:141200"} ! hematuria, benign familial relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2204 {source="MONDO:mim2gene_medgen"} ! COL4A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -157132,7 +157418,7 @@ xref: MEDGEN:374515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564190 {source="MONDO:equivalentTo"} xref: OMIM:142330 {source="MONDO:equivalentTo"} xref: UMLS:C1840646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374515"} -is_a: MONDO:0018902 ! hepatocellular adenoma +is_a: MONDO:0018902 {source="DOID:0111366"} ! hepatocellular adenoma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11621 {source="MONDO:mim2gene_medgen"} ! HNF1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -157395,7 +157681,7 @@ xref: DOID:0060931 {source="MONDO:equivalentTo"} xref: MEDGEN:266288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142700 {source="MONDO:equivalentTo"} xref: UMLS:C1306065 {source="MEDGEN:266288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000158 {source="DC-OMIM:142700", source="OMIM:142700"} ! developmental dysplasia of the hip +is_a: MONDO:0000158 {source="DC-OMIM:142700", source="DOID:0060931", source="OMIM:142700"} ! developmental dysplasia of the hip is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -157869,6 +158155,7 @@ xref: Orphanet:542657 {source="MONDO:equivalentTo"} xref: SCTID:709413001 {source="MONDO:equivalentTo"} xref: UMLS:C1840437 {source="MEDGEN:333560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:143860/inferred"} ! hereditary disease +is_a: MONDO:0006025 {source="DOID:0111371"} ! autosomal recessive disease is_a: MONDO:0021026 {source="Orphanet:542657"} ! hereditary epidermal appendage anomaly relationship: has_characteristic HP:0000007 {source="Orphanet:542657"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1371 {source="MONDO:mim2gene_medgen", source="Orphanet:542657"} ! CA12 @@ -157933,7 +158220,7 @@ xref: Orphanet:391665 {source="OMIM:143890"} xref: Orphanet:406 {source="OMIM:143890"} xref: SCTID:398036000 {source="MONDO:equivalentTo"} xref: UMLS:C0745103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:152875"} -is_a: MONDO:0005439 {source="DC-OMIM:143890", source="https://orcid.org/0000-0002-6601-2165"} ! familial hypercholesterolemia +is_a: MONDO:0005439 {source="DC-OMIM:143890", source="OMIM:143890", source="https://orcid.org/0000-0002-6601-2165"} ! familial hypercholesterolemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -157955,7 +158242,7 @@ xref: OMIM:144010 {source="MONDO:equivalentTo"} xref: Orphanet:406 {source="OMIM:144010"} xref: SCTID:238081000 {source="MONDO:equivalentTo"} xref: UMLS:C1704417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309962"} -is_a: MONDO:0005439 {source="DC-OMIM:144010"} ! familial hypercholesterolemia +is_a: MONDO:0005439 {source="DC-OMIM:144010", source="OMIM:144010"} ! familial hypercholesterolemia intersection_of: MONDO:0005439 ! familial hypercholesterolemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 ! APOB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/603 {source="MONDO:mim2gene_medgen"} ! APOB @@ -158298,7 +158585,7 @@ xref: Orphanet:2790 {source="MONDO:equivalentTo", source="OMIM:144750"} xref: Orphanet:3416 {source="OMIM:607636"} xref: SCTID:254131007 {source="MONDO:equivalentTo"} xref: UMLS:C0432273 {source="MEDGEN:140932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002185 ! hyperostosis +is_a: MONDO:0002185 {source="DOID:0080037"} ! hyperostosis is_a: MONDO:0005381 {source="Orphanet:2790", source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: disease_has_feature HP:0011001 {source="Orphanet:2790"} ! Increased bone mineral density @@ -158747,7 +159034,7 @@ xref: OMIM:145650 {source="MONDO:equivalentTo", source="Orphanet:165994", source xref: Orphanet:165994 {source="MONDO:equivalentObsolete", source="OMIM:145650"} xref: UMLS:C1840364 {source="MONDO:equivalentTo", source="MEDGEN:333543", source="MONDO:MEDGEN"} is_a: MONDO:0001328 {source="DC-OMIM:145650", source="PMID:8475937", source="https://orcid.org/0000-0002-6601-2165"} ! thyroid hormone resistance syndrome -is_a: MONDO:0004425 {source="Orphanet:165994"} ! hyperthyroidism +is_a: MONDO:0004425 {source="DOID:0111374", source="Orphanet:165994"} ! hyperthyroidism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11799 {source="MONDO:mim2gene_medgen"} ! THRB @@ -159064,7 +159351,7 @@ xref: Orphanet:189466 {source="OMIM:146200"} xref: Orphanet:2238 {source="GARD:0002910", source="OMIM:146200"} xref: SCTID:237657009 {source="MONDO:equivalentTo"} xref: UMLS:C5241444 {source="MEDGEN:1713884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016390 {source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism +is_a: MONDO:0016390 {source="OMIM:146200", source="Orphanet:2238/btnt", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism intersection_of: MONDO:0016390 ! familial hypoparathyroidism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9606 ! PTH @@ -159294,7 +159581,7 @@ xref: OMIM:146510 {source="DOID:9248", source="Orphanet:672/e", source="MONDO:eq xref: Orphanet:672 {source="MONDO:equivalentTo", source="OMIM:146510"} xref: SCTID:56677004 {source="DOID:9248", source="MONDO:equivalentTo"} xref: UMLS:C0265220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120514"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84987"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:9248", source="MONDO:Redundant", source="NCIT:C84987"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:672"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism @@ -159634,10 +159921,11 @@ xref: OMIM:147060 {source="GARD:0006800", source="EFO:0003775", source="MONDO:eq xref: Orphanet:2314 {source="GARD:0006800", source="MONDO:equivalentTo", source="OMIM:147060"} xref: SCTID:50926003 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: UMLS:C4721531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648470"} +is_a: MONDO:0000426 {source="DOID:3261"} ! autosomal dominant disease is_a: MONDO:0002468 {source="DOID:3261", source="NCIT:C126342/inferred"} ! hyperimmunoglobulin syndrome is_a: MONDO:0003778 {source="DC-OMIM:146840", source="MESH:C564135"} ! inborn error of immunity is_a: MONDO:0003847 {source="OMIM:147060"} ! hereditary disease -is_a: MONDO:0018037 {source="MONDO:Redundant", source="Orphanet:2314"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="DOID:3261", source="MONDO:Redundant", source="OMIM:147060", source="Orphanet:2314"} ! hyper-IgE syndrome intersection_of: MONDO:0018037 {source="MONDO:mim2gene_medgen"} ! hyper-IgE syndrome intersection_of: has_characteristic HP:0000006 {source="MONDO:mim2gene_medgen"} ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11364 {source="MONDO:mim2gene_medgen"} ! STAT3 @@ -159847,7 +160135,7 @@ xref: MEDGEN:762759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:147480 {source="MONDO:equivalentTo"} xref: Orphanet:69665 {source="OMIM:147480"} xref: UMLS:C3549845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762759"} -is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy +is_a: MONDO:0100429 {source="DOID:0070228", source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI @@ -160285,8 +160573,8 @@ xref: OMIM:148190 {source="Orphanet:2334", source="MONDO:equivalentTo", source=" xref: Orphanet:2334 {source="MONDO:equivalentTo", source="OMIM:148190"} xref: SCTID:715339004 {source="MONDO:equivalentTo"} xref: UMLS:C1835698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332039"} -is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0003085 {source="MESH:C537022", source="MONDO:Redundant"} ! keratitis +is_a: MONDO:0000426 {source="DOID:0111383", source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0003085 {source="DOID:0111383", source="MESH:C537022", source="MONDO:Redundant"} ! keratitis is_a: MONDO:0018102 {source="Orphanet:2334"} ! corneal dystrophy intersection_of: MONDO:0003085 ! keratitis intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -160333,6 +160621,8 @@ xref: MEDGEN:120536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:148210 {source="DOID:0060871", source="MONDO:equivalentTo"} xref: Orphanet:477 {source="DOID:0060871", source="OMIM:148210"} xref: UMLS:C0265336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120536"} +is_a: MONDO:0000426 {source="DOID:0060871"} ! autosomal dominant disease +is_a: MONDO:0018781 {source="OMIM:148210"} ! KID syndrome intersection_of: MONDO:0018781 ! KID syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4284 {source="MONDO:mim2gene_medgen"} ! GJB2 @@ -160493,7 +160783,7 @@ xref: OMIM:148500 {source="GARD:0003102", source="Orphanet:2198", source="MONDO: xref: Orphanet:2198 {source="GARD:0003102", source="MONDO:equivalentTo", source="OMIM:148500"} xref: SCTID:111030006 {source="MONDO:equivalentTo"} xref: UMLS:C1835664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324338"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111506", source="https://orcid.org/0000-0002-3458-4839"} ! syndromic disease is_a: MONDO:0017672 {source="MONDO:0020095-obsoleted"} ! focal palmoplantar keratoderma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20788 {source="MONDO:mim2gene_medgen"} ! RHBDF2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6743" xsd:anyURI @@ -160820,7 +161110,7 @@ xref: OMIM:149300 {source="MONDO:equivalentTo", source="DOID:0080080"} xref: SCTID:66270006 {source="MONDO:equivalentTo"} xref: UMLS:C0266000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75593"} is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease -is_a: MONDO:0019284 {source="DC-OMIM:149300", source="OMIM:149300"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:149300", source="DOID:0080080", source="OMIM:149300"} ! inherited isolated nail anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -160999,7 +161289,7 @@ is_a: MONDO:0000426 {source="DOID:4998", source="MONDO:Redundant"} ! autosomal d is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75118"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:502"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0016907 {source="Orphanet:502"} ! partial deletion of the long arm of chromosome 8 -is_a: MONDO:0017951 {source="Orphanet:502"} ! trichorhinophalangeal syndrome +is_a: MONDO:0017951 {source="OMIM:150230", source="Orphanet:502"} ! trichorhinophalangeal syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia relationship: disease_has_feature HP:0000219 ! Thin upper lip vermilion relationship: disease_has_feature HP:0002209 ! Sparse scalp hair @@ -161115,7 +161405,7 @@ xref: OMIM:150280 {source="Orphanet:2373/e", source="MONDO:equivalentTo", source xref: Orphanet:2373 {source="OMIM:150280", source="MONDO:equivalentTo"} xref: SCTID:253737007 {source="MONDO:equivalentTo"} xref: UMLS:C0264303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120500"} -is_a: MONDO:0004382 {source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder +is_a: MONDO:0004382 {source="DOID:0080833", source="https://orcid.org/0000-0001-5208-3432"} ! laryngeal disorder [Term] id: MONDO:0007879 @@ -161459,7 +161749,7 @@ xref: NORD:1231 {source="MONDO:NORD"} xref: OMIM:150800 {source="Orphanet:523", source="MONDO:equivalentTo", source="Orphanet:523/e"} xref: Orphanet:523 {source="OMIM:150800", source="MONDO:equivalentTo"} xref: UMLS:C1708350 {source="MEDGEN:353771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="NCIT:C51302", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:523", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:523", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic MONDO:0021152 ! inherited @@ -161540,7 +161830,7 @@ xref: MESH:C537115 {source="MONDO:equivalentTo", source="Orphanet:2658", source= xref: OMIM:151050 {source="MONDO:equivalentTo", source="Orphanet:2658", source="Orphanet:2658/e"} xref: Orphanet:2658 {source="OMIM:151050", source="MONDO:equivalentTo"} xref: UMLS:C0432269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98483"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111507", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2658"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: disease_has_feature HP:0011001 {source="Orphanet:2658"} ! Increased bone mineral density @@ -161805,7 +162095,7 @@ xref: OMIM:151600 {source="GARD:0002555", source="MONDO:equivalentTo", source="D xref: Orphanet:2387 {source="OMIM:151600", source="MONDO:directSiblingOf"} xref: SCTID:74102009 {source="MONDO:equivalentTo"} xref: UMLS:C0544855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107463"} -is_a: MONDO:0019284 {source="DC-OMIM:151600", source="MONDO:Redundant", source="OMIM:151600"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:151600", source="DOID:0080081", source="MONDO:Redundant", source="OMIM:151600"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9060 ! PLCD1 relationship: excluded_subClassOf MONDO:0016471 {source="MESH:C537289", source="https://orcid.org/0000-0001-5208-3432"} ! pachyonychia congenita @@ -162205,7 +162495,7 @@ xref: MESH:C537711 {source="MONDO:equivalentTo", source="DOID:0060349", source=" xref: OMIM:152950 {source="MONDO:equivalentTo", source="DOID:0060349", source="Orphanet:2526", source="Orphanet:2526/e"} xref: Orphanet:2526 {source="MONDO:equivalentTo", source="DOID:0060349", source="OMIM:152950"} xref: UMLS:C1835265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320559"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060349", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema is_a: MONDO:0021147 ! disorder of development or morphogenesis @@ -162249,7 +162539,7 @@ xref: OMIM:153100 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:equivalentTo", source="OMIM:153100"} xref: SCTID:399889006 {source="MONDO:equivalentTo"} xref: UMLS:C1704423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:309963"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:153100", source="Orphanet:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="DOID:0070210", source="DOID:0070212", source="MONDO:Redundant", source="OMIM:153100", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 ! FLT4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3767 {source="MONDO:mim2gene_medgen"} ! FLT4 @@ -162353,7 +162643,7 @@ xref: OMIM:153400 {source="Orphanet:33001/e", source="MONDO:equivalentTo", sourc xref: Orphanet:33001 {source="MONDO:equivalentTo", source="OMIM:153400"} xref: SCTID:8634009 {source="MONDO:equivalentTo"} xref: UMLS:C0265345 {source="MEDGEN:75566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128191", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111509", source="MONDO:Redundant", source="NCIT:C128191", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema relationship: disease_has_feature HP:0009743 {source="Orphanet:33001"} ! Distichiasis relationship: excluded_subClassOf MONDO:0020190 {source="Orphanet:33001", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete eyebrow/eyelashes distichiasis @@ -162773,7 +163063,7 @@ xref: OMIM:154230 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:154230"} xref: Orphanet:251510 {source="OMIM:154230"} xref: UMLS:C2752149 {source="MEDGEN:416704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010765 {source="MESH:C567887", source="OMIM:154230", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111771", source="MESH:C567887", source="OMIM:154230", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis is_a: MONDO:0020040 {source="MESH:C567887/inferred", source="MONDO:Redundant", source="NCIT:C132270"} ! 46,XY disorder of sex development property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -162906,7 +163196,7 @@ synonym: "Treacher-Collins syndrome 1" EXACT CLINGEN_LABEL [] synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern] xref: DOID:0080789 {source="MONDO:equivalentTo"} xref: OMIM:154500 {source="Orphanet:861/e", source="MONDO:equivalentTo", source="Orphanet:861"} -is_a: MONDO:0002457 {source="DC-OMIM:154500", source="MONDO:Redundant", source="OMIM:154500"} ! Treacher-Collins syndrome +is_a: MONDO:0002457 {source="DC-OMIM:154500", source="DOID:0080789", source="MONDO:Redundant", source="OMIM:154500"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11654 ! TCOF1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:154500"} ! Autosomal dominant inheritance @@ -163072,7 +163362,7 @@ is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0015161 {source="Orphanet:560"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia -is_a: MONDO:0019287 {source="Orphanet:560"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111510", source="Orphanet:560"} ! ectodermal dysplasia syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -163415,6 +163705,7 @@ xref: Orphanet:404560 {source="OMIM:155600"} xref: Orphanet:618 {source="OMIM:155600"} xref: SCTID:254819008 {source="MONDO:equivalentTo"} xref: UMLS:C1835047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320506"} +is_a: MONDO:0024462 {source="OMIM:155600"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9588 ! PTEN intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -163448,7 +163739,9 @@ xref: NCIT:C7584 {source="MONDO:equivalentTo"} xref: OMIM:155601 {source="MONDO:equivalentTo", source="DOID:10041"} xref: Orphanet:618 {source="OMIM:155601"} xref: UMLS:C1835044 {source="MEDGEN:331891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:10041"} ! autosomal dominant disease is_a: MONDO:0020573 {source="OMIM:155601"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:155601"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1787 ! CDKN2A intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -164106,7 +164399,7 @@ xref: MEDGEN:96881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537575 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} xref: Orphanet:2505 {source="MONDO:equivalentTo", source="OMIM:156610"} xref: UMLS:C0473586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96881"} -is_a: MONDO:0005093 {source="Orphanet:2505", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder +is_a: MONDO:0005093 {source="DOID:0112241", source="Orphanet:2505", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder [Term] id: MONDO:0007991 @@ -164306,7 +164599,7 @@ xref: MEDGEN:854348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:157300 {source="MONDO:equivalentTo"} xref: SCTID:37796009 {source="MONDO:equivalentTo"} xref: UMLS:C3887485 {source="MEDGEN:854348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:157300", source="OMIM:157300/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:157300", source="OMIM:157300", source="OMIM:157300/inferred"} ! migraine with or without aura, susceptibility to property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -164724,7 +165017,7 @@ xref: OMIM:158300 {source="Orphanet:3377", source="MONDO:equivalentTo", source=" xref: Orphanet:3377 {source="MONDO:equivalentTo", source="OMIM:158300"} xref: SCTID:8757006 {source="MONDO:equivalentTo"} xref: UMLS:C0265226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78540"} -is_a: MONDO:0019942 {source="DC-OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:158300", source="DOID:0111603", source="OMIM:158300", source="Orphanet:3377"} ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7578 {source="MONDO:mim2gene_medgen"} ! MYH8 [Term] @@ -164985,7 +165278,7 @@ xref: Orphanet:209341 {source="MONDO:equivalentTo", source="OMIM:158600"} xref: Orphanet:363447 {source="OMIM:158600"} xref: UMLS:C1834690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322470"} is_a: MONDO:0001516 {source="DC-OMIM:158600", source="MESH:C563560/inferred"} ! spinal muscular atrophy -is_a: MONDO:0018190 {source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy +is_a: MONDO:0018190 {source="DOID:0070351", source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy is_a: MONDO:0024237 {source="MESH:C563560/inferred"} ! inherited neurodegenerative disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -165082,7 +165375,7 @@ xref: NCIT:C172704 {source="MONDO:equivalentTo"} xref: OMIM:158900 {source="MONDO:equivalentTo", source="GARD:0009941"} xref: Orphanet:269 {source="OMIM:158900", source="GARD:0009941"} xref: UMLS:C5399970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1727901"} -is_a: MONDO:0001347 {source="DC-OMIM:158900", source="MESH:C536391", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DC-OMIM:158900", source="DOID:0111192", source="MESH:C536391", source="MONDO:Redundant", source="OMIM:158900", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 ! FRG1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3954 {source="MONDO:mim2gene_medgen"} ! FRG1 @@ -165113,7 +165406,7 @@ xref: NCIT:C172705 {source="MONDO:equivalentTo"} xref: OMIM:158901 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="OMIM:158901"} xref: UMLS:C1834671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:320405"} -is_a: MONDO:0001347 {source="DC-OMIM:158901", source="MESH:C563557", source="MONDO:Redundant", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DC-OMIM:158901", source="DOID:0111193", source="MESH:C563557", source="MONDO:Redundant", source="OMIM:158901", source="Orphanet:269/btnt"} ! facioscapulohumeral muscular dystrophy intersection_of: MONDO:0001347 ! facioscapulohumeral muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 ! SMCHD1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29090 {source="MONDO:mim2gene_medgen"} ! SMCHD1 @@ -165404,9 +165697,10 @@ xref: OMIM:159950 {source="Orphanet:2590/e", source="MONDO:equivalentTo", source xref: Orphanet:2590 {source="MONDO:equivalentTo", source="OMIM:159950"} xref: SCTID:703524005 {source="MONDO:equivalentTo"} xref: UMLS:C1834569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371854"} -is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-0736-9199"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DOID:0111527", source="https://orcid.org/0000-0002-0736-9199"} ! spinal muscular atrophy is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder is_a: MONDO:0020128 {source="Orphanet:2590", source="Orphanet:2590/inferred"} ! motor neuron disorder +is_a: MONDO:0024257 {source="Orphanet:2590"} ! hereditary motor neuron disease is_a: MONDO:0100524 {source="https://clinicalgenome.org/affiliation/40110/"} ! ASAH1-related sphingolipidosis relationship: excluded_subClassOf MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! variable age onset epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/735 {source="MONDO:mim2gene_medgen"} ! ASAH1 @@ -165522,9 +165816,9 @@ xref: OMIM:614408 {source="MONDO:equivalentObsolete"} xref: Orphanet:169189 {source="MONDO:equivalentTo", source="OMIM:160150"} xref: SCTID:716696006 {source="MONDO:equivalentTo"} xref: UMLS:C4551952 {source="MEDGEN:1645741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0111217", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002921 {source="NCIT:C126689", source="OMIM:160150"} ! congenital structural myopathy -is_a: MONDO:0018947 {source="DC-OMIM:160150", source="MONDO:Redundant", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! centronuclear myopathy +is_a: MONDO:0018947 {source="DC-OMIM:160150", source="DOID:0111217", source="MONDO:Redundant", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:160150", source="OMIM:614408", source="Orphanet:169189"} ! Autosomal dominant inheritance @@ -165543,7 +165837,7 @@ xref: DOID:0070196 {source="MONDO:equivalentTo"} xref: MEDGEN:860162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:160300 {source="MONDO:equivalentTo"} xref: UMLS:C4011725 {source="MEDGEN:860162", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018949 {source="DC-OMIM:160300"} ! distal myopathy +is_a: MONDO:0018949 {source="DC-OMIM:160300", source="DOID:0070196"} ! distal myopathy [Term] id: MONDO:0008050 @@ -165577,7 +165871,7 @@ xref: Orphanet:59135 {source="OMIM:160500", source="MONDO:equivalentTo"} xref: SCTID:764859001 {source="MONDO:equivalentTo"} xref: UMLS:C4552004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647391"} is_a: MONDO:0016195 {source="Orphanet:59135"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -is_a: MONDO:0018949 {source="DC-OMIM:160500", source="MONDO:Redundant", source="Orphanet:59135"} ! distal myopathy +is_a: MONDO:0018949 {source="DC-OMIM:160500", source="DOID:0070197", source="MONDO:Redundant", source="OMIM:160500", source="Orphanet:59135"} ! distal myopathy is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 @@ -165694,7 +165988,7 @@ xref: Orphanet:614 {source="OMIM:160800"} xref: SCTID:57938005 {source="MONDO:equivalentTo"} xref: SCTID:8960007 {source="MONDO:relatedTo"} xref: UMLS:C2936781 {source="MEDGEN:422446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009710 {source="DC-OMIM:160800", source="OMIM:160800"} ! Thomsen and Becker disease +is_a: MONDO:0009710 {source="DC-OMIM:160800", source="DOID:0081336", source="OMIM:160800"} ! Thomsen and Becker disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2019 {source="MONDO:mim2gene_medgen"} ! CLCN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -165833,7 +166127,7 @@ xref: Orphanet:69087 {source="MONDO:equivalentTo", source="OMIM:161000"} xref: SCTID:239084001 {source="MONDO:equivalentTo"} xref: UMLS:C0343111 {source="MEDGEN:91010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma -is_a: MONDO:0019287 {source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111528", source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome is_a: MONDO:0019289 {source="Orphanet:69087"} ! hyperpigmentation of the skin relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6416 {source="MONDO:mim2gene_medgen"} ! KRT14 @@ -165883,7 +166177,7 @@ xref: Orphanet:280654 {source="OMIM:614157"} xref: Orphanet:79153 {source="MONDO:equivalentTo", source="OMIM:161050"} xref: SCTID:238719003 {source="MONDO:equivalentTo"} xref: UMLS:C0406443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96056"} -is_a: MONDO:0019284 {source="DC-OMIM:161050", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:161050", source="DOID:0080079", source="MONDO:Redundant", source="OMIM:161050", source="Orphanet:79153"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4044 ! FZD6 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -165934,7 +166228,7 @@ xref: SCTID:22199006 {source="MONDO:equivalentTo", source="DOID:9467"} xref: UMLS:C0027341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10257"} is_a: MONDO:0000426 {source="DOID:9467", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75120"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:9467", source="MONDO:Redundant", source="NCIT:C75120"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0018234 {source="https://orcid.org/0000-0002-4142-7153"} ! dysostosis relationship: excluded_subClassOf MONDO:0015163 {source="Orphanet:2614", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary glomerular disease @@ -166144,6 +166438,7 @@ xref: OMIM:161950 {source="MONDO:equivalentTo"} xref: Orphanet:34145 {source="OMIM:161950"} xref: UMLS:C3160719 {source="MEDGEN:463619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:161950", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility +is_a: MONDO:0100555 {source="OMIM:161950"} ! IgA nephropathy, susceptibility to relationship: excluded_subClassOf MONDO:0005342 {source="OMIM:161950", source="https://orcid.org/0000-0001-5208-3432"} ! IgA glomerulonephritis relationship: predisposes_towards MONDO:0005342 {source="OMIM:161950"} ! IgA glomerulonephritis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -166322,7 +166617,7 @@ xref: MESH:C563523 {source="MONDO:equivalentTo"} xref: OMIM:162210 {source="MONDO:equivalentTo"} xref: Orphanet:636 {source="OMIM:162210"} xref: UMLS:C1834235 {source="MEDGEN:320296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018975 {source="DC-OMIM:162210"} ! neurofibromatosis type 1 +is_a: MONDO:0018975 {source="DC-OMIM:162210", source="DOID:0070482"} ! neurofibromatosis type 1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162210"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7765 {source="MONDO:mim2gene_medgen"} ! NF1 @@ -167031,7 +167326,7 @@ xref: MESH:C537854 {source="MONDO:equivalentTo"} xref: OMIM:164100 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:164100"} xref: UMLS:C1834079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331657"} -is_a: MONDO:0005712 {source="DC-OMIM:164100", source="MESH:C537854", source="OMIM:164100", source="https://orcid.org/0000-0002-6601-2165"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:164100", source="DOID:0111792", source="MESH:C537854", source="OMIM:164100", source="https://orcid.org/0000-0002-6601-2165"} ! congenital nystagmus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -167454,7 +167749,8 @@ xref: Orphanet:2733 {source="OMIM:164745"} xref: Orphanet:93328 {source="OMIM:164745", source="MONDO:equivalentTo"} xref: SCTID:725165009 {source="MONDO:equivalentTo"} xref: UMLS:C2750355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413823"} -is_a: MONDO:0017136 {source="DC-OMIM:164745", source="MONDO:Redundant", source="Orphanet:93328"} ! omodysplasia +is_a: MONDO:0000426 {source="DOID:0080845"} ! autosomal dominant disease +is_a: MONDO:0017136 {source="DC-OMIM:164745", source="DOID:0080845", source="MONDO:Redundant", source="OMIM:164745", source="Orphanet:93328"} ! omodysplasia intersection_of: MONDO:0017136 ! omodysplasia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -167496,7 +167792,7 @@ xref: MESH:C563503 {source="MONDO:equivalentTo"} xref: OMIM:164800 {source="MONDO:equivalentTo", source="DOID:0080083"} xref: UMLS:C1833909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318994"} is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease -is_a: MONDO:0019284 {source="DC-OMIM:164800", source="OMIM:164800"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:164800", source="DOID:0080083", source="OMIM:164800"} ! inherited isolated nail anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -167610,7 +167906,7 @@ xref: MESH:C563496 {source="MONDO:equivalentTo"} xref: OMIM:165200 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="OMIM:165200"} xref: UMLS:C1833830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322290"} -is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease +is_a: MONDO:0020478 {source="DOID:0111756", source="Orphanet:99718/btnt"} ! Leber plus disease [Term] id: MONDO:0008133 @@ -167762,7 +168058,7 @@ xref: OMIM:165590 {source="MONDO:equivalentTo", source="Orphanet:2756", source=" xref: Orphanet:2756 {source="OMIM:165590", source="MONDO:equivalentObsolete", source="DOID:0060380"} xref: SCTID:722075004 {source="MONDO:equivalentTo"} xref: UMLS:C1833796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322280"} -is_a: MONDO:0015375 {source="DC-OMIM:165590", source="DOID:0060380", source="MESH:C563491", source="Orphanet:2756"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:165590", source="DOID:0060380", source="MESH:C563491", source="OMIM:165590", source="Orphanet:2756"} ! orofaciodigital syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2756", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -167948,6 +168244,7 @@ xref: SCTID:46041001 {source="DOID:4624", source="MONDO:directSiblingOf"} xref: UMLS:C0014084 {source="MEDGEN:41775", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005070 {source="MONDO:Redundant", source="Orphanet:296"} ! neoplasm is_a: MONDO:0018230 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! skeletal dysplasia +is_a: MONDO:0019060 {source="Orphanet:296"} ! bone neoplasm relationship: disease_has_feature MONDO:0000631 {source="NCIT:C3008"} ! bone benign neoplasm relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: excluded_subClassOf MONDO:0019708 {source="Orphanet:296", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with disorganized development of skeletal components @@ -168296,6 +168593,7 @@ xref: Orphanet:53 {source="MONDO:equivalentTo", source="DOID:0110938", source="O xref: SCTID:725050005 {source="MONDO:equivalentTo"} xref: UMLS:C3179239 {source="MEDGEN:465707", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017198 {source="DC-OMIM:166600", source="DOID:0110938", source="OMIM:166600", source="Orphanet:53", source="PMID:31633310"} ! osteopetrosis +is_a: MONDO:0020645 {source="OMIM:166600"} ! autosomal dominant osteopetrosis relationship: excluded_subClassOf MONDO:0020244 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete unclassified primitive or secondary maculopathy relationship: excluded_subClassOf MONDO:0020249 {source="Orphanet:53", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary optic neuropathy relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -168334,7 +168632,7 @@ xref: OMIM:166700 {source="Orphanet:1306/e", source="MONDO:equivalentTo", source xref: Orphanet:1306 {source="MONDO:equivalentObsolete", source="OMIM:166700"} xref: Orphanet:166119 {source="OMIM:166700"} xref: UMLS:C0265514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120545"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111536", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: excluded_subClassOf MONDO:0017198 {source="Orphanet:1306", source="https://orcid.org/0000-0001-5208-3432"} ! osteopetrosis @@ -168486,7 +168784,7 @@ xref: OMIM:166800 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:166800"} xref: UMLS:C4551901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639517"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:166800", source="OMIM:166800"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:166800", source="DOID:0060920", source="OMIM:166800"} ! otosclerosis [Term] id: MONDO:0008165 @@ -168812,7 +169110,7 @@ xref: OMIM:167250 {source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="OMIM:167250"} xref: UMLS:C4085252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895927"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005382 {source="DC-OMIM:167250", source="OMIM:167250"} ! bone Paget disease +is_a: MONDO:0005382 {source="DC-OMIM:167250", source="DOID:0081366", source="OMIM:167250"} ! bone Paget disease is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -168875,7 +169173,7 @@ xref: NCIT:C122663 {source="MONDO:equivalentTo"} xref: OMIM:167320 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:167320"} xref: UMLS:C4551951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641069"} -is_a: MONDO:0000507 {source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia +is_a: MONDO:0000507 {source="DOID:0111385", source="OMIM:167320", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -168998,7 +169296,7 @@ xref: OMIM:167750 {source="Orphanet:675", source="DOID:0060850", source="MONDO:e xref: Orphanet:675 {source="DOID:0060850", source="MONDO:equivalentTo", source="OMIM:167750"} xref: SCTID:40315008 {source="MONDO:equivalentTo"} xref: UMLS:C0149955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56211"} -is_a: MONDO:0002356 {source="https://orcid.org/0000-0002-4142-7153"} ! pancreas disorder +is_a: MONDO:0002356 {source="DOID:0060850", source="https://orcid.org/0000-0002-4142-7153"} ! pancreas disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/705/annular-pancreas" xsd:anyURI {source="GARD:0000705"} @@ -169926,10 +170224,12 @@ xref: OMIM:170390 {source="Orphanet:37553/e", source="DOID:0050434", source="MON xref: Orphanet:37553 {source="DOID:0050434", source="MONDO:equivalentTo", source="OMIM:170390"} xref: SCTID:422348008 {source="DOID:0050434", source="MONDO:equivalentTo"} xref: UMLS:C1563715 {source="MEDGEN:327586", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000995 {source="Orphanet:37553"} ! familial periodic paralysis is_a: MONDO:0002254 {source="MONDO:0008222/inferred", source="MONDO:Redundant", source="NCIT:C84559"} ! syndromic disease is_a: MONDO:0002442 {source="DC-OMIM:170390", source="DOID:0050434", source="MESH:D050030", source="OMIM:170390"} ! long QT syndrome is_a: MONDO:0016122 {source="Orphanet:37553"} ! periodic paralysis is_a: MONDO:0019119 {source="Orphanet:37553"} ! muscular channelopathy +is_a: MONDO:0019171 {source="OMIM:170390"} ! familial long QT syndrome relationship: disease_has_feature HP:0000347 ! Micrognathia relationship: disease_has_feature HP:0004308 ! Ventricular arrhythmia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6263 {source="MONDO:mim2gene_medgen"} ! KCNJ2 @@ -170017,7 +170317,7 @@ xref: SCTID:15973007 {source="DOID:14451"} xref: SCTID:278513006 {source="DOID:14451"} xref: SCTID:304737009 {source="MONDO:equivalentTo", source="DOID:14451"} xref: UMLS:C0238357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68665"} -is_a: MONDO:0000995 ! familial periodic paralysis +is_a: MONDO:0000995 {source="DOID:14451", source="Orphanet:682"} ! familial periodic paralysis is_a: MONDO:0800468 {source="PMID:32849172", source="https://clinicalgenome.org/affiliation/40060/"} ! SCN4A-related channelopathy intersection_of: MONDO:0000995 ! familial periodic paralysis intersection_of: disease_has_feature HP:0002153 ! Hyperkalemia @@ -170423,7 +170723,7 @@ xref: SCTID:154998003 {source="DOID:11870"} xref: SCTID:267688001 {source="DOID:11870"} xref: UMLS:C0236642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:116020"} is_a: MONDO:0005559 {source="DOID:11870", source="EFO:0003096/inferred", source="MESH:D020774/inferred", source="MONDO:Redundant", source="NCIT:C85008"} ! neurodegenerative disease -is_a: MONDO:0017276 {source="MESH:D020774", source="Orphanet:282/btnt"} ! frontotemporal dementia +is_a: MONDO:0017276 {source="DOID:11870", source="MESH:D020774", source="Orphanet:282/btnt"} ! frontotemporal dementia is_a: MONDO:0024238 {source="MONDO:Redundant"} ! cerebral degeneration relationship: disease_has_location UBERON:0001870 {source="EFO:0000784"} ! frontal cortex relationship: disease_has_location UBERON:0001871 {source="EFO:0000784"} ! temporal lobe @@ -170607,7 +170907,7 @@ xref: Orphanet:231679 {source="DOID:0060872", source="MONDO:equivalentTo", sourc xref: Orphanet:631 {source="OMIM:173100"} xref: SCTID:237687003 {source="MONDO:equivalentTo"} xref: UMLS:C0271567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124405"} -is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="Orphanet:231679"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000050 {source="DC-OMIM:173100", source="DOID:0060872", source="OMIM:173100", source="Orphanet:231679"} ! isolated congenital growth hormone deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2" xsd:anyURI {source="GARD:0001696"} @@ -171004,7 +171304,7 @@ xref: OMIM:174300 {source="Orphanet:2919", source="DOID:0060375", source="MONDO: xref: Orphanet:2919 {source="DOID:0060375", source="MONDO:equivalentTo", source="OMIM:174300"} xref: SCTID:722105002 {source="MONDO:equivalentTo"} xref: UMLS:C1868118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:358131"} -is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="Orphanet:2919"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:174300", source="DOID:0060375", source="MESH:C557819", source="OMIM:174300", source="Orphanet:2919"} ! orofaciodigital syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2919", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25360 {source="MONDO:mim2gene_medgen"} ! DDX59 @@ -171070,7 +171370,7 @@ xref: OMIM:174400 {source="Orphanet:93339/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93339 {source="MONDO:equivalentTo", source="OMIM:174400"} xref: SCTID:445216006 {source="MONDO:equivalentTo"} xref: UMLS:C1395852 {source="MEDGEN:237235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017425 {source="DC-OMIM:174400", source="Orphanet:93339"} ! preaxial polydactyly of fingers +is_a: MONDO:0017425 {source="DC-OMIM:174400", source="OMIM:174400", source="Orphanet:93339"} ! preaxial polydactyly of fingers is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -171107,7 +171407,7 @@ xref: Orphanet:2950 {source="MONDO:relatedTo", source="OMIM:174500"} xref: Orphanet:93336 {source="MONDO:equivalentTo", source="OMIM:174500"} xref: SCTID:715710001 {source="MONDO:equivalentTo"} xref: UMLS:C1868114 {source="MEDGEN:357423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017425 {source="DC-OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers +is_a: MONDO:0017425 {source="DC-OMIM:174500", source="OMIM:174500", source="Orphanet:93336"} ! preaxial polydactyly of fingers relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13243 {source="MONDO:mim2gene_medgen"} ! LMBR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -171138,7 +171438,7 @@ xref: OMIM:174600 {source="MONDO:equivalentTo", source="Orphanet:93337", source= xref: Orphanet:93337 {source="MONDO:equivalentTo", source="OMIM:174600"} xref: SCTID:723446006 {source="MONDO:equivalentTo"} xref: UMLS:C1868113 {source="MEDGEN:357422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017425 {source="DC-OMIM:174600", source="Orphanet:93337"} ! preaxial polydactyly of fingers +is_a: MONDO:0017425 {source="DC-OMIM:174600", source="OMIM:174600", source="Orphanet:93337"} ! preaxial polydactyly of fingers is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -171177,7 +171477,7 @@ xref: Orphanet:93338 {source="OMIM:174700", source="MONDO:equivalentTo"} xref: SCTID:84598000 xref: UMLS:C1868111 {source="MEDGEN:357420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125597"} ! metabolic disease -is_a: MONDO:0017425 {source="DC-OMIM:174700", source="Orphanet:93338"} ! preaxial polydactyly of fingers +is_a: MONDO:0017425 {source="DC-OMIM:174700", source="OMIM:174700", source="Orphanet:93338"} ! preaxial polydactyly of fingers is_a: MONDO:0021651 {source="https://github.com/monarch-initiative/mondo/issues/3919", source="https://orcid.org/0000-0002-4142-7153"} ! synpolydactyly is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism relationship: excluded_subClassOf MONDO:0005066 {source="NCIT:C125597", source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease @@ -171235,7 +171535,7 @@ xref: OMIM:174800 {source="MONDO:includedEntryInOMIM"} xref: Orphanet:93276 {source="MONDO:equivalentTo"} xref: SCTID:36517007 {source="MONDO:equivalentTo"} xref: UMLS:C0016065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5180"} -is_a: MONDO:0000845 {source="MESH:D005359", source="Orphanet:93276"} ! fibrous dysplasia +is_a: MONDO:0000845 {source="MESH:D005359", source="NCIT:C34610", source="Orphanet:93276"} ! fibrous dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI [Term] @@ -171624,7 +171924,7 @@ xref: Orphanet:36383 {source="MONDO:equivalentTo", source="DOID:0090125", source xref: Orphanet:99810 {source="OMIM:175780"} xref: UMLS:C4551998 {source="MEDGEN:1647320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017410 {source="MONDO:Redundant", source="OMIM:175780"} ! porencephaly -is_a: MONDO:0020496 {source="Orphanet:99810/btnt"} ! familial porencephaly +is_a: MONDO:0020496 {source="DOID:0090125", source="OMIM:175780", source="Orphanet:99810/btnt"} ! familial porencephaly relationship: excluded_subClassOf MONDO:0018790 {source="Orphanet:36383", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2202 {source="MONDO:mim2gene_medgen"} ! COL4A1 @@ -171957,7 +172257,7 @@ xref: Orphanet:739 {source="OMIM:176270", source="MONDO:equivalentTo"} xref: SCTID:205794007 {source="DOID:11983"} xref: SCTID:89392001 {source="MONDO:equivalentTo", source="DOID:11983"} xref: UMLS:C0032897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:46057"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75463"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:11983", source="MONDO:Redundant", source="NCIT:C75463"} ! syndromic disease is_a: MONDO:0005071 {source="MONDO:0020016-obsoleted"} ! nervous system disorder is_a: MONDO:0015160 {source="Orphanet:739"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism @@ -171992,7 +172292,7 @@ xref: OMIM:176305 {source="Orphanet:2957/e", source="MONDO:equivalentTo", source xref: Orphanet:2957 {source="MONDO:equivalentTo", source="OMIM:176305"} xref: SCTID:722452004 {source="MONDO:equivalentTo"} xref: UMLS:C1867801 {source="MEDGEN:401304", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111544", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5102 {source="MONDO:mim2gene_medgen"} ! HOXA13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -172014,7 +172314,7 @@ xref: OMIM:176400 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="OMIM:176400"} xref: UMLS:C3805879 {source="MEDGEN:812209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000088 {source="MONDO:Redundant", source="OMIM:176400"} ! precocious puberty -is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty +is_a: MONDO:0019165 {source="DOID:0112310", source="MONDO:Redundant", source="OMIM:176400", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 ! KISS1R relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4510 {source="MONDO:mim2gene_medgen"} ! KISS1R @@ -172102,7 +172402,7 @@ xref: OMIM:176450 {source="Orphanet:1552", source="MONDO:equivalentTo", source=" xref: Orphanet:1552 {source="MONDO:equivalentTo", source="OMIM:176450"} xref: SCTID:413936007 {source="MONDO:equivalentTo"} xref: UMLS:C1531773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323460"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111546", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0018230 {source="PMID:33836786", source="https://orcid.org/0009-0001-6494-4831"} ! skeletal dysplasia @@ -172234,7 +172534,7 @@ is_a: MONDO:0006025 {source="DOID:3911", source="MONDO:Redundant"} ! autosomal r is_a: MONDO:0015333 {source="Orphanet:740"} ! progeroid syndrome is_a: MONDO:0019303 {source="Orphanet:740"} ! premature aging syndrome is_a: MONDO:0019707 {source="Orphanet:740", source="PMID:31633310"} ! primary osteolysis -is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria +is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:176670"} ! progeria is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:176670", source="Orphanet:740"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA @@ -172390,7 +172690,7 @@ xref: MEDGEN:436138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:176860 {source="MONDO:equivalentTo"} xref: Orphanet:745 {source="OMIM:176860"} xref: UMLS:C2674321 {source="MEDGEN:436138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019145 {source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency +is_a: MONDO:0019145 {source="DOID:0111909", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MONDO:Redundant", source="OMIM:176860"} ! inherited thrombophilia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -172438,7 +172738,7 @@ xref: SCTID:23150001 {source="DOID:13482", source="MONDO:equivalentTo"} xref: SCTID:394527003 {source="DOID:13482"} xref: UMLS:C0085261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39008"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease -is_a: MONDO:0017623 {source="Orphanet:744"} ! PTEN hamartoma tumor syndrome +is_a: MONDO:0017623 {source="DOID:13482", source="Orphanet:744"} ! PTEN hamartoma tumor syndrome is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0019716 {source="Orphanet:744"} ! overgrowth syndrome relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:744", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -172760,7 +173060,7 @@ xref: NCIT:C131681 {source="MONDO:equivalentTo"} xref: OMIM:177820 {source="Orphanet:52530", source="MONDO:equivalentTo", source="Orphanet:52530/e", source="DOID:0111056"} xref: Orphanet:52530 {source="MONDO:equivalentTo", source="DOID:0111056", source="OMIM:177820"} xref: UMLS:C1280798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:226914"} -is_a: MONDO:0000009 {source="DC-OMIM:177820", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:177820"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:177820", source="DOID:0111056", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:177820"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0019565 {source="MONDO:Redundant", source="NCIT:C131681"} ! hereditary von Willebrand disease is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder is_a: MONDO:0024574 {source="MESH:C536458", source="NCIT:C131681"} ! von Willebrand disease (hereditary or acquired) @@ -172896,9 +173196,10 @@ xref: MESH:C566739 {source="MONDO:equivalentTo"} xref: OMIM:178110 {source="Orphanet:65743", source="MONDO:equivalentTo", source="Orphanet:65743/e"} xref: Orphanet:65743 {source="OMIM:178110", source="MONDO:equivalentTo"} xref: UMLS:C1867440 {source="MEDGEN:401232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0081321"} ! autosomal dominant disease is_a: MONDO:0017415 {source="MONDO:Redundant", source="Orphanet:65743"} ! multiple pterygium syndrome is_a: MONDO:0019942 {source="DC-OMIM:178110", source="Orphanet:65743"} ! distal arthrogryposis -is_a: MONDO:0020937 {source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome +is_a: MONDO:0020937 {source="OMIM:178110", source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome intersection_of: MONDO:0017415 ! multiple pterygium syndrome intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 ! MYH3 @@ -173485,7 +173786,7 @@ xref: MESH:C538565 {source="Orphanet:93608", source="Orphanet:93608/e"} xref: OMIM:179800 {source="Orphanet:93608", source="MONDO:equivalentTo", source="Orphanet:93608/e"} xref: Orphanet:18 {source="OMIM:179800"} xref: Orphanet:93608 {source="MONDO:equivalentTo", source="OMIM:179800"} -is_a: MONDO:0015827 {source="MONDO:Redundant", source="Orphanet:93608"} ! distal renal tubular acidosis +is_a: MONDO:0015827 {source="MONDO:Redundant", source="OMIM:179800", source="Orphanet:93608"} ! distal renal tubular acidosis intersection_of: MONDO:0015827 ! distal renal tubular acidosis intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 @@ -173625,7 +173926,7 @@ xref: MESH:C566719 {source="MONDO:equivalentTo"} xref: OMIM:180020 {source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="OMIM:180020"} xref: UMLS:C1867326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356747"} -is_a: MONDO:0000455 {source="DC-OMIM:180020"} ! cone dystrophy +is_a: MONDO:0000455 {source="DC-OMIM:180020", source="DOID:0081024"} ! cone dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -173859,6 +174160,7 @@ xref: SCTID:156481008 {source="DOID:7148"} xref: SCTID:287010008 {source="DOID:7148"} xref: SCTID:69896004 {source="DOID:7148", source="MONDO:equivalentTo", source="EFO:0000685"} xref: UMLS:C0003873 {source="MEDGEN:2078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000589 {source="DOID:7148"} ! autoimmune disorder of musculoskeletal system is_a: MONDO:0005554 {source="EFO:0000685/inferred", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! rheumatic disorder is_a: MONDO:0005578 {source="DOID:7148", source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! arthritic joint disease is_a: MONDO:0007179 {source="EFO:0000685", source="MESH:D001172", source="MONDO:Redundant", source="NCIT:C2884"} ! autoimmune disease @@ -174247,7 +174549,7 @@ xref: OMIM:180920 {source="Orphanet:86815/e", source="MONDO:equivalentTo", sourc xref: Orphanet:86815 {source="OMIM:180920", source="MONDO:equivalentTo"} xref: SCTID:715656004 {source="MONDO:equivalentTo"} xref: UMLS:C0158667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57641"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111549", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3666 {source="MONDO:mim2gene_medgen"} ! FGF10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -174418,7 +174720,7 @@ xref: Orphanet:2036 {source="MONDO:equivalentTo", source="GARD:0000159", source= xref: SCTID:721888002 {source="MONDO:equivalentTo"} xref: UMLS:C1867020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357183"} is_a: MONDO:0015161 {source="Orphanet:2036"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019287 {source="Orphanet:2036"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111550", source="Orphanet:2036"} ! ectodermal dysplasia syndrome is_a: MONDO:0019294 {source="Orphanet:2036"} ! mixed dermis disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18249 {source="MONDO:mim2gene_medgen"} ! KCTD1 @@ -174476,6 +174778,7 @@ xref: Orphanet:85146 {source="OMIM:181400", source="MONDO:equivalentTo"} xref: UMLS:C1867005 {source="MEDGEN:356670", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016187 {source="Orphanet:85146"} ! qualitative or quantitative defects of desmin is_a: MONDO:0020128 {source="MESH:C566695/inferred", source="Orphanet:85146", source="Orphanet:85146/inferred"} ! motor neuron disorder +is_a: MONDO:0024257 {source="Orphanet:85146"} ! hereditary motor neuron disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 {source="MONDO:mim2gene_medgen"} ! DES property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type" xsd:anyURI {source="GARD:0010312"} @@ -174503,7 +174806,9 @@ xref: OMIM:181405 {source="Orphanet:431255", source="MONDO:equivalentTo", source xref: Orphanet:431255 {source="MONDO:equivalentTo", source="OMIM:181405"} xref: SCTID:230248006 {source="MONDO:equivalentTo"} xref: UMLS:C0751335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:148283"} +is_a: MONDO:0000426 {source="DOID:0111552"} ! autosomal dominant disease is_a: MONDO:0001516 {source="OMIM:181405/inferred", source="Orphanet:431255", source="Orphanet:431255/inferred"} ! spinal muscular atrophy +is_a: MONDO:0024257 {source="Orphanet:431255"} ! hereditary motor neuron disease relationship: has_characteristic HP:0000006 {source="OMIM:181405"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 @@ -174624,7 +174929,7 @@ xref: OMIM:181450 {source="Orphanet:3138", source="MONDO:equivalentTo", source=" xref: Orphanet:3138 {source="MONDO:equivalentTo", source="DOID:0060614", source="OMIM:181450"} xref: SCTID:700211007 {source="MONDO:equivalentTo"} xref: UMLS:C1866994 {source="MONDO:equivalentTo", source="MEDGEN:357886", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060614", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:3138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0019713 {source="PMID:31633310", source="https://orcid.org/0000-0002-5002-8648"} ! non-syndromic limb reduction defect relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11602 {source="MONDO:mim2gene_medgen"} ! TBX3 @@ -174849,7 +175154,9 @@ xref: MEDGEN:902781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567160 {source="MONDO:equivalentTo"} xref: OMIM:182170 {source="MONDO:equivalentTo", source="DOID:0060335"} xref: UMLS:C4225428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902781"} +is_a: MONDO:0000426 {source="DOID:0060335"} ! autosomal dominant disease is_a: MONDO:0015194 {source="DC-OMIM:182170", source="DOID:0060335", source="MESH:C567160", source="MONDO:Redundant", source="OMIM:182170"} ! sideroblastic anemia +is_a: MONDO:0020099 {source="OMIM:182170"} ! inherited sideroblastic anemia intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5244 {source="MONDO:mim2gene_medgen"} ! HSPA9 @@ -175003,7 +175310,7 @@ xref: Orphanet:95494 {source="OMIM:182230"} xref: SCTID:7611002 {source="MONDO:equivalentTo"} xref: UMLS:C0338503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90926"} is_a: MONDO:0000429 {source="DOID:0060857"} ! autosomal genetic disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85063"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060857", source="MONDO:Redundant", source="NCIT:C85063"} ! syndromic disease is_a: MONDO:0013099 {source="OMIM:182230", source="Orphanet:95494/btnt"} ! combined pituitary hormone deficiencies, genetic form relationship: excluded_subClassOf MONDO:0015218 {source="MONDO:Redundant", source="Orphanet:3157", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic developmental defect of the eye relationship: excluded_subClassOf MONDO:0015220 {source="MONDO:0017120-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with a central nervous system malformation as major feature @@ -175586,7 +175893,7 @@ xref: NCIT:C132826 {source="MONDO:equivalentTo"} xref: OMIM:182960 {source="MONDO:equivalentTo", source="Orphanet:139518", source="Orphanet:139518/e"} xref: Orphanet:139518 {source="MONDO:equivalentTo", source="OMIM:182960"} xref: UMLS:C1866784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356618"} -is_a: MONDO:0015362 {source="Orphanet:139518"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111200", source="OMIM:182960", source="Orphanet:139518"} ! neuronopathy, distal hereditary motor, autosomal dominant is_a: MONDO:0015626 {source="NCIT:C132826"} ! Charcot-Marie-Tooth disease relationship: excluded_subClassOf MONDO:0000075 {source="DC-OMIM:182960", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuronopathy, distal hereditary motor @@ -175628,7 +175935,7 @@ xref: MEDGEN:340120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182980 {source="Orphanet:209335/e", source="MONDO:equivalentTo", source="Orphanet:209335"} xref: Orphanet:209335 {source="MONDO:equivalentTo", source="OMIM:182980"} xref: UMLS:C1854058 {source="MEDGEN:340120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001516 {source="DC-OMIM:182980"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DC-OMIM:182980", source="DOID:0111194"} ! spinal muscular atrophy is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12649 {source="MONDO:mim2gene_medgen"} ! VAPB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -175995,7 +176302,7 @@ xref: OMIM:183850 {source="MONDO:equivalentTo"} xref: Orphanet:163673 {source="MONDO:equivalentObsolete", source="OMIM:183850"} xref: UMLS:C1866727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357119"} is_a: MONDO:0003847 {source="MESH:C566660/inferred"} ! hereditary disease -is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112286", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0008471 @@ -176030,7 +176337,7 @@ xref: OMIM:183900 {source="DOID:14789", source="Orphanet:94068", source="MONDO:e xref: Orphanet:94068 {source="OMIM:183900", source="MONDO:equivalentTo"} xref: SCTID:278713008 {source="MONDO:equivalentTo"} xref: UMLS:C2745959 {source="MEDGEN:412530", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016761 {source="Orphanet:94068"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:14789", source="Orphanet:94068"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:94068", source="PMID:31633310"} ! type 2 collagenopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -176107,7 +176414,8 @@ xref: MESH:C566658 {source="MONDO:equivalentTo"} xref: OMIM:184100 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:184100"} xref: UMLS:C1866717 {source="MONDO:equivalentTo", source="MEDGEN:355785", source="MONDO:MEDGEN"} -is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0000426 {source="DOID:0112285"} ! autosomal dominant disease +is_a: MONDO:0019667 {source="DOID:0112285", source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:184100", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations @@ -176175,7 +176483,7 @@ xref: SCTID:702350003 {source="MONDO:equivalentTo"} xref: UMLS:C0700635 {source="MEDGEN:147134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016763 {source="OMIM:184250"} ! spondylometaphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93346", source="PMID:31633310"} ! type 2 collagenopathy -is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0080028", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: disease_has_feature HP:0000768 ! Pectus carinatum relationship: disease_has_feature HP:0000924 ! Abnormality of the skeletal system relationship: disease_has_feature HP:0000926 ! Platyspondyly @@ -176218,7 +176526,7 @@ xref: MESH:C535797 {source="MONDO:equivalentTo", source="Orphanet:93314", source xref: OMIM:184252 {source="MONDO:equivalentTo", source="Orphanet:93314", source="Orphanet:93314/e"} xref: Orphanet:93314 {source="MONDO:equivalentTo", source="OMIM:184252"} xref: UMLS:C0265280 {source="MEDGEN:82698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="DC-OMIM:184252", source="Orphanet:93314"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:184252", source="DOID:0111554", source="OMIM:184252", source="Orphanet:93314"} ! spondylometaphyseal dysplasia is_a: MONDO:0018240 {source="Orphanet:93314", source="PMID:31633310"} ! TRPV4-related bone disorder intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 ! TRPV4 @@ -176252,7 +176560,7 @@ xref: OMIM:184253 {source="Orphanet:93316/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93316 {source="MONDO:equivalentTo", source="OMIM:184253"} xref: SCTID:719304005 {source="MONDO:equivalentTo"} xref: UMLS:C1866688 {source="MEDGEN:356595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="DC-OMIM:184253", source="Orphanet:93316"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:184253", source="DOID:0112296", source="Orphanet:93316"} ! spondylometaphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:93316", source="PMID:31633310"} ! type 2 collagenopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -176283,8 +176591,8 @@ xref: OMIM:184255 {source="MONDO:equivalentTo", source="Orphanet:93315", source= xref: Orphanet:93315 {source="MONDO:equivalentTo", source="OMIM:184255"} xref: SCTID:254078005 {source="MONDO:equivalentTo"} xref: UMLS:C0432221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98146"} -is_a: MONDO:0016763 {source="DC-OMIM:184255", source="Orphanet:93315", source="PMID:31633310"} ! spondylometaphyseal dysplasia -is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy +is_a: MONDO:0016763 {source="DC-OMIM:184255", source="DOID:0112297", source="OMIM:184255", source="Orphanet:93315", source="PMID:31633310"} ! spondylometaphyseal dysplasia +is_a: MONDO:0022800 {source="Orphanet:93315", source="PMID:31633310"} ! type 2 collagenopathy intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3778 ! FN1 relationship: excluded_subClassOf MONDO:0019686 {source="Orphanet:93315", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete type 2 collagen-related bone disorder @@ -176407,7 +176715,7 @@ xref: Orphanet:841 {source="MONDO:equivalentTo", source="OMIM:184500"} xref: SCTID:109433009 {source="MONDO:equivalentTo"} xref: UMLS:C0259771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75476"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder -is_a: MONDO:0006607 {source="DOID:9098", source="https://orcid.org/0000-0001-5208-3432"} ! sebaceous gland disorder +is_a: MONDO:0006607 {source="DOID:0111556", source="DOID:9098", source="https://orcid.org/0000-0001-5208-3432"} ! sebaceous gland disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6427 {source="MONDO:mim2gene_medgen"} ! KRT17 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -176706,7 +177014,7 @@ xref: OMIM:185020 {source="Orphanet:398088", source="MONDO:equivalentTo", source xref: Orphanet:398088 {source="MONDO:equivalentTo"} xref: Orphanet:90044 {source="OMIM:185020"} xref: UMLS:C1861453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396137"} -is_a: MONDO:0020102 ! hereditary stomatocytosis +is_a: MONDO:0020102 {source="Orphanet:398088"} ! hereditary stomatocytosis [Term] id: MONDO:0008495 @@ -177386,7 +177694,7 @@ xref: MEDGEN:90977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:186500 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:186500"} xref: UMLS:C0342282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90977"} -is_a: MONDO:0017923 {source="DC-OMIM:186500", source="MONDO:Redundant", source="OMIM:186500"} ! multiple synostoses syndrome +is_a: MONDO:0017923 {source="DC-OMIM:186500", source="DOID:0081317", source="MONDO:Redundant", source="OMIM:186500"} ! multiple synostoses syndrome is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder intersection_of: MONDO:0017923 ! multiple synostoses syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG @@ -178095,7 +178403,7 @@ xref: MESH:C566061 {source="MONDO:equivalentTo"} xref: OMIM:187800 {source="MONDO:equivalentTo", source="DOID:0060691"} xref: Orphanet:140957 {source="MONDO:relatedTo", source="DOID:0060691", source="OMIM:187800"} xref: UMLS:C5442010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781222"} -is_a: MONDO:0000009 {source="DC-OMIM:187800", source="OMIM:187800"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:187800", source="DOID:0060691", source="OMIM:187800"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0001531 {source="DOID:0060691", source="MONDO:Redundant", source="MONDO:indirect"} ! blood coagulation disease is_a: MONDO:0003847 {source="MESH:C566061/inferred", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0021181 {source="DOID:0060691", source="MESH:C566061/inferred", source="MONDO:Redundant"} ! inherited blood coagulation disorder @@ -178129,7 +178437,7 @@ xref: NCIT:C142084 {source="MONDO:equivalentTo"} xref: OMIM:187900 {source="MONDO:equivalentTo", source="DOID:0111049"} xref: Orphanet:721 {source="OMIM:187900"} xref: UMLS:C1861194 {source="MONDO:equivalentTo", source="MEDGEN:396078", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:187900"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DOID:0111049", source="MONDO:Redundant", source="OMIM:187900"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 ! GFI1B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4238 {source="MONDO:mim2gene_medgen"} ! GFI1B @@ -178152,7 +178460,7 @@ xref: Orphanet:3318 {source="OMIM:187950"} xref: Orphanet:71493 {source="OMIM:187950", source="MONDO:directSiblingOf"} xref: UMLS:C3277671 {source="MEDGEN:479301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002249 {source="DC-OMIM:187950"} ! thrombocytosis disease -is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis +is_a: MONDO:0019111 {source="OMIM:187950", source="OMIMPS:187950"} ! familial thrombocytosis is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: excluded_subClassOf MONDO:0005029 {source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI @@ -179029,7 +179337,7 @@ xref: MESH:C536545 {source="MONDO:equivalentTo"} xref: OMIM:190300 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:190300"} xref: UMLS:C1860861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349909"} -is_a: MONDO:0003233 {source="DC-OMIM:190300", source="MESH:C536545", source="MONDO:Redundant", source="OMIM:190300"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:190300", source="DOID:0111428", source="MESH:C536545", source="MONDO:Redundant", source="OMIM:190300"} ! essential tremor is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3024 ! DRD3 @@ -179187,7 +179495,7 @@ xref: UMLS:C0432233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000426 {source="DOID:14743", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0002254 {source="NCIT:C75109", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0017951 {source="https://orcid.org/0000-0002-4142-7153"} ! trichorhinophalangeal syndrome +is_a: MONDO:0017951 {source="OMIM:190350", source="https://orcid.org/0000-0002-4142-7153"} ! trichorhinophalangeal syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190350"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1 @@ -179217,8 +179525,9 @@ xref: NORD:1789 {source="MONDO:NORD"} xref: OMIM:190351 {source="MONDO:equivalentTo"} xref: Orphanet:77258 {source="OMIM:190351"} xref: UMLS:C1860823 {source="MEDGEN:349899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0080376"} ! autosomal dominant disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0017951 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! trichorhinophalangeal syndrome +is_a: MONDO:0017951 {source="OMIM:190351", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! trichorhinophalangeal syndrome is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190351"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1 @@ -179345,7 +179654,7 @@ xref: OMIM:190440 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="OMIM:190440"} xref: UMLS:C0432122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98473"} is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:190440"} ! trigonocephaly -is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly +is_a: MONDO:0018065 {source="MONDO:Redundant", source="OMIM:190440", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 ! FGFR1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3688 {source="MONDO:mim2gene_medgen"} ! FGFR1 @@ -179580,7 +179889,7 @@ xref: NCIT:C75122 {source="MONDO:equivalentTo"} xref: OMIM:191100 {source="GARD:0005380", source="MONDO:equivalentTo"} xref: Orphanet:805 {source="OMIM:191100"} xref: UMLS:C1854465 {source="MEDGEN:344288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001734 {source="DC-OMIM:191100", source="MONDO:Redundant", source="NCIT:C75122", source="OMIM:191100"} ! tuberous sclerosis +is_a: MONDO:0001734 {source="DC-OMIM:191100", source="DOID:0080324", source="MONDO:Redundant", source="NCIT:C75122", source="OMIM:191100"} ! tuberous sclerosis intersection_of: MONDO:0001734 ! tuberous sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12362 ! TSC1 relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tuberous sclerosis complex @@ -180344,7 +180653,7 @@ xref: Orphanet:155 {source="OMIM:192600"} xref: UMLS:C3495498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:501195"} is_a: MONDO:0005045 {source="DOID:0110307", source="MONDO:0020484-obsoleted", source="MONDO:Redundant", source="OMIM:192600"} ! hypertrophic cardiomyopathy is_a: MONDO:0005267 {source="MONDO:0020484-obsoleted"} ! heart disorder -is_a: MONDO:0024573 {source="MONDO:OMIM", source="MONDO:Redundant", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110307", source="MONDO:OMIM", source="MONDO:Redundant", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 ! MYH7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="MONDO:mim2gene_medgen"} ! MYH7 @@ -180594,7 +180903,7 @@ xref: Orphanet:89937 {source="MONDO:equivalentTo", source="OMIM:193100"} xref: SCTID:237889002 {source="MONDO:equivalentTo"} xref: UMLS:C0342642 {source="MEDGEN:83346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Redundant", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets -is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0050948", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0005520 {source="DOID:0050948", source="MESH:C562791", source="MESH:C562791/inferred", source="MONDO:Redundant"} ! rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets @@ -180952,7 +181261,7 @@ xref: Orphanet:952 {source="MONDO:equivalentTo", source="OMIM:193530"} xref: SCTID:277807007 {source="MONDO:equivalentTo"} xref: UMLS:C0457013 {source="MEDGEN:141594", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015161 {source="Orphanet:952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis +is_a: MONDO:0018237 {source="DOID:0111571", source="Orphanet:952"} ! acrofacial dysostosis is_a: MONDO:0019287 {source="Orphanet:952"} ! ectodermal dysplasia syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -181009,7 +181318,7 @@ xref: UMLS:C0265224 {source="MEDGEN:120516", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98931"} ! syndromic disease is_a: MONDO:0008779 {source="NCIT:C98931"} ! arthrogryposis is_a: MONDO:0015161 {source="Orphanet:2053"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019942 {source="DC-OMIM:193700", source="DOID:0111604", source="Orphanet:2053"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:193700", source="DOID:0111604", source="OMIM:193700", source="Orphanet:2053"} ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 {source="MONDO:mim2gene_medgen"} ! MYH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -181034,7 +181343,7 @@ xref: MEDGEN:860363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:193900 {source="MONDO:equivalentTo"} xref: Orphanet:171723 {source="OMIM:193900"} xref: UMLS:C4011926 {source="MEDGEN:860363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015748 {source="DC-OMIM:193900", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis +is_a: MONDO:0015748 {source="DC-OMIM:193900", source="DOID:0081287", source="MONDO:Redundant", source="OMIM:193900"} ! hereditary mucosal leukokeratosis intersection_of: MONDO:0015748 ! hereditary mucosal leukokeratosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 ! KRT4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6441 {source="MONDO:mim2gene_medgen"} ! KRT4 @@ -181091,7 +181400,7 @@ xref: Orphanet:904 {source="MONDO:equivalentTo", source="OMIM:194050"} xref: SCTID:63247009 {source="DOID:1928", source="MONDO:equivalentTo"} xref: UMLS:C0175702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:59799"} is_a: MONDO:0000761 {source="DOID:1928"} ! syndrome caused by partial chromosomal deletion -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85232"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1928", source="MONDO:Redundant", source="NCIT:C85232"} ! syndromic disease is_a: MONDO:0016906 {source="Orphanet:904", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome 7 is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: disease_has_feature HP:0004381 {source="MONDO:Wikidata"} ! Supravalvular aortic stenosis @@ -181282,7 +181591,7 @@ xref: Orphanet:220 {source="OMIM:194080", source="MONDO:equivalentTo"} xref: SCTID:236385009 {source="DOID:3764", source="MONDO:equivalentTo"} xref: UMLS:C0950121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:181980"} is_a: MONDO:0000426 {source="DOID:3764", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:3764", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 ! endocrine system disorder is_a: MONDO:0020040 ! 46,XY disorder of sex development @@ -181524,7 +181833,7 @@ xref: OMIM:194380 {source="MONDO:equivalentTo"} xref: OMIM:603528 {source="GARD:0010676", source="MONDO:obsolete"} xref: Orphanet:3202 {source="OMIM:194380"} xref: UMLS:C4551512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638271"} -is_a: MONDO:0017910 {source="DC-OMIM:194380"} ! dehydrated hereditary stomatocytosis +is_a: MONDO:0017910 {source="DC-OMIM:194380", source="DOID:0111576"} ! dehydrated hereditary stomatocytosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28993 {source="MONDO:mim2gene_medgen"} ! PIEZO1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema" xsd:anyURI {source="GARD:0010676"} @@ -181630,7 +181939,7 @@ xref: OMIM:200110 {source="DOID:0060550", source="Orphanet:920", source="GARD:00 xref: Orphanet:920 {source="DOID:0060550", source="OMIM:200110", source="GARD:0000003", source="MONDO:equivalentTo"} xref: SCTID:718575002 {source="MONDO:equivalentTo"} xref: UMLS:C1860224 {source="MEDGEN:395439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060550", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:920"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20670 {source="MONDO:mim2gene_medgen"} ! TWIST2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -181940,7 +182249,7 @@ xref: OMIM:200700 {source="DOID:0080052", source="Orphanet:2098/e", source="MOND xref: Orphanet:2098 {source="MONDO:equivalentTo", source="OMIM:200700"} xref: UMLS:C0265260 {source="MEDGEN:75557", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019648 {source="NCIT:C3816"} ! achondrogenesis -is_a: MONDO:0019696 {source="DOID:0080052", source="Orphanet:2098", source="PMID:31633310"} ! acromesomelic dysplasia +is_a: MONDO:0019696 {source="DOID:0080052", source="OMIM:200700", source="Orphanet:2098", source="PMID:31633310"} ! acromesomelic dysplasia relationship: disease_has_feature HP:0002983 ! Micromelia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -182679,6 +182988,7 @@ xref: NCIT:C178415 {source="MONDO:equivalentTo"} xref: OMIM:201750 {source="MONDO:equivalentTo"} xref: Orphanet:63269 {source="MONDO:equivalentTo", source="OMIM:201750"} xref: UMLS:C3150099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461449"} +is_a: MONDO:0008803 {source="Orphanet:63269"} ! Antley-Bixler syndrome is_a: MONDO:0015338 {source="PMID:31633310"} ! syndromic craniosynostosis intersection_of: MONDO:0008803 ! Antley-Bixler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9208 ! POR @@ -183147,7 +183457,8 @@ xref: MEDGEN:1665322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C166155 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="MONDO:equivalentTo", source="OMIM:202700"} xref: UMLS:C4749612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1665322"} -is_a: MONDO:0018542 {source="DC-OMIM:202700", source="MONDO:Redundant", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia +is_a: MONDO:0000426 {source="DOID:0112130"} ! autosomal dominant disease +is_a: MONDO:0018542 {source="DC-OMIM:202700", source="DOID:0112130", source="MONDO:Redundant", source="OMIM:202700", source="Orphanet:486"} ! severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant" xsd:anyURI {source="GARD:0009558"} @@ -183625,7 +183936,7 @@ xref: OMIMPS:203650 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:203650", source="MONDO:equivalentTo"} xref: SCTID:716191002 {source="MONDO:equivalentTo"} xref: UMLS:C2931280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444019"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080627", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:2850", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -183850,8 +184161,8 @@ xref: Orphanet:63 {source="OMIM:203780"} xref: Orphanet:88919 {source="OMIM:203780", source="MONDO:equivalentTo", source="DOID:0110033"} xref: SCTID:717767009 {source="MONDO:equivalentTo"} xref: UMLS:C4746745 {source="MEDGEN:1648334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease -is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="Orphanet:88919"} ! Alport syndrome +is_a: MONDO:0006025 {source="DOID:0110033", source="MONDO:Redundant"} ! autosomal recessive disease +is_a: MONDO:0018965 {source="DC-OMIM:203780", source="DOID:0110033", source="MONDO:Redundant", source="OMIM:203780", source="Orphanet:88919"} ! Alport syndrome intersection_of: MONDO:0018965 ! Alport syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:203780", source="Orphanet:88919"} ! Autosomal recessive inheritance @@ -183888,7 +184199,7 @@ xref: OMIM:203800 {source="DOID:0050473", source="Orphanet:64", source="MONDO:eq xref: Orphanet:64 {source="MONDO:equivalentTo", source="OMIM:203800"} xref: SCTID:63702009 {source="DOID:0050473", source="MONDO:equivalentTo"} xref: UMLS:C0268425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78675"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84549"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050473", source="MONDO:Redundant", source="NCIT:C84549"} ! syndromic disease is_a: MONDO:0005308 {source="PMID:16722803", source="PMID:18178628", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0006025 {source="DOID:0050473", source="MONDO:Redundant"} ! autosomal recessive disease relationship: disease_has_feature HP:0000556 ! Retinal dystrophy @@ -184726,7 +185037,7 @@ xref: OMIM:206700 {source="Orphanet:1065", source="GARD:0000013", source="MONDO: xref: Orphanet:1065 {source="GARD:0000013", source="MONDO:equivalentTo", source="OMIM:206700"} xref: SCTID:253176002 {source="MONDO:equivalentTo"} xref: UMLS:C0431401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96563"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111578", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0011119 {source="https://orcid.org/0000-0002-5002-8648"} ! iridogoniodysgenesis relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:1065", source="https://clinicalgenome.org/affiliation/40060/", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -184883,7 +185194,7 @@ xref: Orphanet:77298 {source="MONDO:equivalentTo", source="OMIM:206900"} xref: SCTID:698851003 {source="MONDO:equivalentTo"} xref: UMLS:C1859773 {source="MEDGEN:347232", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015160 {source="Orphanet:77298"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0016073 {source="DC-OMIM:206900", source="OMIM:206900", source="Orphanet:77298"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:206900", source="DOID:0111801", source="OMIM:206900", source="Orphanet:77298"} ! syndromic microphthalmia [Term] id: MONDO:0008800 @@ -185113,7 +185424,7 @@ xref: Orphanet:411 {source="OMIM:207750"} xref: SCTID:33513003 {source="MONDO:equivalentTo"} xref: UMLS:C1720779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328375"} is_a: MONDO:0001336 {source="DC-OMIM:207750", source="MONDO:indirect"} ! familial hyperlipidemia -is_a: MONDO:0018637 {source="Orphanet:309020"} ! familial chylomicronemia syndrome +is_a: MONDO:0018637 {source="DOID:0111418", source="Orphanet:309020"} ! familial chylomicronemia syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/609 {source="MONDO:mim2gene_medgen"} ! APOC2 [Term] @@ -185427,7 +185738,7 @@ xref: MEDGEN:347219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:208085 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:208085"} xref: UMLS:C1859722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347219"} -is_a: MONDO:0017123 {source="DC-OMIM:208085", source="MONDO:Redundant", source="OMIM:208085", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome +is_a: MONDO:0017123 {source="DC-OMIM:208085", source="DOID:0111353", source="MONDO:Redundant", source="OMIM:208085", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 ! VPS33B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12712 {source="MONDO:mim2gene_medgen"} ! VPS33B @@ -185458,7 +185769,7 @@ xref: OMIM:208100 {source="Orphanet:1143", source="DOID:0090124", source="MONDO: xref: Orphanet:1143 {source="DOID:0090124", source="MONDO:equivalentTo", source="OMIM:208100"} xref: SCTID:715316005 {source="MONDO:equivalentTo"} xref: UMLS:C5435650 {source="MEDGEN:1725686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015168 {source="Orphanet:1143"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0090124", source="OMIM:208100", source="Orphanet:1143"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29205 ! ERGIC1 @@ -185485,7 +185796,7 @@ xref: MESH:C536647 {source="MONDO:equivalentTo"} xref: NCIT:C129071 {source="MONDO:equivalentTo"} xref: OMIMPS:208150 {source="MONDO:equivalentTo"} xref: SCTID:401138005 {source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111375", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:994"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015168 {source="Orphanet:994"} ! arthrogryposis multiplex congenita is_a: MONDO:0015929 {source="Orphanet:994"} ! thoracic malformation @@ -185692,7 +186003,7 @@ xref: UMLS:C0268225 {source="MEDGEN:78649", source="MONDO:equivalentTo", source= is_a: MONDO:0002561 {source="DOID:0050461", source="MESH:D054880", source="MONDO:Redundant", source="NCIT:C61273", source="Orphanet:93/inferred"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:93"} ! oligosaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:93", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/318 {source="MONDO:mim2gene_medgen"} ! AGA @@ -186130,7 +186441,7 @@ xref: OMIM:209700 {source="Orphanet:79100/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79100 {source="OMIM:209700", source="MONDO:equivalentTo"} xref: SCTID:2736005 {source="MONDO:equivalentTo"} xref: UMLS:C0263429 {source="MEDGEN:82666", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018855 {source="Orphanet:79100"} ! keratosis pilaris atrophicans +is_a: MONDO:0018855 {source="DOID:0080756", source="Orphanet:79100"} ! keratosis pilaris atrophicans property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata" xsd:anyURI {source="GARD:0009744"} [Term] @@ -186395,6 +186706,7 @@ xref: SCTID:718221007 {source="MONDO:equivalentTo"} xref: UMLS:C0221061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66358"} is_a: MONDO:0003847 {source="OMIM:210000"} ! hereditary disease is_a: MONDO:0005071 {source="DOID:0111580"} ! nervous system disorder +is_a: MONDO:0006025 {source="DOID:0111580"} ! autosomal recessive disease is_a: MONDO:0800181 {source="https://clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism/", source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! OPA1-related optic atrophy with or without extraocular features relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic HP:0000007 {source="DOID:0111580"} ! Autosomal recessive inheritance @@ -186475,7 +186787,7 @@ xref: OMIM:210200 {source="GARD:0005665", source="MEDIC:C535308", source="MONDO: xref: Orphanet:6 {source="GARD:0005665", source="OMIM:210200"} xref: UMLS:C0268600 {source="MONDO:equivalentTo", source="MEDGEN:78691", source="MONDO:MEDGEN"} is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder -is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210200", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency +is_a: MONDO:0018950 {source="DOID:0080579", source="MONDO:Redundant", source="OMIM:210200", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency is_a: MONDO:0019052 {source="MESH:C535308/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6936 ! MCCC1 @@ -186508,7 +186820,7 @@ xref: MESH:C535309 {source="MONDO:equivalentTo"} xref: OMIM:210210 {source="MONDO:equivalentTo"} xref: Orphanet:6 {source="OMIM:210210"} xref: UMLS:C1859499 {source="MONDO:equivalentTo", source="MEDGEN:347898", source="MONDO:MEDGEN"} -is_a: MONDO:0018950 {source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency +is_a: MONDO:0018950 {source="DOID:0080580", source="MONDO:Redundant", source="OMIM:210210", source="Orphanet:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 ! MCCC2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6937 {source="MONDO:mim2gene_medgen"} ! MCCC2 @@ -186937,7 +187249,7 @@ xref: OMIM:210900 {source="Orphanet:125", source="MONDO:equivalentTo", source="O xref: Orphanet:125 {source="MONDO:equivalentTo", source="OMIM:210900", source="DOID:2717"} xref: SCTID:4434006 {source="MONDO:equivalentTo", source="DOID:2717"} xref: UMLS:C0005859 {source="MONDO:equivalentTo", source="MEDGEN:2685", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:2717", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005093 {source="MONDO:0019304-obsoleted"} ! skin disorder is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0006025 {source="DOID:2717", source="MONDO:Redundant"} ! autosomal recessive disease @@ -187181,7 +187493,7 @@ xref: Orphanet:1299 {source="OMIM:211380", source="MONDO:equivalentTo", source=" xref: Orphanet:157788 {source="MONDO:equivalentObsolete", source="OMIM:603463"} xref: SCTID:719097002 {source="MONDO:equivalentTo"} xref: UMLS:C0809936 {source="MEDGEN:923028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080631", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="Orphanet:157788/inferred"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:1299"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1299", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -187401,7 +187713,7 @@ xref: OMIM:211600 {source="Orphanet:79306", source="GARD:0009802", source="MONDO xref: Orphanet:172 {source="OMIM:211600"} xref: Orphanet:79306 {source="GARD:0009802", source="MONDO:equivalentTo", source="OMIM:211600"} xref: UMLS:C4551898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645830"} -is_a: MONDO:0015762 {source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="DOID:0070226", source="OMIM:211600", source="Orphanet:79306"} ! progressive familial intrahepatic cholestasis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -187816,7 +188128,7 @@ xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"} xref: SCTID:459063003 {source="MONDO:equivalentTo"} xref: UMLS:C0349653 {source="MEDGEN:138111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:212065"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:212065", source="DOID:0080552", source="OMIM:212065"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535739", source="MONDO:0008907/inferred", source="MONDO:Redundant", source="NCIT:C126868", source="OMIM:212065", source="Orphanet:79318/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder @@ -187865,7 +188177,7 @@ xref: Orphanet:79329 {source="OMIM:212066", source="MONDO:equivalentTo"} xref: SCTID:724142005 {source="MONDO:equivalentTo"} xref: UMLS:C2931008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443956"} is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder -is_a: MONDO:0005501 {source="DC-OMIM:212066", source="OMIM:212066"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:212066", source="DOID:0070253", source="OMIM:212066"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:79329"} ! disorder of protein N-glycosylation @@ -188194,7 +188506,7 @@ xref: UMLS:C1859317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005267 ! heart disorder is_a: MONDO:0016801 {source="Orphanet:1369"} ! mitochondrial substrate carrier disorder is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis -is_a: MONDO:0018158 {source="OMIM:212350"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0080132", source="OMIM:212350"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0044970 {source="Orphanet:1369", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21869 {source="MONDO:mim2gene_medgen"} ! AGK property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome" xsd:anyURI {source="GARD:0001142"} @@ -188231,7 +188543,7 @@ xref: OMIM:212360 {source="Orphanet:1366", source="MONDO:equivalentTo", source=" xref: Orphanet:1366 {source="OMIM:212360", source="MONDO:equivalentTo"} xref: UMLS:C1859316 {source="MEDGEN:347851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma -is_a: MONDO:0019287 {source="Orphanet:1366"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111245", source="Orphanet:1366"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:212360", source="Orphanet:1366"} ! Autosomal recessive inheritance property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia" xsd:anyURI {source="GARD:0001139"} @@ -188962,7 +189274,7 @@ xref: OMIM:214150 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:214150"} xref: Orphanet:191 {source="OMIM:214150"} xref: UMLS:C0220722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:66320"} -is_a: MONDO:0008926 {source="DC-OMIM:214150", source="MONDO:Redundant", source="OMIM:214150"} ! COFS syndrome +is_a: MONDO:0008926 {source="DC-OMIM:214150", source="DOID:0080911", source="MONDO:Redundant", source="OMIM:214150"} ! COFS syndrome intersection_of: MONDO:0008926 ! COFS syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 ! ERCC6 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:214150"} ! Autosomal recessive inheritance @@ -189010,7 +189322,7 @@ xref: MESH:C536888 {source="MONDO:equivalentTo"} xref: OMIM:214300 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:214300"} xref: UMLS:C1859209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395201"} -is_a: MONDO:0001029 {source="MESH:C536888", source="MONDO:Redundant", source="OMIM:214300"} ! Klippel-Feil syndrome +is_a: MONDO:0001029 {source="DOID:0080590", source="MESH:C536888", source="MONDO:Redundant", source="OMIM:214300"} ! Klippel-Feil syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7013 {source="MONDO:mim2gene_medgen"} ! MEOX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -189905,7 +190217,7 @@ xref: OMIM:215700 {source="DOID:0070340", source="Orphanet:247525", source="MOND xref: Orphanet:247525 {source="MONDO:equivalentTo", source="OMIM:215700"} xref: SCTID:398680004 {source="MONDO:equivalentTo"} xref: UMLS:C4721769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648491"} -is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="Orphanet:247525"} ! citrullinemia +is_a: MONDO:0015991 {source="DC-OMIM:215700", source="DOID:0070340", source="NCIT:C150601", source="OMIM:215700", source="Orphanet:247525"} ! citrullinemia is_a: MONDO:0800153 {source="PMID:33340416"} ! urea cycle disorder or inherited hyperammonemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/758 {source="MONDO:mim2gene_medgen"} ! ASS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -190544,7 +190856,7 @@ xref: OMIM:217400 {source="Orphanet:1490/e", source="MONDO:equivalentTo", source xref: Orphanet:1490 {source="OMIM:217400", source="MONDO:equivalentTo"} xref: SCTID:720749004 {source="MONDO:equivalentTo"} xref: UMLS:C1857572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387858"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111620", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16438 {source="MONDO:mim2gene_medgen"} ! SLC4A11 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -190604,7 +190916,7 @@ xref: OMIM:217600 {source="Orphanet:98972", source="MONDO:equivalentTo", source= xref: Orphanet:98972 {source="OMIM:217600", source="MONDO:equivalentTo"} xref: SCTID:419074008 {source="MONDO:equivalentTo"} xref: UMLS:C1622427 {source="MONDO:equivalentTo", source="MEDGEN:302006", source="MONDO:MEDGEN"} -is_a: MONDO:0020213 {source="Orphanet:98972-textdef"} ! stromal corneal dystrophy +is_a: MONDO:0020213 {source="Orphanet:98972", source="Orphanet:98972-textdef"} ! stromal corneal dystrophy is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy [Term] @@ -191088,7 +191400,8 @@ xref: MESH:C536570 {source="MONDO:equivalentTo"} xref: OMIM:218400 {source="MONDO:equivalentTo"} xref: Orphanet:1522 {source="OMIM:218400"} xref: UMLS:C2931244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419753"} -is_a: MONDO:0015465 {source="DC-OMIM:218400", source="MONDO:Entailed", source="MONDO:Redundant"} ! craniometaphyseal dysplasia +is_a: MONDO:0006025 {source="DOID:0080802"} ! autosomal recessive disease +is_a: MONDO:0015465 {source="DC-OMIM:218400", source="DOID:0080802", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:218400"} ! craniometaphyseal dysplasia intersection_of: MONDO:0015465 {source="MONDO:mim2gene_medgen"} ! craniometaphyseal dysplasia intersection_of: has_characteristic HP:0000007 {source="MONDO:mim2gene_medgen"} ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4274 {source="MONDO:mim2gene_medgen"} ! GJA1 @@ -191382,7 +191695,7 @@ xref: OMIMPS:219000 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:2052 {source="DOID:0090001", source="MONDO:equivalentTo", source="OMIM:219000"} xref: SCTID:204102004 {source="MONDO:equivalentTo"} xref: UMLS:C0265233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82692"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118436"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0090001", source="MONDO:Redundant", source="NCIT:C118436"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0090001", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:2052"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0020153 {source="Orphanet:2052"} ! cryptophthalmia @@ -191470,7 +191783,7 @@ xref: SCTID:720459002 {source="MONDO:equivalentTo"} xref: UMLS:C2062388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923388"} is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:189427"} ! adrenal gland disorder is_a: MONDO:0018912 {source="MESH:C565662", source="MONDO:0009049/inferred", source="MONDO:Redundant", source="Orphanet:189427"} ! Cushing syndrome -is_a: MONDO:0020529 {source="https://orcid.org/0000-0002-6601-2165"} ! ACTH-independent Cushing syndrome +is_a: MONDO:0020529 {source="Orphanet:189427", source="https://orcid.org/0000-0002-6601-2165"} ! ACTH-independent Cushing syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia" xsd:anyURI {source="GARD:0010824"} @@ -192341,7 +192654,7 @@ xref: Orphanet:3231 {source="OMIM:220500"} xref: Orphanet:79500 {source="GARD:0001685", source="MONDO:equivalentTo", source="OMIM:220500"} xref: SCTID:719800009 {source="MONDO:equivalentTo"} xref: UMLS:C0795934 {source="MEDGEN:208648", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111627", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -192426,7 +192739,7 @@ xref: OMIM:221200 {source="Orphanet:363396", source="MONDO:equivalentTo", source xref: Orphanet:363396 {source="MONDO:equivalentTo", source="OMIM:221200"} xref: SCTID:720506002 {source="MONDO:equivalentTo"} xref: UMLS:C3806275 {source="MEDGEN:812605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111628", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23503 {source="MONDO:mim2gene_medgen"} ! SLITRK6 [Term] @@ -193167,7 +193480,7 @@ xref: OMIM:222748 {source="Orphanet:38874/e", source="MONDO:equivalentTo", sourc xref: Orphanet:38874 {source="OMIM:222748", source="MONDO:equivalentTo"} xref: SCTID:238014002 {source="MONDO:equivalentTo"} xref: UMLS:C0342803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83353"} -is_a: MONDO:0019238 {source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism +is_a: MONDO:0019238 {source="DOID:0111629", source="Orphanet:38874"} ! inborn disorder of pyrimidine metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3013 {source="MONDO:mim2gene_medgen"} ! DPYS [Term] @@ -193480,7 +193793,7 @@ xref: SCTID:237923004 {source="MONDO:equivalentTo"} xref: UMLS:C4746777 {source="MONDO:equivalentTo", source="MEDGEN:1648402", source="MONDO:MEDGEN"} is_a: MONDO:0015914 {source="Orphanet:230"} ! primary orthostatic hypotension is_a: MONDO:0017759 {source="Orphanet:230"} ! disorder of catecholamine synthesis -is_a: MONDO:0021272 ! inherited orthostatic hypotension +is_a: MONDO:0021272 {source="OMIM:223360", source="Orphanet:230"} ! inherited orthostatic hypotension relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2689 {source="MONDO:mim2gene_medgen"} ! DBH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency" xsd:anyURI {source="GARD:0001903"} @@ -193747,7 +194060,7 @@ xref: OMIMPS:224050 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:equivalentTo", source="OMIM:224050"} xref: SCTID:230782004 {source="MONDO:equivalentTo"} xref: UMLS:C0394006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98295"} -is_a: MONDO:0002254 {source="NCIT:C114781"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050997", source="NCIT:C114781"} ! syndromic disease is_a: MONDO:0020043 {source="Orphanet:1766"} ! autosomal recessive congenital cerebellar ataxia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:224050"} ! inherited property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome" xsd:anyURI {source="GARD:0001998"} @@ -193790,7 +194103,7 @@ xref: Orphanet:98873 {source="OMIM:224100", source="MONDO:equivalentTo"} xref: SCTID:68870007 {source="MONDO:equivalentTo"} xref: UMLS:C1306589 {source="MEDGEN:266296", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017749 {source="Orphanet:98873"} ! disorder of multiple glycosylation -is_a: MONDO:0019403 {source="DC-OMIM:224100", source="OMIM:224100", source="Orphanet:98873"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="DC-OMIM:224100", source="DOID:0111401", source="OMIM:224100", source="Orphanet:98873"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 {source="MONDO:mim2gene_medgen"} ! SEC23B property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -193814,7 +194127,7 @@ xref: OMIM:224120 {source="MONDO:equivalentTo"} xref: Orphanet:98869 {source="OMIM:224120"} xref: UMLS:C5574667 {source="MEDGEN:1807106", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:224120"} ! congenital dyserythropoietic anemia -is_a: MONDO:0020337 ! congenital dyserythropoietic anemia type 1 +is_a: MONDO:0020337 {source="DOID:0111398"} ! congenital dyserythropoietic anemia type 1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1713 {source="MONDO:mim2gene_medgen"} ! CDAN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -194019,7 +194332,7 @@ xref: OMIM:224690 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:224690"} xref: SCTID:703508009 {source="MONDO:equivalentTo"} xref: UMLS:C4552001 {source="MEDGEN:1641240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016817 {source="DC-OMIM:224690", source="MONDO:Redundant", source="OMIM:224690"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:224690", source="DOID:0080512", source="MONDO:Redundant", source="OMIM:224690"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8487 ! ORC1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:224690"} ! Autosomal recessive inheritance @@ -194272,7 +194585,7 @@ xref: SCTID:716248001 {source="MONDO:equivalentTo"} xref: UMLS:C2931488 {source="MEDGEN:444067", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060"} ! orofacial cleft is_a: MONDO:0006025 {source="DOID:0060773", source="MONDO:Redundant"} ! autosomal recessive disease -is_a: MONDO:0019287 {source="MONDO:0009151/inferred", source="MONDO:Redundant", source="NCIT:C122656", source="Orphanet:320317", source="Orphanet:3253/inferred"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDO:0009151/inferred", source="MONDO:Redundant", source="NCIT:C122656", source="Orphanet:320317", source="Orphanet:3253", source="Orphanet:3253/inferred"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225060", source="Orphanet:3253"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9706 {source="MONDO:mim2gene_medgen"} ! NECTIN1 @@ -194376,7 +194689,7 @@ xref: SCTID:720856002 {source="MONDO:equivalentTo"} xref: UMLS:C1857041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341679"} is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -is_a: MONDO:0019287 {source="MESH:C536190", source="Orphanet:1897"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111649", source="MESH:C536190", source="Orphanet:1897"} ! ectodermal dysplasia syndrome is_a: MONDO:0020242 {source="Orphanet:1897"} ! hereditary macular dystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1762 {source="MONDO:mim2gene_medgen"} ! CDH3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -194495,7 +194808,7 @@ xref: Orphanet:230851 {source="OMIM:225320", source="MONDO:equivalentTo"} xref: SCTID:720858001 {source="MONDO:equivalentTo"} xref: UMLS:C4303789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:929458"} is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder -is_a: MONDO:0020066 {source="DC-OMIM:225320", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DC-OMIM:225320", source="DOID:0080730", source="MESH:C536200", source="OMIM:225320", source="Orphanet:230851"} ! Ehlers-Danlos syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2198 {source="MONDO:mim2gene_medgen"} ! COL1A2 [Term] @@ -194538,7 +194851,7 @@ xref: OMIM:225410 {source="Orphanet:1901/e", source="MONDO:equivalentTo", source xref: Orphanet:1901 {source="OMIM:225410", source="MONDO:equivalentTo"} xref: SCTID:55711009 {source="MONDO:equivalentTo"} xref: UMLS:C2700425 {source="MEDGEN:397792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020066 {source="DC-OMIM:225410", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DC-OMIM:225410", source="DOID:0080733", source="MESH:C567527", source="OMIM:225410", source="Orphanet:1901"} ! Ehlers-Danlos syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/218 {source="MONDO:mim2gene_medgen"} ! ADAMTS2 [Term] @@ -195068,7 +195381,7 @@ xref: Orphanet:79405 {source="OMIM:226650", source="MONDO:directSiblingOf"} xref: Orphanet:89840 {source="OMIM:226650", source="MONDO:equivalentObsolete"} xref: SCTID:33662006 {source="MONDO:equivalentTo"} xref: UMLS:C0268374 {source="MEDGEN:82798", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017612 {source="DC-OMIM:226650", source="Orphanet:89840"} ! junctional epidermolysis bullosa +is_a: MONDO:0017612 {source="DC-OMIM:226650", source="OMIM:226650", source="Orphanet:89840"} ! junctional epidermolysis bullosa disjoint_from: MONDO:0009182 ! junctional epidermolysis bullosa Herlitz type [Term] @@ -195102,10 +195415,10 @@ xref: OMIM:226670 {source="Orphanet:257", source="GARD:0002137", source="MONDO:e xref: Orphanet:257 {source="OMIM:226670", source="GARD:0002137", source="MONDO:equivalentTo", source="DOID:0090017"} xref: SCTID:723308003 {source="MONDO:equivalentTo"} xref: UMLS:C2931072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:418981"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0090017", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0015152 {source="Orphanet:257"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016198 {source="Orphanet:257"} ! qualitative or quantitative defects of plectin -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:226670", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -195148,7 +195461,7 @@ xref: OMIM:226700 {source="Orphanet:79404", source="MONDO:equivalentTo", source= xref: Orphanet:79404 {source="MONDO:equivalentTo", source="OMIM:226700", source="DOID:0060737"} xref: SCTID:400140006 {source="MONDO:equivalentTo"} xref: UMLS:C0079683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:36328"} -is_a: MONDO:0017612 {source="DC-OMIM:226700", source="DOID:0060737", source="Orphanet:79404"} ! junctional epidermolysis bullosa +is_a: MONDO:0017612 {source="DC-OMIM:226700", source="DOID:0060737", source="OMIM:226700", source="Orphanet:79404"} ! junctional epidermolysis bullosa property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type" xsd:anyURI {source="GARD:0002153"} [Term] @@ -195185,7 +195498,7 @@ xref: NANDO:2201380 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:226730 {source="Orphanet:79403", source="MONDO:equivalentTo", source="Orphanet:79403/e", source="DOID:0060733"} xref: Orphanet:79403 {source="OMIM:226730", source="MONDO:equivalentTo", source="DOID:0060733"} xref: UMLS:C5676875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810975"} -is_a: MONDO:0017612 {source="DOID:0060733", source="Orphanet:79403"} ! junctional epidermolysis bullosa +is_a: MONDO:0017612 {source="DOID:0060733", source="OMIM:226730", source="Orphanet:79403"} ! junctional epidermolysis bullosa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia" xsd:anyURI {source="GARD:0009694"} @@ -195333,7 +195646,7 @@ xref: Orphanet:93307 {source="MONDO:equivalentTo", source="OMIM:226900"} xref: SCTID:715672007 {source="MONDO:equivalentTo"} xref: UMLS:C1847593 {source="MEDGEN:376164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease -is_a: MONDO:0016648 {source="DC-OMIM:226900", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307"} ! multiple epiphyseal dysplasia +is_a: MONDO:0016648 {source="DC-OMIM:226900", source="DOID:0070300", source="MONDO:Redundant", source="OMIM:226900", source="Orphanet:93307"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 ! SLC26A2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10994 {source="MONDO:mim2gene_medgen"} ! SLC26A2 @@ -195413,7 +195726,7 @@ xref: OMIM:226980 {source="GARD:0005589", source="MONDO:equivalentTo", source="O xref: Orphanet:1667 {source="GARD:0005589", source="OMIM:226980", source="MONDO:equivalentTo", source="DOID:0090060"} xref: SCTID:254066006 {source="MONDO:equivalentTo"} xref: UMLS:C0432217 {source="MEDGEN:140926", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C131007", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0090060", source="NCIT:C131007", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0090060", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016761 {source="Orphanet:1667", source="PMID:31633310"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:1667", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus @@ -196324,7 +196637,7 @@ xref: MEDGEN:479768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:228520 {source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="OMIM:228520"} xref: UMLS:C3278138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:479768"} -is_a: MONDO:0016068 {source="DC-OMIM:228520", source="MONDO:Redundant", source="OMIM:228520"} ! fibrochondrogenesis +is_a: MONDO:0016068 {source="DC-OMIM:228520", source="DOID:0080672", source="MONDO:Redundant", source="OMIM:228520"} ! fibrochondrogenesis intersection_of: MONDO:0016068 ! fibrochondrogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 @@ -196457,7 +196770,7 @@ xref: UMLS:C1856738 {source="MEDGEN:346432", source="MONDO:equivalentTo", source is_a: MONDO:0006025 {source="DOID:0050790", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation -is_a: MONDO:0019696 {source="OMIM:228900", source="Orphanet:2639", source="PMID:31633310"} ! acromesomelic dysplasia +is_a: MONDO:0019696 {source="DOID:0050790", source="OMIM:228900", source="Orphanet:2639", source="PMID:31633310"} ! acromesomelic dysplasia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:228900", source="Orphanet:2639"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -196809,7 +197122,7 @@ xref: SCTID:719096006 {source="MONDO:equivalentTo"} is_a: MONDO:0000942 {source="DOID:14775"} ! corneal disorder is_a: MONDO:0003900 ! connective tissue disorder is_a: MONDO:0005328 ! eye disorder -is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:14775", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020066 {source="DOID:14775", source="Orphanet:90354"} ! Ehlers-Danlos syndrome relationship: has_characteristic HP:0000007 {source="Orphanet:90354"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021136 ! rare @@ -197100,7 +197413,7 @@ xref: UMLS:C0016788 {source="MEDGEN:5288", source="MONDO:equivalentTo", source=" is_a: MONDO:0002561 {source="DOID:14500", source="MESH:D005645/inferred", source="MONDO:Redundant", source="NCIT:C61274", source="Orphanet:349/inferred"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:349", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4006 {source="MONDO:mim2gene_medgen"} ! FUCA1 @@ -197144,7 +197457,7 @@ xref: Orphanet:79237 {source="MONDO:equivalentTo", source="OMIM:230200"} xref: SCTID:124302001 {source="MONDO:equivalentTo", source="DOID:14695"} xref: SCTID:18612007 {source="DOID:14695"} xref: UMLS:C0268155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120614"} -is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="Orphanet:79237"} ! galactosemia +is_a: MONDO:0018116 {source="DOID:14695", source="NCIT:C114767", source="OMIM:230200", source="Orphanet:79237"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4118 {source="MONDO:mim2gene_medgen"} ! GALK1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -197199,7 +197512,7 @@ xref: Orphanet:79238 {source="MONDO:equivalentTo", source="OMIM:230350"} xref: SCTID:8849004 {source="MONDO:equivalentTo"} xref: UMLS:C0751161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199598"} is_a: MONDO:0005066 {source="Orphanet:79238", source="Orphanet:79238/inferred"} ! metabolic disease -is_a: MONDO:0018116 {source="Orphanet:79238"} ! galactosemia +is_a: MONDO:0018116 {source="DOID:0111458", source="OMIM:230350", source="Orphanet:79238"} ! galactosemia relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4116 {source="MONDO:mim2gene_medgen"} ! GALE property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency" xsd:anyURI {source="GARD:0005392"} @@ -197238,7 +197551,7 @@ xref: Orphanet:79239 {source="MONDO:equivalentTo", source="OMIM:230400"} xref: SCTID:10899004 {source="MONDO:equivalentTo"} xref: UMLS:C0268151 {source="MONDO:equivalentTo", source="MEDGEN:82777", source="MONDO:MEDGEN"} is_a: MONDO:0005066 {source="Orphanet:79239", source="Orphanet:79239/inferred"} ! metabolic disease -is_a: MONDO:0018116 {source="Orphanet:79239"} ! galactosemia +is_a: MONDO:0018116 {source="DOID:0111459", source="OMIM:230400", source="Orphanet:79239"} ! galactosemia is_a: MONDO:0019852 {source="Orphanet:79239"} ! inherited primary ovarian failure is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare @@ -197323,7 +197636,7 @@ xref: Orphanet:79255 {source="GARD:0006479", source="MONDO:equivalentTo", source xref: SCTID:238026007 {source="MONDO:equivalentTo"} xref: UMLS:C0268271 {source="MEDGEN:75665", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0018149 {source="DC-OMIM:230500", source="Orphanet:79255"} ! GM1 gangliosidosis +is_a: MONDO:0018149 {source="DC-OMIM:230500", source="DOID:0080502", source="Orphanet:79255"} ! GM1 gangliosidosis is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -197364,7 +197677,7 @@ xref: Orphanet:354 {source="OMIM:230600"} xref: Orphanet:79256 {source="MONDO:equivalentTo", source="OMIM:230600"} xref: SCTID:18756002 {source="MONDO:equivalentTo"} xref: UMLS:C0268272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120625"} -is_a: MONDO:0018149 {source="DC-OMIM:230600", source="Orphanet:79256"} ! GM1 gangliosidosis +is_a: MONDO:0018149 {source="DC-OMIM:230600", source="DOID:0080501", source="Orphanet:79256"} ! GM1 gangliosidosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2" xsd:anyURI {source="GARD:0010126"} @@ -197403,7 +197716,7 @@ xref: Orphanet:354 {source="OMIM:230650"} xref: Orphanet:79257 {source="MONDO:equivalentTo", source="OMIM:230650"} xref: SCTID:238027003 {source="MONDO:equivalentTo"} xref: UMLS:C0268273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78655"} -is_a: MONDO:0018149 {source="DC-OMIM:230650", source="Orphanet:79257"} ! GM1 gangliosidosis +is_a: MONDO:0018149 {source="DC-OMIM:230650", source="DOID:0080489", source="Orphanet:79257"} ! GM1 gangliosidosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4298 {source="MONDO:mim2gene_medgen"} ! GLB1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3" xsd:anyURI {source="GARD:0002431"} @@ -197647,7 +197960,7 @@ xref: MEDGEN:479777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:231050 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:231050"} xref: UMLS:C3278147 {source="MONDO:equivalentTo", source="MEDGEN:479777", source="MONDO:MEDGEN"} -is_a: MONDO:0000127 {source="DC-OMIM:231050", source="MONDO:Redundant", source="OMIM:231050"} ! geleophysic dysplasia +is_a: MONDO:0000127 {source="DC-OMIM:231050", source="DOID:0111725", source="MONDO:Redundant", source="OMIM:231050"} ! geleophysic dysplasia is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia intersection_of: MONDO:0000127 ! geleophysic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14631 ! ADAMTSL2 @@ -197993,7 +198306,7 @@ xref: Orphanet:869 {source="MONDO:equivalentTo", source="OMIM:231550"} xref: Orphanet:99777 {source="OMIM:231550"} xref: SCTID:45414006 {source="MONDO:equivalentTo"} xref: UMLS:C0271742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82889"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C131005"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050602", source="MONDO:Redundant", source="NCIT:C131005"} ! syndromic disease is_a: MONDO:0005495 {source="EFO:1001997/inferred", source="MONDO:Entailed", source="Orphanet:869", source="Orphanet:869/inferred"} ! adrenal gland disorder is_a: MONDO:0006025 {source="DOID:0050602", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015129 {source="Orphanet:869", source="Orphanet:869/inferred"} ! chronic primary adrenal insufficiency @@ -198054,7 +198367,7 @@ xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"} xref: SCTID:76175005 {source="MONDO:equivalentTo"} xref: UMLS:C0268595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124337"} is_a: MONDO:0000129 {source="DC-OMIM:231670"} ! glutaric aciduria -is_a: MONDO:0000688 {source="PMID:33340416"} ! inborn organic aciduria +is_a: MONDO:0000688 {source="DOID:0111254", source="PMID:33340416"} ! inborn organic aciduria is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4189 {source="MONDO:mim2gene_medgen"} ! GCDH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -198190,7 +198503,7 @@ xref: OMIM:231900 {source="Orphanet:289849/e", source="MONDO:equivalentTo", sour xref: Orphanet:289849 {source="OMIM:231900", source="MONDO:equivalentTo"} xref: Orphanet:32 {source="OMIM:231900"} xref: UMLS:C1856399 {source="MEDGEN:343541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017909 {source="Orphanet:289849"} ! inherited glutathione synthetase deficiency +is_a: MONDO:0017909 {source="DOID:0112252", source="Orphanet:289849"} ! inherited glutathione synthetase deficiency is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -198294,7 +198607,7 @@ xref: Orphanet:79258 {source="MONDO:equivalentTo", source="OMIM:232200"} xref: SCTID:444707001 {source="MONDO:equivalentTo"} xref: UMLS:C2919796 {source="MEDGEN:415885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism -is_a: MONDO:0002413 {source="Orphanet:79258"} ! glycogen storage disease I +is_a: MONDO:0002413 {source="DOID:2749", source="Orphanet:79258"} ! glycogen storage disease I intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4056 ! G6PC1 relationship: disease_has_basis_in_disruption_of GO:0004346 ! glucose-6-phosphatase activity @@ -198440,7 +198753,7 @@ xref: SCTID:267424007 {source="DOID:2752"} xref: SCTID:274864009 {source="MONDO:equivalentTo"} xref: SCTID:76219003 {source="DOID:2752"} xref: UMLS:C0017921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:5340"} -is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="Orphanet:365"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="MONDO:Redundant", source="NCIT:C84734", source="OMIM:232300", source="Orphanet:365"} ! disorder of glycogen metabolism is_a: MONDO:0016340 ! familial restrictive cardiomyopathy is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism @@ -198506,7 +198819,7 @@ xref: Orphanet:366 {source="MONDO:equivalentTo", source="OMIM:232400"} xref: SCTID:124474000 {source="DOID:2748"} xref: SCTID:66937008 {source="MONDO:equivalentTo", source="DOID:2748"} xref: UMLS:C0017922 {source="MEDGEN:6641", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="Orphanet:366", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="MONDO:Redundant", source="NCIT:C84736", source="OMIM:232400", source="Orphanet:366", source="PMID:33340416"} ! disorder of glycogen metabolism intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 ! AGL relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/321 {source="MONDO:mim2gene_medgen"} ! AGL @@ -198577,7 +198890,7 @@ xref: SCTID:11179002 {source="DOID:2750"} xref: SCTID:124267007 {source="DOID:2750", source="MONDO:equivalentTo"} xref: SCTID:190742009 {source="DOID:2750"} xref: UMLS:C0017923 {source="MEDGEN:6642", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="MONDO:Redundant", source="NCIT:C84737", source="Orphanet:367"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="MONDO:Redundant", source="NCIT:C84737", source="OMIM:232500", source="Orphanet:367"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:367"} ! metabolic disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4180 ! GBE1 @@ -198634,7 +198947,7 @@ xref: OMIM:232600 {source="Orphanet:368", source="MONDO:equivalentTo", source="O xref: Orphanet:368 {source="MONDO:equivalentTo", source="OMIM:232600"} xref: SCTID:55912009 {source="MONDO:equivalentTo", source="DOID:2746"} xref: UMLS:C0017924 {source="MEDGEN:5341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="Orphanet:368", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="MONDO:Redundant", source="NCIT:C84738", source="OMIM:232600", source="Orphanet:368", source="PMID:33340416"} ! disorder of glycogen metabolism intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 ! PYGM relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9726 {source="MONDO:mim2gene_medgen"} ! PYGM @@ -198689,7 +199002,7 @@ xref: Orphanet:369 {source="DOID:2754", source="MONDO:equivalentTo", source="OMI xref: SCTID:237971004 {source="DOID:2754"} xref: SCTID:29291001 {source="DOID:2754", source="MONDO:equivalentTo"} xref: UMLS:C0017925 {source="MEDGEN:6643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="Orphanet:369", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="MONDO:Redundant", source="NCIT:C126875", source="OMIM:232700", source="Orphanet:369", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:369"} ! metabolic disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9725 ! PYGL @@ -198747,7 +199060,7 @@ xref: Orphanet:371 {source="MONDO:equivalentTo", source="OMIM:232800"} xref: SCTID:234406005 {source="DOID:11721"} xref: SCTID:89597008 {source="DOID:11721", source="MONDO:equivalentTo"} xref: UMLS:C0017926 {source="MEDGEN:5342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="Orphanet:371"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="MONDO:Redundant", source="NCIT:C118437", source="OMIM:232800", source="Orphanet:371"} ! disorder of glycogen metabolism is_a: MONDO:0003664 ! hemolytic anemia is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis is_a: MONDO:0020585 ! anemia due to erythrocyte enzyme disorder @@ -198888,7 +199201,7 @@ xref: OMIM:233400 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:233400"} xref: Orphanet:642945 {source="MONDO:equivalentTo"} xref: UMLS:C4551721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640257"} -is_a: MONDO:0017312 {source="DC-OMIM:233400", source="MONDO:Redundant", source="OMIM:233400"} ! Perrault syndrome +is_a: MONDO:0017312 {source="DC-OMIM:233400", source="MONDO:Redundant", source="OMIM:233400", source="Orphanet:642945"} ! Perrault syndrome intersection_of: MONDO:0017312 ! Perrault syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5213 ! HSD17B4 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:233400"} ! Autosomal recessive inheritance @@ -198915,7 +199228,7 @@ xref: MESH:C565537 {source="MONDO:equivalentTo"} xref: OMIM:233420 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:233420"} xref: UMLS:C1856273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383876"} -is_a: MONDO:0010765 {source="MESH:C565537", source="OMIM:233420", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111774", source="MESH:C565537", source="OMIM:233420", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2865 {source="MONDO:mim2gene_medgen"} ! DHH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -199078,7 +199391,7 @@ xref: NANDO:2201280 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:233690 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233690"} xref: UMLS:C1856255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383872"} -is_a: MONDO:0018305 {source="DC-OMIM:233690", source="MESH:C565533", source="OMIM:233690"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DC-OMIM:233690", source="DOID:0070193", source="MESH:C565533", source="OMIM:233690"} ! chronic granulomatous disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2577 {source="MONDO:mim2gene_medgen"} ! CYBA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -199110,7 +199423,7 @@ xref: NANDO:2201281 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:233700 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233700"} xref: UMLS:C1856251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341102"} -is_a: MONDO:0018305 {source="DC-OMIM:233700", source="MESH:C565532", source="MONDO:Redundant", source="OMIM:233700"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DC-OMIM:233700", source="DOID:0070192", source="MESH:C565532", source="MONDO:Redundant", source="OMIM:233700"} ! chronic granulomatous disease intersection_of: MONDO:0018305 ! chronic granulomatous disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 ! NCF1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7660 {source="MONDO:mim2gene_medgen"} ! NCF1 @@ -199142,7 +199455,7 @@ xref: NANDO:2201282 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:233710 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233710"} xref: UMLS:C1856245 {source="MEDGEN:383869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018305 {source="DC-OMIM:233710", source="MESH:C565531", source="MONDO:Redundant", source="OMIM:233710"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DC-OMIM:233710", source="DOID:0070191", source="MESH:C565531", source="MONDO:Redundant", source="OMIM:233710"} ! chronic granulomatous disease intersection_of: MONDO:0018305 ! chronic granulomatous disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 ! NCF2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7661 {source="MONDO:mim2gene_medgen"} ! NCF2 @@ -199590,7 +199903,7 @@ xref: OMIM:234810 {source="Orphanet:199241", source="MONDO:equivalentTo", source xref: Orphanet:199241 {source="MONDO:equivalentTo", source="OMIM:234810", source="https://orcid.org/0000-0001-5208-3432"} xref: SCTID:233949008 {source="MONDO:equivalentTo"} xref: UMLS:C0340848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90956"} -is_a: MONDO:0009937 {source="OMIM:234810"} ! pulmonary venoocclusive disease +is_a: MONDO:0009937 {source="DOID:0081269", source="OMIM:234810"} ! pulmonary venoocclusive disease intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19687 ! EIF2AK4 relationship: excluded_subClassOf MONDO:0018554 {source="Orphanet:199241", source="https://orcid.org/0000-0001-5208-3432"} ! pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis @@ -199758,7 +200071,7 @@ xref: MEDGEN:860487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:235510 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:235510"} xref: UMLS:C4012050 {source="MONDO:equivalentTo", source="MEDGEN:860487", source="MONDO:MEDGEN"} -is_a: MONDO:0016256 {source="DC-OMIM:235510", source="MONDO:Redundant"} ! Hennekam syndrome +is_a: MONDO:0016256 {source="DC-OMIM:235510", source="MONDO:Redundant", source="OMIM:235510"} ! Hennekam syndrome intersection_of: MONDO:0016256 ! Hennekam syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 ! CCBE1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29426 {source="MONDO:mim2gene_medgen"} ! CCBE1 @@ -200019,7 +200332,7 @@ xref: OMIM:235800 {source="Orphanet:2157", source="MONDO:equivalentTo", source=" xref: Orphanet:2157 {source="MONDO:equivalentTo", source="OMIM:235800"} xref: SCTID:410058007 {source="MONDO:equivalentTo"} xref: UMLS:C0220992 {source="MEDGEN:113135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019228 {source="DOID:0060168", source="PMID:33340416"} ! inborn disorder of histidine metabolism +is_a: MONDO:0019228 {source="DOID:0060168", source="Orphanet:2157", source="PMID:33340416"} ! inborn disorder of histidine metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4806 {source="MONDO:mim2gene_medgen"} ! HAL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -200396,7 +200709,7 @@ xref: MEDGEN:854455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:236600 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="OMIM:236600"} xref: UMLS:C3887608 {source="MEDGEN:854455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus +is_a: MONDO:0016349 {source="MONDO:Redundant", source="OMIM:236600", source="Orphanet:2185/btnt"} ! congenital hydrocephalus intersection_of: MONDO:0016349 ! congenital hydrocephalus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19967 ! CCDC88C relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -200525,7 +200838,7 @@ xref: MESH:C565504 {source="MONDO:equivalentTo"} xref: OMIM:236680 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="OMIM:236680"} xref: UMLS:C1856016 {source="MEDGEN:343455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006037 {source="DC-OMIM:236680", source="MONDO:Redundant", source="OMIM:236680"} ! hydrolethalus syndrome +is_a: MONDO:0006037 {source="DC-OMIM:236680", source="DOID:0111355", source="MONDO:Redundant", source="OMIM:236680"} ! hydrolethalus syndrome intersection_of: MONDO:0006037 ! hydrolethalus syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26558 ! HYLS1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236680"} ! Autosomal recessive inheritance @@ -201138,7 +201451,7 @@ xref: SCTID:34171006 {source="DOID:14118"} xref: SCTID:403827000 {source="DOID:14118"} xref: UMLS:C0023817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:7352"} is_a: MONDO:0001336 {source="DC-OMIM:238600", source="DOID:14118", source="MONDO:indirect"} ! familial hyperlipidemia -is_a: MONDO:0018637 {source="Orphanet:309015"} ! familial chylomicronemia syndrome +is_a: MONDO:0018637 {source="DOID:14118", source="Orphanet:309015"} ! familial chylomicronemia syndrome is_a: MONDO:0037748 {source="NCIT:C84771"} ! hyperlipoproteinemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6677 {source="MONDO:mim2gene_medgen"} ! LPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -201314,7 +201627,7 @@ xref: OMIM:239000 {source="MONDO:equivalentTo", source="Orphanet:2801", source=" xref: Orphanet:2801 {source="MONDO:equivalentTo", source="OMIM:239000"} xref: SCTID:9723006 {source="MONDO:equivalentTo"} xref: UMLS:C0268414 {source="MEDGEN:75678", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005382 {source="DC-OMIM:239000", source="NCIT:C131861", source="OMIM:239000"} ! bone Paget disease +is_a: MONDO:0005382 {source="DC-OMIM:239000", source="DOID:0081368", source="NCIT:C131861", source="OMIM:239000"} ! bone Paget disease relationship: disease_has_feature HP:0011001 {source="Orphanet:2801"} ! Increased bone mineral density relationship: excluded_subClassOf MONDO:0019703 {source="Orphanet:2801", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with increased bone density relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11909 {source="MONDO:mim2gene_medgen"} ! TNFRSF11B @@ -201431,7 +201744,7 @@ xref: MEDGEN:1647044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:239300"} xref: UMLS:C4551502 {source="MEDGEN:1647044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:239300", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070433", source="MONDO:Redundant", source="OMIM:239300", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 ! PIGV relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26031 {source="MONDO:mim2gene_medgen"} ! PIGV @@ -201475,7 +201788,7 @@ xref: Orphanet:419 {source="OMIM:239500", source="MONDO:equivalentTo"} xref: SCTID:61071003 {source="MONDO:equivalentTo"} xref: UMLS:C0268529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120645"} is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:419"} ! inborn disorder of proline metabolism -is_a: MONDO:0023419 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia +is_a: MONDO:0023419 {source="DOID:0080542", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia intersection_of: MONDO:0023419 ! hyperprolinemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 ! PRODH relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9453 {source="MONDO:mim2gene_medgen"} ! PRODH @@ -201517,7 +201830,7 @@ xref: Orphanet:79101 {source="OMIM:239510", source="MONDO:equivalentTo"} xref: SCTID:717181004 {source="MONDO:equivalentTo"} xref: UMLS:C2931835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419175"} is_a: MONDO:0017355 {source="MONDO:Redundant", source="Orphanet:79101"} ! inborn disorder of proline metabolism -is_a: MONDO:0023419 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia +is_a: MONDO:0023419 {source="DOID:0080543", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! hyperprolinemia intersection_of: MONDO:0023419 ! hyperprolinemia intersection_of: disease_has_basis_in_disruption_of GO:0003842 ! 1-pyrroline-5-carboxylate dehydrogenase activity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/406 ! ALDH4A1 @@ -201842,7 +202155,7 @@ xref: MEDGEN:461704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:240500 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:240500"} xref: UMLS:C3150354 {source="MEDGEN:461704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:240500", source="OMIM:240500"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:240500", source="DOID:0081145", source="OMIM:240500"} ! common variable immunodeficiency [Term] id: MONDO:0009414 @@ -201884,7 +202197,7 @@ xref: OMIM:240600 {source="Orphanet:2089", source="MONDO:equivalentTo", source=" xref: Orphanet:2089 {source="MONDO:equivalentTo", source="OMIM:240600"} xref: SCTID:237964009 {source="MONDO:equivalentTo"} xref: UMLS:C1855861 {source="MEDGEN:343430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:2089", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="MONDO:Redundant", source="OMIM:240600", source="Orphanet:2089", source="PMID:33340416"} ! disorder of glycogen metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4707 {source="MONDO:mim2gene_medgen"} ! GYS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -202105,7 +202418,7 @@ xref: Orphanet:620220 {source="MONDO:equivalentTo"} xref: Orphanet:93604 {source="OMIM:241200", source="MONDO:directSiblingOf"} xref: SCTID:700109009 {source="MONDO:equivalentTo"} xref: UMLS:C1855849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343428"} -is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="OMIM:241200"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDO:Redundant", source="OMIM:241200", source="Orphanet:620220"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 ! KCNJ1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6255 {source="MONDO:mim2gene_medgen"} ! KCNJ1 @@ -202171,7 +202484,7 @@ xref: NCIT:C133727 {source="MONDO:equivalentTo"} xref: OMIM:241410 {source="Orphanet:2323", source="MONDO:equivalentTo", source="DOID:0060348", source="Orphanet:2323/e"} xref: Orphanet:2323 {source="MONDO:equivalentTo", source="DOID:0060348", source="OMIM:241410"} xref: UMLS:C1855840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340984"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C133727"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060348", source="MONDO:Redundant", source="NCIT:C133727"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060348", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:2323"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder @@ -202539,7 +202852,7 @@ xref: OMIM:242150 {source="MONDO:equivalentTo"} xref: Orphanet:477 {source="OMIM:242150"} xref: SCTID:403780007 {source="MONDO:equivalentTo"} xref: UMLS:C1275089 {source="MEDGEN:224809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018781 {source="Orphanet:477/btnt"} ! KID syndrome +is_a: MONDO:0018781 {source="OMIM:242150", source="Orphanet:477/btnt"} ! KID syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI [Term] @@ -202864,7 +203177,7 @@ xref: OMIM:242840 {source="DOID:0060356", source="Orphanet:1493/e", source="MOND xref: Orphanet:1493 {source="DOID:0060356", source="MONDO:equivalentTo", source="OMIM:242840"} xref: SCTID:719824001 {source="MONDO:equivalentTo"} xref: UMLS:C1855772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340962"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C138174", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060356", source="MONDO:Redundant", source="NCIT:C138174", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0006025 {source="DOID:0060356", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1493"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -203079,7 +203392,7 @@ xref: Orphanet:137893 {source="OMIM:243060", source="MONDO:equivalentTo"} xref: Orphanet:399808 {source="OMIM:243060"} xref: SCTID:236806004 {source="MONDO:equivalentTo"} xref: UMLS:C0403812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98020"} -is_a: MONDO:0004983 {source="DC-OMIM:243060", source="OMIM:243060"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:243060", source="DOID:0070183", source="OMIM:243060"} ! spermatogenic failure is_a: MONDO:0018394 {source="Orphanet:137893"} ! male infertility with teratozoospermia due to single gene mutation relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11391 {source="MONDO:mim2gene_medgen"} ! AURKC @@ -203252,7 +203565,7 @@ xref: Orphanet:65682 {source="OMIM:243300"} xref: Orphanet:99960 {source="MONDO:equivalentTo", source="OMIM:243300"} xref: UMLS:C4551899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1637492"} is_a: MONDO:0015762 ! progressive familial intrahepatic cholestasis -is_a: MONDO:0019008 {source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis +is_a: MONDO:0019008 {source="DOID:0070231", source="MONDO:Redundant", source="OMIM:243300", source="Orphanet:99960"} ! benign recurrent intrahepatic cholestasis intersection_of: MONDO:0019008 ! benign recurrent intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 ! ATP8B1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3706 {source="MONDO:mim2gene_medgen"} ! ATP8B1 @@ -203289,7 +203602,7 @@ xref: MEDGEN:340943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:243310 {source="MONDO:equivalentTo"} xref: Orphanet:2995 {source="OMIM:243310"} xref: UMLS:C1855722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340943"} -is_a: MONDO:0017579 {source="DC-OMIM:243310", source="MONDO:Redundant", source="OMIM:243310"} ! Baraitser-Winter cerebrofrontofacial syndrome +is_a: MONDO:0017579 {source="DC-OMIM:243310", source="DOID:0081112", source="MONDO:Redundant", source="OMIM:243310"} ! Baraitser-Winter cerebrofrontofacial syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/132 ! ACTB @@ -203490,7 +203803,7 @@ xref: Orphanet:506307 {source="MONDO:equivalentTo", source="MONDO:preferredExter xref: UMLS:C1855705 {source="MEDGEN:340938", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:506307"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0016575 {source="DC-OMIM:616369"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DC-OMIM:616369", source="DOID:0110595"} ! primary ciliary dyskinesia is_a: MONDO:0043009 {source="MONDO:Redundant", source="Orphanet:444069"} ! hereditary lethal multiple congenital anomalies/dysmorphic syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:506307", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -203534,7 +203847,7 @@ xref: OMIM:243700 {source="Orphanet:217390", source="MONDO:equivalentTo", source xref: Orphanet:169446 {source="OMIM:243700", source="GARD:0002816"} xref: Orphanet:217390 {source="MONDO:equivalentTo", source="OMIM:243700"} xref: UMLS:C4722305 {source="MEDGEN:1648410", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018037 {source="OMIM:243700"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="DOID:0080594", source="OMIM:243700"} ! hyper-IgE syndrome intersection_of: MONDO:0018037 ! hyper-IgE syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19191 ! DOCK8 relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:217390", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency @@ -203801,7 +204114,8 @@ xref: Orphanet:2333 {source="OMIM:244460"} xref: Orphanet:93324 {source="OMIM:244460", source="MONDO:equivalentTo", source="GARD:0008367"} xref: UMLS:C1855648 {source="MEDGEN:340923", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130992"} ! syndromic disease -is_a: MONDO:0016516 {source="DC-OMIM:244460", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome +is_a: MONDO:0006025 {source="DOID:0080722"} ! autosomal recessive disease +is_a: MONDO:0016516 {source="DC-OMIM:244460", source="DOID:0080722", source="MONDO:Redundant", source="OMIM:244460", source="Orphanet:93324"} ! Kenny-Caffey syndrome intersection_of: MONDO:0016516 ! Kenny-Caffey syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11582 {source="MONDO:mim2gene_medgen"} ! TBCE @@ -203900,6 +204214,7 @@ xref: SCTID:40158001 {source="DOID:3389", source="MONDO:equivalentTo"} xref: UMLS:C0030360 {source="MEDGEN:45306", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84992"} ! syndromic disease is_a: MONDO:0002635 {source="DOID:3389"} ! periodontal disorder +is_a: MONDO:0006025 {source="DOID:3389"} ! autosomal recessive disease is_a: MONDO:0015978 {source="Orphanet:678"} ! functional neutrophil defect is_a: MONDO:0017666 {source="MONDO:0017671-obsoleted"} ! diffuse palmoplantar keratoderma is_a: MONDO:0017739 {source="Orphanet:678"} ! disorder of lysosomal-related organelles @@ -204566,7 +204881,7 @@ xref: SCTID:232059000 {source="MONDO:equivalentTo", source="DOID:1930"} xref: SCTID:232060005 {source="DOID:1930"} xref: SCTID:5619004 {source="DOID:1930", source="MONDO:directSiblingOf"} xref: UMLS:C0023138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44078"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34760", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1930", source="MONDO:Redundant", source="NCIT:C34760", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0003847 {source="DOID:1930/inferred", source="MONDO:Redundant", source="NCIT:C34760", source="Orphanet:2377/inferred"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:1930", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -204667,7 +204982,7 @@ xref: Orphanet:508 {source="OMIM:246200", source="MONDO:equivalentTo"} xref: SCTID:111307005 {source="MONDO:equivalentTo", source="DOID:0050470"} xref: SCTID:33559001 {source="DOID:0050470", source="MONDO:directSiblingOf"} xref: UMLS:C0265344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82708"} -is_a: MONDO:0002254 {source="NCIT:C84676"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050470", source="NCIT:C84676"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050470", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:508"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:508", source="Orphanet:508/inferred"} ! disorder of development or morphogenesis @@ -204957,7 +205272,8 @@ xref: OMIM:246650 {source="MONDO:equivalentTo", source="Orphanet:535453"} xref: Orphanet:535453 {source="OMIM:246650", source="MONDO:equivalentTo"} xref: UMLS:C1855498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340886"} is_a: MONDO:0003847 {source="MESH:C535904/inferred"} ! hereditary disease -is_a: MONDO:0018637 {source="Orphanet:535453"} ! familial chylomicronemia syndrome +is_a: MONDO:0006025 {source="DOID:0111422"} ! autosomal recessive disease +is_a: MONDO:0018637 {source="DOID:0111422", source="Orphanet:535453"} ! familial chylomicronemia syndrome relationship: has_characteristic HP:0000007 {source="Orphanet:535453"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14154 {source="MONDO:mim2gene_medgen", source="Orphanet:535453"} ! LMF1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined" xsd:anyURI {source="GARD:0010244"} @@ -205065,7 +205381,7 @@ xref: Orphanet:530 {source="OMIM:247100", source="MONDO:equivalentTo"} xref: SCTID:238950006 {source="DOID:14498"} xref: SCTID:38692000 {source="MONDO:equivalentTo", source="DOID:14498"} xref: UMLS:C0023795 {source="MEDGEN:6112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002525 ! inherited lipid metabolism disorder +is_a: MONDO:0002525 {source="DOID:14498"} ! inherited lipid metabolism disorder is_a: MONDO:0005093 {source="MONDO:0018798-obsoleted"} ! skin disorder is_a: MONDO:0021154 {source="Orphanet:530"} ! dermis disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015123"} ! rare @@ -205646,7 +205962,7 @@ xref: Orphanet:2457 {source="OMIM:248370"} xref: Orphanet:90153 {source="MONDO:equivalentTo", source="OMIM:248370"} xref: SCTID:109419009 {source="MONDO:equivalentTo"} xref: UMLS:C5399785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1757618"} -is_a: MONDO:0016584 {source="DC-OMIM:248370", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia +is_a: MONDO:0016584 {source="DC-OMIM:248370", source="DOID:0081128", source="OMIM:248370", source="Orphanet:90153"} ! mandibuloacral dysplasia is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA @@ -205675,7 +205991,7 @@ xref: MESH:C535707 {source="MONDO:equivalentTo"} xref: OMIM:248390 {source="MONDO:equivalentTo"} xref: Orphanet:861 {source="OMIM:248390"} xref: UMLS:C1855433 {source="MEDGEN:340868", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002457 {source="MONDO:Redundant", source="OMIM:248390"} ! Treacher-Collins syndrome +is_a: MONDO:0002457 {source="DOID:0080791", source="MONDO:Redundant", source="OMIM:248390"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 ! POLR1C relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20194 {source="MONDO:mim2gene_medgen"} ! POLR1C @@ -205768,7 +206084,7 @@ xref: UMLS:C0024748 {source="MEDGEN:7467", source="MONDO:equivalentTo", source=" is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:61"} ! oligosaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:61", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_disruption_of GO:0004559 ! alpha-mannosidase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: disease_has_feature MONDO:0005066 ! metabolic disease @@ -205815,7 +206131,7 @@ xref: UMLS:C4048196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:118"} ! oligosaccharidosis is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:118", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6831 {source="MONDO:mim2gene_medgen"} ! MANBA @@ -206002,7 +206318,7 @@ xref: OMIM:248800 {source="DOID:0080195", source="Orphanet:559", source="MONDO:e xref: Orphanet:559 {source="MONDO:equivalentTo", source="OMIM:248800"} xref: SCTID:80734006 {source="MONDO:equivalentTo"} xref: UMLS:C0024814 {source="MEDGEN:6222", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080195", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005071 ! nervous system disorder is_a: MONDO:0006025 {source="DOID:0080195", source="MONDO:indirect"} ! autosomal recessive disease is_a: MONDO:0020046 {source="Orphanet:559"} ! autosomal recessive degenerative and progressive cerebellar ataxia @@ -206221,6 +206537,7 @@ xref: Orphanet:498277 {source="DOID:0090117"} xref: SCTID:237617006 {source="MONDO:equivalentTo"} xref: UMLS:C0342287 {source="MONDO:equivalentTo", source="MEDGEN:83338", source="MONDO:MEDGEN"} is_a: MONDO:0000152 {source="DC-OMIM:249270", source="OMIM:249270"} ! thiamine-responsive dysfunction syndrome +is_a: MONDO:0006025 {source="DOID:0090117"} ! autosomal recessive disease is_a: MONDO:0020112 {source="Orphanet:49827"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia relationship: disease_responds_to CHEBI:26948 ! vitamin B1 relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="MONDO:Redundant", source="Orphanet:49827", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus @@ -206396,7 +206713,7 @@ xref: MEDGEN:344468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565406 {source="MONDO:equivalentTo"} xref: OMIM:249500 {source="MONDO:equivalentTo"} xref: UMLS:C1855304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344468"} -is_a: MONDO:0019502 {source="DC-OMIM:249500", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:249500", source="DOID:0081177", source="MONDO:Redundant", source="OMIM:249500"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 ! PRSS12 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9477 {source="MONDO:mim2gene_medgen"} ! PRSS12 @@ -206766,7 +207083,7 @@ xref: MESH:C535798 {source="Orphanet:93317/e", source="MONDO:equivalentTo", sour xref: OMIM:250220 {source="Orphanet:93317/e", source="MONDO:equivalentTo", source="Orphanet:93317"} xref: Orphanet:93317 {source="MONDO:equivalentTo", source="OMIM:250220"} xref: UMLS:C1855229 {source="MEDGEN:340816", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="DC-OMIM:250220"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:250220", source="DOID:0112298", source="OMIM:250220"} ! spondylometaphyseal dysplasia is_a: MONDO:0019694 {source="Orphanet:93317"} ! spondylodysplastic dysplasia is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia @@ -206839,7 +207156,7 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61245"} ! syndromic is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0006025 {source="DOID:14773", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015708 {source="Orphanet:175"} ! immuno-osseous dysplasia -is_a: MONDO:0019287 {source="Orphanet:175"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:14773", source="Orphanet:175"} ! ectodermal dysplasia syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:250250", source="Orphanet:175"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -207318,7 +207635,7 @@ xref: Orphanet:27 {source="DOID:0060740", source="MONDO:equivalentTo", source="O xref: Orphanet:289916 {source="OMIM:251000"} xref: Orphanet:79312 {source="OMIM:251000"} xref: UMLS:C1855114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344424"} -is_a: MONDO:0002012 {source="Orphanet:27"} ! methylmalonic acidemia +is_a: MONDO:0002012 {source="DOID:0060740", source="Orphanet:27"} ! methylmalonic acidemia is_a: MONDO:0019215 ! classic organic aciduria relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7526 {source="MONDO:mim2gene_medgen"} ! MMUT @@ -207496,7 +207813,7 @@ xref: OMIM:251200 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:251200"} xref: Orphanet:52183 {source="MONDO:equivalentObsolete", source="OMIM:251200"} xref: UMLS:C1855081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344415"} -is_a: MONDO:0016660 {source="DC-OMIM:251200", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:251200", source="DOID:0070285", source="MONDO:Redundant", source="OMIM:251200"} ! autosomal recessive primary microcephaly is_a: MONDO:0100200 {source="https://clinicalgenome.org/affiliation/40006/"} ! microcephaly with intellectual disability intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6954 ! MCPH1 @@ -207923,7 +208240,7 @@ xref: MESH:C565377 {source="MONDO:equivalentTo"} xref: OMIM:251600 {source="DOID:0060840", source="MONDO:equivalentTo"} xref: Orphanet:2542 {source="MONDO:relatedTo", source="DOID:0060840", source="OMIM:251600"} xref: UMLS:C1855052 {source="MEDGEN:381546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000062 {source="DC-OMIM:251600", source="OMIM:251600"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:251600", source="DOID:0060840", source="OMIM:251600"} ! isolated microphthalmia [Term] id: MONDO:0009632 @@ -208150,7 +208467,7 @@ xref: OMIM:252100 {source="Orphanet:2751", source="MONDO:equivalentTo", source=" xref: Orphanet:2751 {source="MONDO:equivalentTo", source="OMIM:252100"} xref: SCTID:1779005 {source="MONDO:equivalentTo"} xref: UMLS:C0026363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10077"} -is_a: MONDO:0015375 {source="Orphanet:2751"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0060959", source="OMIM:252100", source="Orphanet:2751"} ! orofaciodigital syndrome is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2751", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -208357,7 +208674,7 @@ xref: UMLS:C2673377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019248 {source="DC-OMIM:252500", source="MESH:C538602", source="NCIT:C61270", source="Orphanet:576"} ! mucolipidosis is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:576", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29670 {source="MONDO:mim2gene_medgen"} ! GNPTAB @@ -208511,7 +208828,7 @@ xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"} xref: SCTID:41572006 {source="MONDO:equivalentTo"} xref: UMLS:C0086647 {source="MEDGEN:39264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002561 {source="NCIT:C84897/inferred", source="Orphanet:79269/inferred", source="PMID:21723623"} ! lysosomal storage disease -is_a: MONDO:0018937 {source="NCIT:C84897", source="Orphanet:79269"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="DOID:0111395", source="NCIT:C84897", source="Orphanet:79269"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_disruption_of GO:0004561 ! alpha-N-acetylglucosaminidase activity relationship: disease_has_basis_in_disruption_of GO:0016250 ! N-sulfoglucosamine sulfohydrolase activity @@ -208560,7 +208877,7 @@ xref: Orphanet:581 {source="OMIM:252920"} xref: Orphanet:79270 {source="MONDO:equivalentTo", source="OMIM:252920"} xref: SCTID:59990008 {source="MONDO:equivalentTo"} xref: UMLS:C0086648 {source="MEDGEN:88601", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018937 {source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="DOID:0111394", source="NCIT:C84898", source="Orphanet:79270"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7632 {source="MONDO:mim2gene_medgen"} ! NAGLU property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -208608,7 +208925,7 @@ xref: Orphanet:581 {source="OMIM:252930"} xref: Orphanet:79271 {source="MONDO:equivalentTo", source="OMIM:252930"} xref: SCTID:75238000 {source="MONDO:equivalentTo"} xref: UMLS:C0086649 {source="MEDGEN:39477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018937 {source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="DOID:0111393", source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26527 {source="MONDO:mim2gene_medgen"} ! HGSNAT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -208656,7 +208973,7 @@ xref: Orphanet:581 {source="OMIM:252940"} xref: Orphanet:79272 {source="MONDO:equivalentTo", source="OMIM:252940"} xref: SCTID:15892005 {source="MONDO:equivalentTo"} xref: UMLS:C0086650 {source="MEDGEN:88602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018937 {source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="DOID:0111402", source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4422 {source="MONDO:mim2gene_medgen"} ! GNS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -208702,7 +209019,7 @@ xref: Orphanet:309297 {source="MONDO:equivalentTo", source="OMIM:253000"} xref: Orphanet:582 {source="OMIM:253000"} xref: SCTID:7259005 {source="MONDO:equivalentTo"} xref: UMLS:C0086651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43375"} -is_a: MONDO:0018938 {source="NCIT:C84901", source="Orphanet:309297"} ! mucopolysaccharidosis type 4 +is_a: MONDO:0018938 {source="DOID:0111391", source="NCIT:C84901", source="Orphanet:309297"} ! mucopolysaccharidosis type 4 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0033844 ! galactose-6-sulfurylase activity @@ -208745,7 +209062,7 @@ xref: Orphanet:309310 {source="MONDO:equivalentTo", source="OMIM:253010"} xref: Orphanet:582 {source="OMIM:253010"} xref: SCTID:238044004 {source="MONDO:equivalentTo"} xref: UMLS:C0086652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43376"} -is_a: MONDO:0018938 {source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4 +is_a: MONDO:0018938 {source="DOID:0111392", source="NCIT:C84902", source="Orphanet:309310"} ! mucopolysaccharidosis type 4 is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004565 ! beta-galactosidase activity @@ -208809,7 +209126,7 @@ is_a: MONDO:0002254 {source="NCIT:C61264"} ! syndromic disease is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019249 {source="DC-OMIM:253200", source="DOID:12800", source="MESH:D009087", source="MONDO:Redundant", source="NCIT:C61264", source="OMIM:253200", source="Orphanet:583"} ! mucopolysaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:583", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0003943 ! N-acetylgalactosamine-4-sulfatase activity relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome @@ -208870,7 +209187,7 @@ xref: UMLS:C0085132 {source="MEDGEN:43108", source="MONDO:equivalentTo", source= is_a: MONDO:0002561 {source="DOID:12803/inferred", source="MESH:D016538/inferred", source="NCIT:C84903/inferred", source="Orphanet:584/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Redundant", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584"} ! mucopolysaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:584", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004566 ! beta-glucuronidase activity relationship: disease_has_basis_in_disruption_of GO:0004566 {source="PMID:21723623"} ! beta-glucuronidase activity @@ -208923,7 +209240,7 @@ xref: OMIM:253250 {source="Orphanet:2576", source="DOID:0050436", source="MONDO: xref: Orphanet:2576 {source="OMIM:253250", source="MONDO:equivalentTo"} xref: SCTID:81604003 {source="DOID:0050436", source="MONDO:equivalentTo"} xref: UMLS:C0524582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:99347"} -is_a: MONDO:0002254 {source="NCIT:C84906"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050436", source="NCIT:C84906"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050436", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0021147 {source="Orphanet:2576", source="Orphanet:2576/inferred"} ! disorder of development or morphogenesis is_a: MONDO:0100306 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! disorder of defective peroxisome oxidative status @@ -209561,7 +209878,7 @@ xref: MEDGEN:98046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:254090 {source="Orphanet:75840", source="MONDO:equivalentTo"} xref: UMLS:C0410179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98046"} -is_a: MONDO:0000355 {source="DC-OMIM:254090", source="OMIM:254090"} ! Ullrich congenital muscular dystrophy +is_a: MONDO:0000355 {source="DC-OMIM:254090", source="DOID:0060946", source="OMIM:254090"} ! Ullrich congenital muscular dystrophy is_a: MONDO:0100225 {source="PMID:21691338", source="https://clinicalgenome.org/affiliation/40031/"} ! collagen 6-related myopathy [Term] @@ -209656,7 +209973,7 @@ xref: NCIT:C118846 {source="MONDO:equivalentTo"} xref: OMIMPS:254130 {source="DOID:0070198", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:45448 {source="DOID:0070198", source="OMIM:254130", source="MONDO:equivalentTo"} xref: UMLS:C5553104 {source="MEDGEN:1790866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018949 {source="DC-OMIM:254130", source="MONDO:Redundant", source="OMIM:254130", source="Orphanet:45448/inferred"} ! distal myopathy +is_a: MONDO:0018949 {source="DC-OMIM:254130", source="DOID:0070198", source="MONDO:Redundant", source="OMIM:254130", source="Orphanet:45448/inferred"} ! distal myopathy is_a: MONDO:0020121 {source="MESH:C537480/inferred", source="MONDO:Redundant", source="NCIT:C118846"} ! muscular dystrophy relationship: excluded_subClassOf MONDO:0016145 {source="Orphanet:45448", source="https://orcid.org/0000-0001-5208-3432"} ! qualitative or quantitative defects of dysferlin relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254130"} ! inherited @@ -210148,7 +210465,7 @@ xref: SCTID:230425004 {source="MONDO:equivalentTo", source="DOID:3534"} xref: UMLS:C0751783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155631"} is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder -is_a: MONDO:0020074 {source="OMIMPS:254780"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DOID:3534", source="OMIMPS:254780", source="Orphanet:501"} ! progressive myoclonus epilepsy is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy relationship: has_characteristic MONDO:0021152 {source="OMIMPS:254780"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -210234,7 +210551,7 @@ xref: OMIM:254900 {source="MONDO:equivalentTo", source="Orphanet:163696", source xref: Orphanet:163696 {source="MONDO:equivalentTo", source="OMIM:254900"} xref: SCTID:764453009 {source="MONDO:equivalentTo"} xref: UMLS:C0751779 {source="MEDGEN:155629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020074 {source="DC-OMIM:254900", source="OMIM:254900"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:254900", source="DOID:0111444", source="OMIM:254900"} ! progressive myoclonus epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1665 {source="MONDO:mim2gene_medgen"} ! SCARB2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -210467,7 +210784,7 @@ xref: MESH:C562934 {source="MONDO:equivalentTo"} xref: OMIM:255200 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="OMIM:255200"} xref: UMLS:C0410204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98049"} -is_a: MONDO:0015705 {source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy +is_a: MONDO:0015705 {source="DOID:0111220", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:255200"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1052 ! BIN1 @@ -210860,7 +211177,7 @@ xref: Orphanet:168572 {source="MONDO:equivalentTo", source="DOID:0060346", sourc xref: SCTID:723439002 {source="MONDO:equivalentTo"} xref: UMLS:C1850625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340586"} is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder -is_a: MONDO:0019952 {source="OMIM:255310", source="Orphanet:168572"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0060346", source="OMIM:255310", source="OMIM:255995", source="Orphanet:168572"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28423 {source="MONDO:mim2gene_medgen"} ! STAC3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1377" xsd:anyURI @@ -211034,7 +211351,7 @@ xref: UMLS:C1850568 {source="MEDGEN:376827", source="MONDO:equivalentTo", source is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0006025 {source="DOID:0050553", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019751 {source="https://orcid.org/0000-0001-5208-3432"} ! autoinflammatory syndrome -is_a: MONDO:0957408 {source="PMID:37161741"} ! type 1 interferonopathy of childhood +is_a: MONDO:0957408 {source="Orphanet:324977", source="PMID:37161741"} ! type 1 interferonopathy of childhood relationship: disease_has_feature HP:0001387 ! Joint stiffness relationship: disease_has_feature HP:0009125 ! Lipodystrophy relationship: disease_has_feature HP:0009473 ! Joint contracture of the hand @@ -211220,7 +211537,7 @@ xref: OMIM:256300 {source="Orphanet:839/e", source="MONDO:equivalentTo", source= xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"} xref: SCTID:197601003 {source="MONDO:equivalentTo"} xref: UMLS:C0403399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98011"} -is_a: MONDO:0002350 {source="OMIM:256300"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080390", source="OMIM:256300"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="NCIT:C122795", source="OMIM:256300"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7908 ! NPHS1 @@ -211251,7 +211568,7 @@ xref: MEDGEN:462918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C121198 {source="MONDO:equivalentTo"} xref: OMIM:256370 {source="MONDO:equivalentTo"} xref: UMLS:C3151568 {source="MEDGEN:462918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002350 {source="NCIT:C121198", source="OMIM:256370"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080383", source="NCIT:C121198", source="OMIM:256370"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="MONDO:Redundant", source="NCIT:C121198/inferred", source="OMIM:256370"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12796 ! WT1 @@ -211285,7 +211602,7 @@ xref: Orphanet:276598 {source="OMIM:256450"} xref: Orphanet:79643 {source="OMIM:256450"} xref: SCTID:360339005 {source="MONDO:equivalentTo"} xref: UMLS:C2931832 {source="MEDGEN:419505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005803 {source="DC-OMIM:256450", source="MONDO:Redundant"} ! hyperinsulinemic hypoglycemia +is_a: MONDO:0005803 {source="DC-OMIM:256450", source="DOID:0070219", source="MONDO:Redundant", source="OMIM:256450"} ! hyperinsulinemic hypoglycemia intersection_of: MONDO:0005803 ! hyperinsulinemic hypoglycemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 ! ABCC8 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/59 {source="MONDO:mim2gene_medgen"} ! ABCC8 @@ -211369,7 +211686,7 @@ xref: MESH:C536405 {source="Orphanet:2671"} xref: OMIM:256520 {source="Orphanet:2671", source="DOID:0080076", source="MONDO:equivalentTo"} xref: Orphanet:583607 {source="MONDO:equivalentTo"} xref: UMLS:C4551478 {source="MEDGEN:1633287", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000179 {source="DC-OMIM:256520", source="MONDO:Redundant", source="OMIM:256520"} ! Neu-Laxova syndrome +is_a: MONDO:0000179 {source="DC-OMIM:256520", source="MONDO:Redundant", source="OMIM:256520", source="Orphanet:583607"} ! Neu-Laxova syndrome intersection_of: MONDO:0000179 ! Neu-Laxova syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 ! PHGDH relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8923 {source="MONDO:mim2gene_medgen"} ! PHGDH @@ -211414,7 +211731,7 @@ is_a: MONDO:0002561 {source="MESH:C536411", source="MONDO:Redundant", source="NC is_a: MONDO:0005328 ! eye disorder is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:351", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9251 {source="MONDO:mim2gene_medgen"} ! CTSA @@ -211485,7 +211802,7 @@ xref: UMLS:C4282398 {source="MEDGEN:924303", source="MONDO:equivalentTo", source is_a: MONDO:0015327 {source="Orphanet:87876", source="Orphanet:87876/inferred"} ! developmental anomaly of metabolic origin is_a: MONDO:0017734 {source="MONDO:Redundant", source="Orphanet:87876"} ! sialidosis is_a: MONDO:0031422 {source="OMIM:256550"} ! familial mucolipidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:87876", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0017734 ! sialidosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7758 ! NEU1 relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome @@ -211650,7 +211967,7 @@ xref: Orphanet:79263 {source="MONDO:OtherRelationship", source="OMIM:214200", so xref: Orphanet:79264 {source="MONDO:OtherRelationship", source="OMIM:256730"} xref: SCTID:720830009 {source="MONDO:equivalentTo"} xref: UMLS:C1850451 {source="MEDGEN:340540", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NCIT:C85861", source="OMIM:256730", source="Orphanet:228329/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110721", source="MONDO:Redundant", source="NCIT:C85861", source="OMIM:256730", source="Orphanet:228329", source="Orphanet:228329/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9325 ! PPT1 relationship: excluded_subClassOf MONDO:0015674 {source="Orphanet:168491/btnt", source="Orphanet:228329", source="https://orcid.org/0000-0001-5208-3432"} ! late infantile neuronal ceroid lipofuscinosis @@ -211697,7 +212014,7 @@ xref: Orphanet:168491 {source="OMIM:256731"} xref: Orphanet:228360 {source="MONDO:equivalentTo", source="OMIM:256731", source="DOID:0110728"} xref: UMLS:C1850442 {source="MEDGEN:376792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015674 {source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 ! CLN5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2076 {source="MONDO:mim2gene_medgen"} ! CLN5 @@ -212062,7 +212379,7 @@ xref: DOID:0080141 {source="MONDO:equivalentTo"} xref: MEDGEN:338026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:257300 {source="DOID:0080141", source="MONDO:equivalentTo", source="Orphanet:1052"} xref: UMLS:C1850343 {source="MEDGEN:338026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000141 {source="DC-OMIM:257300", source="MONDO:Redundant", source="OMIM:257300"} ! mosaic variegated aneuploidy syndrome +is_a: MONDO:0000141 {source="DC-OMIM:257300", source="DOID:0080141", source="MONDO:Redundant", source="OMIM:257300"} ! mosaic variegated aneuploidy syndrome intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1149 ! BUB1B relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic @@ -212133,7 +212450,7 @@ xref: SCTID:399882002 {source="MONDO:equivalentTo", source="DOID:3081"} xref: SCTID:40225001 {source="DOID:3081", source="EFO:1000888"} xref: SCTID:423984004 {source="DOID:3081"} xref: UMLS:C0206620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:60195"} -is_a: MONDO:0002013 {source="NCIT:C3724"} ! lymphangioma +is_a: MONDO:0002013 {source="DOID:3081", source="NCIT:C3724"} ! lymphangioma [Term] id: MONDO:0009762 @@ -212146,7 +212463,7 @@ xref: MESH:C564938 {source="MONDO:equivalentTo"} xref: OMIM:257400 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:257400"} xref: UMLS:C3151571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462921"} -is_a: MONDO:0005712 {source="DC-OMIM:257400", source="OMIM:257400"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:257400", source="DOID:0111797", source="OMIM:257400"} ! congenital nystagmus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -212197,7 +212514,7 @@ xref: OMIM:257550 {source="Orphanet:1125", source="MONDO:equivalentTo", source=" xref: Orphanet:1125 {source="OMIM:257550", source="MONDO:equivalentTo", source="GARD:0000016"} xref: SCTID:405809000 {source="MONDO:equivalentTo"} xref: UMLS:C0543874 {source="MONDO:equivalentTo", source="MEDGEN:154254", source="MONDO:MEDGEN"} -is_a: MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder +is_a: MONDO:0005328 {source="DOID:0080849", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -212484,7 +212801,7 @@ xref: MEDGEN:1645330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:258100 {source="DOID:0110712", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="OMIM:258100"} xref: UMLS:C4551824 {source="MEDGEN:1645330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016293 {source="DC-OMIM:258100", source="OMIM:258100"} ! congenital stationary night blindness +is_a: MONDO:0016293 {source="DC-OMIM:258100", source="DOID:0110712", source="OMIM:258100"} ! congenital stationary night blindness intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10521 ! SAG relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110712", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary night blindness @@ -212508,7 +212825,7 @@ xref: OMIM:258150 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="MONDO:relatedTo", source="OMIM:258150"} xref: SCTID:236803007 {source="MONDO:equivalentTo"} xref: UMLS:C0403810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140793"} -is_a: MONDO:0004983 {source="DC-OMIM:258150", source="OMIM:258150"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:258150", source="DOID:0070188", source="OMIM:258150"} ! spermatogenic failure [Term] id: MONDO:0009777 @@ -212583,7 +212900,8 @@ xref: Orphanet:2733 {source="OMIM:258315"} xref: Orphanet:93329 {source="MONDO:equivalentTo", source="OMIM:258315"} xref: SCTID:725166005 {source="MONDO:equivalentTo"} xref: UMLS:C1850318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340513"} -is_a: MONDO:0017136 {source="DC-OMIM:258315", source="MONDO:Redundant", source="Orphanet:93329"} ! omodysplasia +is_a: MONDO:0006025 {source="DOID:0080844"} ! autosomal recessive disease +is_a: MONDO:0017136 {source="DC-OMIM:258315", source="DOID:0080844", source="MONDO:Redundant", source="OMIM:258315", source="Orphanet:93329"} ! omodysplasia intersection_of: MONDO:0017136 ! omodysplasia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4454 {source="MONDO:mim2gene_medgen"} ! GPC6 @@ -212886,7 +213204,7 @@ xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="MONDO: xref: Orphanet:2752 {source="DOID:0060373", source="MONDO:equivalentObsolete", source="OMIM:258850"} xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"} xref: UMLS:C0406726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96069"} -is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="OMIM:258850", source="Orphanet:2752"} ! orofaciodigital syndrome relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2752", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -212928,7 +213246,7 @@ xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="MONDO: xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"} xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"} xref: UMLS:C0406727 {source="MEDGEN:98358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="OMIM:258860", source="Orphanet:2753"} ! orofaciodigital syndrome is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation is_a: MONDO:0019691 {source="Orphanet:2753", source="PMID:31633310"} ! short rib dysplasia relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:2753", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -212972,7 +213290,7 @@ xref: OMIM:258865 {source="Orphanet:141007/e", source="MONDO:equivalentTo", sour xref: Orphanet:141007 {source="MONDO:equivalentTo", source="OMIM:258865", source="DOID:0060382"} xref: SCTID:718680001 {source="MONDO:equivalentTo"} xref: UMLS:C0796102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162908"} -is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="Orphanet:141007"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:258865", source="DOID:0060382", source="MESH:C557818", source="OMIM:258865", source="Orphanet:141007"} ! orofaciodigital syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9" xsd:anyURI {source="GARD:0010520"} [Term] @@ -213303,7 +213621,7 @@ xref: MEDGEN:342431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:259450 {source="MONDO:equivalentTo"} xref: Orphanet:2771 {source="OMIM:259450"} xref: UMLS:C1850168 {source="MONDO:equivalentTo", source="MEDGEN:342431", source="MONDO:MEDGEN"} -is_a: MONDO:0017195 {source="DC-OMIM:259450", source="MONDO:Redundant"} ! Bruck syndrome +is_a: MONDO:0017195 {source="DC-OMIM:259450", source="MONDO:Redundant", source="OMIM:259450"} ! Bruck syndrome intersection_of: MONDO:0017195 ! Bruck syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18169 ! FKBP10 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -213540,7 +213858,7 @@ xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:259700"} xref: UMLS:C1850127 {source="MEDGEN:376708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017198 {source="DOID:0110942", source="MONDO:0009815/inferred", source="MONDO:Redundant", source="OMIM:259700", source="PMID:31633310"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:259700", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11647 ! TCIRG1 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -213578,7 +213896,7 @@ xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:259710"} xref: UMLS:C1850126 {source="MONDO:equivalentTo", source="MEDGEN:342420", source="MONDO:MEDGEN"} is_a: MONDO:0017198 {source="DOID:0110943", source="MONDO:Redundant", source="OMIM:259710", source="PMID:31633310"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:259710", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11926 ! TNFSF11 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -213613,6 +213931,7 @@ xref: Orphanet:85179 {source="OMIM:259720"} xref: UMLS:C1968603 {source="MEDGEN:409627", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010866 ! infantile osteopetrosis with neuroaxonal dysplasia is_a: MONDO:0017198 {source="DOID:0110939", source="MONDO:Redundant", source="OMIM:259720", source="PMID:31633310"} ! osteopetrosis +is_a: MONDO:0019026 {source="OMIM:259720"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21652 ! OSTM1 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -213661,6 +213980,7 @@ xref: Orphanet:2785 {source="OMIM:259730", source="MONDO:equivalentTo"} xref: SCTID:254122007 {source="MONDO:equivalentTo"} xref: UMLS:C0345407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91042"} is_a: MONDO:0017198 {source="DC-OMIM:259730", source="DOID:0110941", source="MONDO:Redundant", source="OMIM:259730", source="Orphanet:2785", source="PMID:31633310"} ! osteopetrosis +is_a: MONDO:0019026 {source="OMIM:259730"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1373 ! CA2 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -213703,7 +214023,7 @@ xref: NCIT:C130998 {source="MONDO:equivalentTo"} xref: OMIM:259770 {source="MONDO:equivalentTo", source="Orphanet:2788", source="Orphanet:2788/e", source="DOID:0060849"} xref: Orphanet:2788 {source="OMIM:259770", source="MONDO:equivalentTo", source="DOID:0060849"} xref: UMLS:C0432252 {source="MONDO:equivalentTo", source="MEDGEN:98480", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130998"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060849", source="MONDO:Redundant", source="NCIT:C130998"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060849", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0020247 {source="Orphanet:2788"} ! congenital vitreoretinal dysplasia is_a: MONDO:0700228 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! LRP5-related exudative vitreoretinopathy @@ -213821,7 +214141,7 @@ xref: Orphanet:416 {source="OMIM:259900"} xref: Orphanet:93598 {source="MONDO:equivalentTo", source="OMIM:259900"} xref: SCTID:65520001 {source="MONDO:equivalentTo"} xref: UMLS:C0268164 {source="MEDGEN:75658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002474 {source="DC-OMIM:259900", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598"} ! primary hyperoxaluria +is_a: MONDO:0002474 {source="DC-OMIM:259900", source="DOID:0111670", source="MESH:C536414", source="MONDO:Redundant", source="NCIT:C123212", source="OMIM:259900", source="Orphanet:93598"} ! primary hyperoxaluria is_a: MONDO:0100278 {source="PMID:16756494", source="https://www.clinicalgenome.org/affiliation/40049/"} ! alanine glyoxylate aminotransferase deficiency intersection_of: MONDO:0002474 ! primary hyperoxaluria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/341 ! AGXT @@ -213866,7 +214186,7 @@ xref: Orphanet:416 {source="OMIM:260000"} xref: Orphanet:93599 {source="MONDO:equivalentTo", source="OMIM:260000"} xref: SCTID:40951006 {source="MONDO:equivalentTo"} xref: UMLS:C0268165 {source="MEDGEN:120616", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002474 {source="DC-OMIM:260000", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599"} ! primary hyperoxaluria +is_a: MONDO:0002474 {source="DC-OMIM:260000", source="DOID:0111671", source="MESH:C536415", source="MONDO:Redundant", source="NCIT:C123213", source="OMIM:260000", source="Orphanet:93599"} ! primary hyperoxaluria intersection_of: MONDO:0002474 ! primary hyperoxaluria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 ! GRHPR relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4570 {source="MONDO:mim2gene_medgen"} ! GRHPR @@ -214115,7 +214435,7 @@ xref: OMIMPS:260400 {source="MONDO:equivalentTo"} xref: Orphanet:811 {source="MONDO:equivalentTo", source="OMIM:260400"} xref: SCTID:89454001 {source="MONDO:equivalentTo"} xref: UMLS:C0272170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124418"} -is_a: MONDO:0002254 {source="https://github.com/monarch-initiative/mondo/issues/859"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060479", source="https://github.com/monarch-initiative/mondo/issues/859"} ! syndromic disease is_a: MONDO:0006025 {source="Wikipedia:Shwachman%E2%80%93Diamond_syndrome#Genetics"} ! autosomal recessive disease relationship: excluded_subClassOf MONDO:0000841 {source="DOID:0080023", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete metaphyseal dysplasia relationship: excluded_subClassOf MONDO:0001713 {source="Orphanet:811", source="https://orcid.org/0000-0001-5208-3432"} ! inherited aplastic anemia @@ -215068,7 +215388,7 @@ xref: OMIM:261670 {source="Orphanet:97234", source="MONDO:equivalentTo", source= xref: Orphanet:97234 {source="MONDO:equivalentTo", source="OMIM:261670"} xref: SCTID:61772003 {source="MONDO:equivalentTo"} xref: UMLS:C0268149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120613"} -is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="Orphanet:97234"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="MONDO:Redundant", source="NCIT:C131647", source="OMIM:261670", source="Orphanet:97234"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8889 ! PGAM2 @@ -215132,7 +215452,7 @@ xref: MESH:C564888 {source="MONDO:equivalentTo"} xref: OMIM:261740 {source="Orphanet:439854/e", source="MONDO:equivalentTo", source="DOID:0090101", source="Orphanet:439854"} xref: Orphanet:439854 {source="MONDO:equivalentTo", source="DOID:0090101"} xref: UMLS:C1849813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337919"} -is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="Orphanet:439854", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Redundant", source="OMIM:261740", source="Orphanet:439854", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2 @@ -215180,7 +215500,7 @@ xref: NANDO:2201165 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:261750 {source="DOID:0111041", source="MONDO:equivalentTo", source="Orphanet:79240", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:79240/e"} xref: Orphanet:79240 {source="DOID:0111041", source="MONDO:equivalentTo", source="OMIM:261750"} xref: UMLS:C0543514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107772"} -is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="OMIM:261750", source="PMID:33340416"} ! disorder of glycogen metabolism is_a: MONDO:0005066 {source="Orphanet:79240"} ! metabolic disease intersection_of: MONDO:0002412 ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8927 ! PHKB @@ -215461,7 +215781,7 @@ xref: Orphanet:231662 {source="DOID:0060873", source="MONDO:equivalentTo", sourc xref: Orphanet:631 {source="GARD:0007399", source="OMIM:262400"} xref: SCTID:237837007 {source="MONDO:equivalentTo"} xref: UMLS:C0342573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90986"} -is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000050 {source="DC-OMIM:262400", source="DOID:0060873", source="OMIM:262400", source="Orphanet:231662"} ! isolated congenital growth hormone deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4261 {source="MONDO:mim2gene_medgen"} ! GH1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a" xsd:anyURI {source="GARD:0007399"} @@ -215799,7 +216119,7 @@ xref: SCTID:28770003 {source="MONDO:equivalentTo"} xref: UMLS:C0085548 {source="MEDGEN:39076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006025 {source="DOID:0110861", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0019741 {source="Orphanet:731"} ! familial cystic renal disease -is_a: MONDO:0020642 {source="NCIT:C84579"} ! polycystic kidney disease +is_a: MONDO:0020642 {source="DOID:0110861", source="NCIT:C84579"} ! polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic HP:0000007 {source="Orphanet:731"} ! Autosomal recessive inheritance @@ -216194,7 +216514,7 @@ xref: OMIM:263750 {source="Orphanet:246", source="MONDO:equivalentTo", source="O xref: Orphanet:246 {source="MONDO:equivalentTo", source="OMIM:263750"} xref: SCTID:66038001 {source="MONDO:equivalentTo"} xref: UMLS:C0265257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120522"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111259", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:246"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0018237 {source="Orphanet:246"} ! acrofacial dysostosis relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:246", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -216384,7 +216704,7 @@ is_a: MONDO:0015159 {source="Orphanet:3455"} ! multiple congenital anomalies/dys is_a: MONDO:0015333 {source="DC-OMIM:264090", source="Orphanet:3455"} ! progeroid syndrome is_a: MONDO:0019303 {source="Orphanet:3455"} ! premature aging syndrome is_a: MONDO:0020087 {source="Orphanet:3455"} ! hereditary lipodystrophy -is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria +is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:264090"} ! progeria is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3455", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -217457,7 +217777,7 @@ xref: Orphanet:289846 {source="OMIM:266130", source="MONDO:equivalentTo"} xref: Orphanet:32 {source="OMIM:266130"} xref: SCTID:39112005 {source="MONDO:equivalentTo"} xref: UMLS:C0398746 {source="MEDGEN:97988", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017909 {source="Orphanet:289846"} ! inherited glutathione synthetase deficiency +is_a: MONDO:0017909 {source="DOID:0081034", source="Orphanet:289846"} ! inherited glutathione synthetase deficiency is_a: MONDO:0040566 {source="PMID:33340416"} ! inherited glutathione metabolism disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4624 {source="MONDO:mim2gene_medgen"} ! GSS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -217665,7 +217985,7 @@ xref: SCTID:234583001 {source="MONDO:equivalentTo"} xref: UMLS:C0398739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96022"} is_a: MONDO:0005501 {source="DC-OMIM:266265", source="DOID:0070255", source="OMIM:266265"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 ! congenital disorder of glycosylation -is_a: MONDO:0017570 {source="NCIT:C4690", source="Orphanet:99843"} ! leukocyte adhesion deficiency +is_a: MONDO:0017570 {source="DOID:0080492", source="NCIT:C4690", source="Orphanet:99843"} ! leukocyte adhesion deficiency is_a: MONDO:0017749 {source="Orphanet:99843"} ! disorder of multiple glycosylation relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:266265", source="Orphanet:99843"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 ! congenital @@ -218870,6 +219190,7 @@ xref: OMIM:268310 {source="Orphanet:1507/e", source="MONDO:equivalentTo", source xref: Orphanet:1507 {source="OMIM:268310", source="MONDO:equivalentTo", source="DOID:0060764"} xref: Orphanet:97360 {source="OMIM:268310", source="DOID:0060764"} xref: UMLS:C5399974 {source="MEDGEN:1770070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0060764"} ! autosomal recessive disease is_a: MONDO:0019978 {source="DC-OMIM:268310", source="DOID:0060764", source="MONDO:Redundant", source="OMIM:268310", source="Orphanet:1507"} ! Robinow syndrome intersection_of: MONDO:0019978 ! Robinow syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -219006,7 +219327,7 @@ xref: Orphanet:3118 {source="OMIM:268650"} xref: SCTID:39788007 {source="MONDO:equivalentTo"} xref: UMLS:C0406704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98357"} is_a: MONDO:0000426 {source="DOID:0060782", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060782", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system @@ -219156,6 +219477,7 @@ xref: OMIM:268900 {source="MONDO:equivalentTo", source="Orphanet:3129", source=" xref: Orphanet:3129 {source="MONDO:equivalentTo", source="OMIM:268900"} xref: SCTID:64852002 {source="MONDO:equivalentTo"} xref: UMLS:C0268563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120651"} +is_a: MONDO:0019239 {source="Orphanet:3129"} ! inborn disorder of serine family metabolism is_a: MONDO:0100477 {source="PMID:33340416"} ! disorder of methylamine metabolism relationship: disease_has_basis_in_disruption_of GO:0006544 {source="https://en.wikipedia.org/wiki/Sarcosine_dehydrogenase", source="https://orcid.org/0000-0001-5208-3432"} ! glycine metabolic process relationship: disease_has_basis_in_disruption_of GO:0008480 ! sarcosine dehydrogenase activity @@ -219211,7 +219533,7 @@ xref: UMLS:C0265227 {source="MEDGEN:120517", source="MONDO:equivalentTo", source is_a: MONDO:0000508 {source="Orphanet:798", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129308"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:798"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0019287 {source="Orphanet:798"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0070509", source="Orphanet:798"} ! ectodermal dysplasia syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15573 {source="MONDO:mim2gene_medgen"} ! SETBP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -219383,7 +219705,7 @@ xref: MEDGEN:462967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:269400 {source="Orphanet:289499", source="MONDO:equivalentTo", source="Orphanet:289499/e"} xref: Orphanet:289499 {source="MONDO:equivalentTo", source="OMIM:269400"} xref: UMLS:C3151617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462967"} -is_a: MONDO:0019503 {source="DC-OMIM:269400", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:269400", source="DOID:0080612", source="MONDO:Redundant", source="OMIM:269400"} ! anterior segment dysgenesis is_a: MONDO:0019629 {source="DOID:0060648"} ! sclerocornea intersection_of: MONDO:0019503 ! anterior segment dysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14966 ! PXDN @@ -219443,7 +219765,7 @@ xref: Orphanet:158029 {source="MONDO:equivalentTo", source="OMIM:269600"} xref: SCTID:37821003 {source="DOID:4423", source="MONDO:equivalentTo", source="EFO:1001170"} xref: UMLS:C0036489 {source="MEDGEN:19908", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C85062"} ! syndromic disease -is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618"} ! non-Langerhans cell histiocytosis +is_a: MONDO:0015531 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! non-Langerhans cell histiocytosis is_a: MONDO:0019255 {source="DOID:4423", source="MESH:D012618", source="Orphanet:158029"} ! sphingolipidosis relationship: disease_has_feature MONDO:0005509 {source="EFO:1001170"} ! histiocytoma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/613 {source="MONDO:mim2gene_medgen"} ! APOE @@ -219666,7 +219988,7 @@ xref: NORD:1710 {source="MONDO:NORD"} xref: OMIM:269880 {source="Orphanet:3163/e", source="MONDO:equivalentTo", source="Orphanet:3163"} xref: Orphanet:3163 {source="OMIM:269880", source="MONDO:equivalentTo"} xref: UMLS:C0878684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164212"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111454", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015160 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015161 {source="Orphanet:3163"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -219708,7 +220030,7 @@ xref: UMLS:C1096902 {source="MEDGEN:203367", source="MONDO:equivalentTo", source is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption is_a: MONDO:0019366 {source="Orphanet:309324"} ! free sialic acid storage disease -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:309324", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10933 {source="MONDO:mim2gene_medgen"} ! SLC17A5 @@ -219835,6 +220157,7 @@ xref: SCTID:267875002 {source="DOID:12894"} xref: SCTID:268050000 {source="DOID:12894"} xref: SCTID:83901003 {source="MONDO:equivalentTo", source="DOID:12894"} xref: UMLS:C1527336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:282890"} +is_a: MONDO:0000586 {source="DOID:12894"} ! autoimmune disorder of exocrine system is_a: MONDO:0001142 {source="MESH:D012859/inferred", source="MONDO:Redundant"} ! salivary gland disorder is_a: MONDO:0001854 {source="MONDO:Redundant"} ! lacrimal apparatus disorder is_a: MONDO:0002254 {source="NCIT:C26883"} ! syndromic disease @@ -220448,7 +220771,7 @@ xref: MESH:C536875 {source="MONDO:equivalentTo"} xref: OMIM:270960 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:270960"} xref: UMLS:C0232981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:68568"} -is_a: MONDO:0004983 {source="DC-OMIM:270960", source="MESH:C536875", source="MONDO:Redundant", source="OMIM:270960"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:270960", source="DOID:0070176", source="MESH:C536875", source="MONDO:Redundant", source="OMIM:270960"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18130 ! SYCP3 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18130 ! SYCP3 @@ -220831,7 +221154,7 @@ xref: OMIM:271510 {source="DOID:5684", source="MONDO:equivalentTo", source="Orph xref: Orphanet:93357 {source="MONDO:equivalentTo", source="OMIM:271510"} xref: SCTID:389161008 {source="MONDO:equivalentTo"} xref: UMLS:C1300260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:266247"} -is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:5684", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:271510", source="DOID:5684", source="Orphanet:93357", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5280" xsd:anyURI @@ -220911,7 +221234,8 @@ xref: MESH:C564797 {source="MONDO:equivalentTo"} xref: OMIM:271600 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:271600"} xref: UMLS:C1849054 {source="MEDGEN:338604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019667 {source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0006025 {source="DOID:0112293"} ! autosomal recessive disease +is_a: MONDO:0019667 {source="DOID:0112293", source="MONDO:Redundant", source="Orphanet:93284/btnt"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:271600", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations @@ -220940,7 +221264,7 @@ xref: OMIM:271620 {source="MONDO:equivalentTo", source="Orphanet:163665", source xref: Orphanet:163665 {source="MONDO:equivalentTo", source="OMIM:271620"} xref: SCTID:719202006 {source="MONDO:equivalentTo"} xref: UMLS:C1849053 {source="MONDO:equivalentTo", source="MEDGEN:338603", source="MONDO:MEDGEN"} -is_a: MONDO:0019667 {source="Orphanet:163665"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="DOID:0112292", source="Orphanet:163665"} ! spondyloepiphyseal dysplasia tarda relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:163665", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -220991,7 +221315,7 @@ xref: OMIM:271640 {source="MONDO:equivalentTo"} xref: Orphanet:642099 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="OMIM:271640"} xref: UMLS:C4017377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865814"} -is_a: MONDO:0019675 {source="DC-OMIM:271640", source="MONDO:Redundant"} ! spondyloepimetaphyseal dysplasia with joint laxity +is_a: MONDO:0019675 {source="DC-OMIM:271640", source="DOID:0112198", source="MONDO:Redundant", source="OMIM:271640"} ! spondyloepimetaphyseal dysplasia with joint laxity intersection_of: MONDO:0019675 ! spondyloepimetaphyseal dysplasia with joint laxity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 ! B3GALT6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17978 {source="MONDO:mim2gene_medgen"} ! B3GALT6 @@ -221055,7 +221379,7 @@ xref: MESH:C564794 {source="MONDO:equivalentTo"} xref: OMIM:271665 {source="MONDO:equivalentTo", source="Orphanet:93358", source="Orphanet:93358/e"} xref: Orphanet:93358 {source="OMIM:271665", source="MONDO:equivalentTo"} xref: UMLS:C1849011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338595"} -is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0112196", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="Orphanet:93358", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2731 {source="MONDO:mim2gene_medgen"} ! DDR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -221252,7 +221576,7 @@ xref: OMIM:271980 {source="Orphanet:22", source="MONDO:equivalentTo", source="Or xref: Orphanet:22 {source="MONDO:equivalentTo", source="OMIM:271980"} xref: SCTID:49748000 {source="MONDO:equivalentTo"} xref: UMLS:C0268631 {source="MEDGEN:124340", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000698 {source="DOID:0060175"} ! gamma-amino butyric acid metabolism disorder +is_a: MONDO:0000698 {source="DOID:0060175", source="Orphanet:22"} ! gamma-amino butyric acid metabolism disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/408 {source="MONDO:mim2gene_medgen"} ! ALDH5A1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency" xsd:anyURI {source="GARD:0007695"} @@ -221390,7 +221714,7 @@ is_a: MONDO:0002561 {source="DOID:0050441/inferred", source="MESH:D052517/inferr is_a: MONDO:0005381 ! bone disorder is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin is_a: MONDO:0019255 {source="DOID:0050441", source="MESH:D052517/inferred", source="MONDO:0018299-obsoleted", source="Orphanet:585"} ! sphingolipidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:585", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20376 {source="MONDO:mim2gene_medgen"} ! SUMF1 @@ -221483,7 +221807,7 @@ xref: Orphanet:1545 {source="MONDO:equivalentTo"} xref: Orphanet:157820 {source="OMIM:272430"} xref: SCTID:725097006 {source="MONDO:equivalentTo"} xref: UMLS:C1848947 {source="MEDGEN:338577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015526 {source="DC-OMIM:272430", source="OMIM:272430"} ! cold-induced sweating syndrome +is_a: MONDO:0015526 {source="DC-OMIM:272430", source="DOID:0080329", source="OMIM:272430"} ! cold-induced sweating syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2364 {source="MONDO:mim2gene_medgen"} ! CRLF1 [Term] @@ -221994,7 +222318,7 @@ xref: Orphanet:2723 {source="MONDO:equivalentTo", source="OMIM:273400"} xref: SCTID:239028001 {source="MONDO:equivalentTo"} xref: UMLS:C2930960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443944"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0019287 {source="MESH:C535637"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535637", source="Orphanet:2723"} ! ectodermal dysplasia syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome" xsd:anyURI {source="GARD:0002381"} [Term] @@ -222164,7 +222488,7 @@ xref: OMIM:273900 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="OMIM:273900"} xref: Orphanet:268322 {source="OMIM:273900"} xref: UMLS:C2678311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437174"} -is_a: MONDO:0100241 {source="DC-OMIM:273900", source="MESH:C567487", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia +is_a: MONDO:0100241 {source="DC-OMIM:273900", source="MESH:C567487", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:273900"} ! inherited thrombocytopenia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4036 {source="MONDO:mim2gene_medgen"} ! FYB1 [Term] @@ -222207,7 +222531,7 @@ xref: OMIM:274000 {source="Orphanet:3320", source="MONDO:equivalentTo", source=" xref: Orphanet:3320 {source="MONDO:equivalentTo", source="OMIM:274000"} xref: SCTID:85589009 {source="MONDO:equivalentTo", source="DOID:14699"} xref: UMLS:C0175703 {source="MEDGEN:61235", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99038"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14699", source="MONDO:Redundant", source="NCIT:C99038"} ! syndromic disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0018795 {source="Orphanet:3320"} ! syndromic constitutional thrombocytopenia is_a: MONDO:0019054 ! congenital limb malformation @@ -222495,7 +222819,7 @@ xref: NCIT:C121751 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"} xref: SCTID:718183003 {source="MONDO:equivalentTo"} xref: UMLS:C4273748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903446"} -is_a: MONDO:0018612 {source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred"} ! congenital hypothyroidism +is_a: MONDO:0018612 {source="DOID:0112183", source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred"} ! congenital hypothyroidism relationship: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process relationship: has_characteristic MONDO:0021140 ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/642" xsd:anyURI @@ -222526,7 +222850,7 @@ xref: OMIM:274500 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274500"} xref: SCTID:124204003 {source="MONDO:equivalentTo"} xref: UMLS:C1291299 {source="MEDGEN:226940", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112186", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis is_a: MONDO:0018612 {source="MESH:C563206", source="NCIT:C121750"} ! congenital hypothyroidism intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12015 ! TPO @@ -222569,7 +222893,7 @@ xref: OMIM:274600 {source="MONDO:equivalentTo", source="DOID:0060744", source="O xref: Orphanet:705 {source="MONDO:equivalentTo", source="DOID:0060744", source="OMIM:274600"} xref: SCTID:70348004 {source="MONDO:equivalentTo"} xref: UMLS:C0271829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82890"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060744", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060744", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0018612 {source="MONDO:Redundant", source="NCIT:C121745", source="Orphanet:705/inferred"} ! congenital hypothyroidism relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:274600", source="Orphanet:705"} ! Autosomal recessive inheritance @@ -222597,7 +222921,7 @@ xref: OMIM:274700 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274700"} xref: SCTID:23536000 {source="MONDO:equivalentTo"} xref: UMLS:C0342194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90976"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112187", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 ! TG relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11764 {source="MONDO:mim2gene_medgen"} ! TG @@ -222626,7 +222950,7 @@ xref: OMIM:274800 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274800"} xref: SCTID:17885001 {source="MONDO:equivalentTo"} xref: UMLS:C0342195 {source="MEDGEN:87429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112188", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 ! IYD relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21071 {source="MONDO:mim2gene_medgen"} ! IYD @@ -222653,7 +222977,7 @@ xref: OMIM:274900 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:274900"} xref: SCTID:63127008 {source="MONDO:equivalentTo"} xref: UMLS:C0342196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87430"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112184", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 ! DUOXA2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32698 {source="MONDO:mim2gene_medgen"} ! DUOXA2 @@ -223238,7 +223562,7 @@ xref: SCTID:61665008 {source="MONDO:equivalentTo"} xref: UMLS:C5399763 {source="MONDO:equivalentTo", source="MEDGEN:1748029", source="MONDO:MEDGEN"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202"} ! hereditary neoplastic syndrome -is_a: MONDO:0031219 {source="https://orcid.org/0000-0001-5208-3432"} ! mismatch repair cancer syndrome +is_a: MONDO:0031219 {source="OMIM:276300", source="https://orcid.org/0000-0001-5208-3432"} ! mismatch repair cancer syndrome relationship: excluded_subClassOf MONDO:0018040 {source="Orphanet:252202", source="https://github.com/monarch-initiative/mondo/issues/1583", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells relationship: excluded_subClassOf MONDO:0021190 {source="https://github.com/monarch-initiative/mondo/issues/1583", source="https://orcid.org/0000-0001-5208-3432"} ! DNA repair disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -223512,7 +223836,7 @@ xref: OMIM:276880 {source="MONDO:equivalentTo", source="Orphanet:210128", source xref: Orphanet:210128 {source="MONDO:equivalentTo", source="OMIM:276880"} xref: SCTID:60952007 {source="MONDO:equivalentTo"} xref: UMLS:C0268514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120644"} -is_a: MONDO:0019228 {source="Orphanet:210128", source="PMID:33340416"} ! inborn disorder of histidine metabolism +is_a: MONDO:0019228 {source="DOID:0112180", source="Orphanet:210128", source="PMID:33340416"} ! inborn disorder of histidine metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26444 {source="MONDO:mim2gene_medgen"} ! UROC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000589 "urocanic aciduria (disease)" xsd:string @@ -223642,7 +223966,7 @@ xref: OMIM:276904 {source="DOID:0110830", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:276904"} xref: Orphanet:886 {source="OMIM:276904"} xref: UMLS:C1848604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338506"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110830", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110830/inferred", source="MONDO:Redundant", source="OMIM:276904"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:276904"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12597 {source="MONDO:mim2gene_medgen"} ! USH1C @@ -223716,7 +224040,7 @@ xref: OMIM:277000 {source="Orphanet:247775", source="MONDO:equivalentTo", source xref: Orphanet:247775 {source="OMIM:277000", source="MONDO:equivalentTo"} xref: Orphanet:3109 {source="OMIM:277000"} xref: UMLS:C0431648 {source="MEDGEN:140915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017771 {source="Orphanet:247775"} ! Mayer-Rokitansky-Kuster-Hauser syndrome +is_a: MONDO:0017771 {source="DOID:0112178", source="Orphanet:247775"} ! Mayer-Rokitansky-Kuster-Hauser syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia" xsd:anyURI {source="GARD:0007100"} [Term] @@ -223788,7 +224112,7 @@ xref: Orphanet:2754 {source="DOID:0060376", source="GARD:0004412", source="MONDO xref: SCTID:721873007 {source="MONDO:equivalentTo"} xref: UMLS:C2745997 {source="MEDGEN:411200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124841"} ! syndromic disease -is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="Orphanet:2754"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:277170", source="MESH:C536531", source="OMIM:277170", source="Orphanet:2754"} ! orofaciodigital syndrome is_a: MONDO:0018772 {source="DOID:0060376"} ! Joubert syndrome is_a: MONDO:0020022 ! central nervous system malformation relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation @@ -223845,7 +224169,7 @@ xref: NCIT:C129303 {source="MONDO:equivalentTo"} xref: OMIM:277180 {source="MONDO:equivalentTo"} xref: Orphanet:48 {source="OMIM:277180"} xref: UMLS:C0403814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98021"} -is_a: MONDO:0018801 {source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens +is_a: MONDO:0018801 {source="DOID:0111864", source="OMIM:277180", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1884 {source="MONDO:mim2gene_medgen"} ! CFTR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -223991,7 +224315,7 @@ xref: Orphanet:26 {source="OMIM:277380"} xref: Orphanet:79284 {source="OMIM:277380", source="MONDO:equivalentTo"} xref: SCTID:80887004 {source="MONDO:equivalentTo"} xref: UMLS:C1848578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336373"} -is_a: MONDO:0016826 {source="DC-OMIM:277380", source="Orphanet:79284"} ! methylmalonic aciduria and homocystinuria +is_a: MONDO:0016826 {source="DC-OMIM:277380", source="OMIM:277380", source="Orphanet:79284"} ! methylmalonic aciduria and homocystinuria relationship: disease_has_basis_in_disruption_of GO:0007041 {source="PMID:21502308"} ! lysosomal transport relationship: disease_has_basis_in_disruption_of GO:0015889 {source="PMID:21502308"} ! cobalamin transport relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia @@ -224040,7 +224364,7 @@ xref: Orphanet:26 {source="OMIM:277400"} xref: Orphanet:79282 {source="MONDO:equivalentTo", source="OMIM:277400"} xref: SCTID:74653006 {source="MONDO:equivalentTo"} xref: UMLS:C1848561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341256"} -is_a: MONDO:0016826 {source="DC-OMIM:277400", source="Orphanet:79282"} ! methylmalonic aciduria and homocystinuria +is_a: MONDO:0016826 {source="DC-OMIM:277400", source="OMIM:277400", source="Orphanet:79282"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24525 {source="MONDO:mim2gene_medgen"} ! MMACHC @@ -224094,7 +224418,7 @@ xref: Orphanet:622 {source="MONDO:relatedTo", source="OMIM:277410"} xref: Orphanet:79283 {source="MONDO:equivalentTo", source="OMIM:277410"} xref: SCTID:31220004 {source="MONDO:equivalentTo"} xref: UMLS:C1848552 {source="MEDGEN:341253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016826 {source="DC-OMIM:277410", source="Orphanet:79283"} ! methylmalonic aciduria and homocystinuria +is_a: MONDO:0016826 {source="DC-OMIM:277410", source="OMIM:277410", source="Orphanet:79283"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0100463 {source="https://orcid.org/0000-0002-5655-9589"} ! methylmalonic aciduria and/or homocystinuria, cblD type relationship: disease_has_feature HP:0002156 ! Homocystinuria relationship: disease_has_feature HP:0002912 ! Methylmalonic acidemia @@ -224177,7 +224501,7 @@ xref: MESH:C564741 {source="MONDO:equivalentTo"} xref: OMIM:277450 {source="Orphanet:98434", source="MONDO:equivalentTo", source="Orphanet:98434/e"} xref: SCTID:724356003 {source="MONDO:equivalentTo"} xref: UMLS:C1848534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376381"} -is_a: MONDO:0015722 {source="DC-OMIM:277450", source="MONDO:Redundant", source="OMIM:277450"} ! congenital vitamin K-dependent coagulation factors deficiency +is_a: MONDO:0015722 {source="DC-OMIM:277450", source="DOID:0112173", source="MONDO:Redundant", source="OMIM:277450"} ! congenital vitamin K-dependent coagulation factors deficiency is_a: MONDO:0021181 {source="MESH:C564741", source="MONDO:Redundant"} ! inherited blood coagulation disorder intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4247 ! GGCX @@ -224257,7 +224581,7 @@ xref: MESH:C564738 {source="DOID:0060267", source="MONDO:equivalentTo"} xref: OMIM:277470 {source="GARD:0003631", source="DOID:0060267", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="OMIM:277470", source="DOID:0060267"} xref: UMLS:C1848526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376379"} -is_a: MONDO:0016759 {source="MONDO:Redundant", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="DOID:0060267", source="MONDO:Redundant", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060267", source="MONDO:Redundant", source="OMIM:277470"} ! pontocerebellar hypoplasia intersection_of: MONDO:0016759 ! pontocerebellar hypoplasia type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27561 ! TSEN54 @@ -224376,7 +224700,7 @@ xref: OMIM:277590 {source="MONDO:equivalentTo", source="Orphanet:3447", source=" xref: Orphanet:3447 {source="OMIM:277590", source="MONDO:equivalentTo"} xref: SCTID:63119004 {source="MONDO:equivalentTo"} xref: UMLS:C0265210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120511"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125599"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14731", source="MONDO:Redundant", source="NCIT:C125599"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0015159 {source="Orphanet:3447"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia @@ -224464,7 +224788,7 @@ xref: SCTID:51626007 {source="DOID:5688", source="MONDO:equivalentTo"} xref: UMLS:C0043119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12147"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:5688", source="MONDO:Redundant"} ! autosomal recessive disease -is_a: MONDO:0015333 {source="Orphanet:902", source="https://orcid.org/0000-0001-6330-7526"} ! progeroid syndrome +is_a: MONDO:0015333 {source="DOID:5688", source="Orphanet:902", source="https://orcid.org/0000-0001-6330-7526"} ! progeroid syndrome relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0016382 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary poikiloderma relationship: excluded_subClassOf MONDO:0019303 {source="Orphanet:902", source="https://orcid.org/0000-0001-5208-3432"} ! premature aging syndrome @@ -224487,7 +224811,7 @@ xref: MESH:C536699 {source="MONDO:equivalentTo"} xref: OMIM:277720 {source="MONDO:equivalentTo"} xref: Orphanet:2053 {source="OMIM:277720"} xref: UMLS:C1848470 {source="MEDGEN:376364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008675 {source="Orphanet:2053/btnt"} ! Freeman-Sheldon syndrome +is_a: MONDO:0008675 {source="DOID:0111606", source="Orphanet:2053/btnt"} ! Freeman-Sheldon syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form" xsd:anyURI {source="GARD:0010024"} [Term] @@ -224805,7 +225129,7 @@ xref: Orphanet:3467 {source="OMIM:278300"} xref: Orphanet:93601 {source="MONDO:equivalentTo", source="OMIM:278300"} xref: SCTID:72682008 {source="MONDO:equivalentTo"} xref: UMLS:C0268118 {source="MEDGEN:82771", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:278300", source="Orphanet:93601"} ! hereditary xanthinuria +is_a: MONDO:0018106 {source="DOID:0070452", source="MONDO:Redundant", source="OMIM:278300", source="Orphanet:93601"} ! hereditary xanthinuria is_a: MONDO:0019052 {source="MESH:C562584", source="MONDO:Redundant", source="Orphanet:93601/inferred"} ! inborn errors of metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12805 {source="MONDO:mim2gene_medgen"} ! XDH @@ -225148,7 +225472,7 @@ xref: MEDGEN:411414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:278850 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:278850"} xref: UMLS:C2749215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411414"} -is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="DOID:0111763", source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -225328,7 +225652,7 @@ xref: OMIM:300004 {source="Orphanet:2508/e", source="MONDO:equivalentTo", source xref: Orphanet:2508 {source="MONDO:equivalentTo", source="OMIM:300004"} xref: SCTID:763797003 {source="MONDO:equivalentTo"} xref: UMLS:C0796124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163217"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0112151", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -225361,7 +225685,7 @@ xref: Orphanet:1652 {source="OMIM:300009"} xref: Orphanet:93622 {source="MONDO:equivalentTo", source="OMIM:300009"} xref: SCTID:717789008 {source="MONDO:equivalentTo"} xref: UMLS:C1848336 {source="MEDGEN:336322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015612 {source="DC-OMIM:300009", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622"} ! Dent disease +is_a: MONDO:0015612 {source="DC-OMIM:300009", source="DOID:0081453", source="MONDO:Redundant", source="OMIM:300009", source="Orphanet:93622"} ! Dent disease intersection_of: MONDO:0015612 ! Dent disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 ! CLCN5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2023 {source="MONDO:mim2gene_medgen"} ! CLCN5 @@ -225389,7 +225713,7 @@ xref: OMIM:300018 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:300018"} xref: Orphanet:251510 {source="OMIM:300018"} xref: UMLS:C1848296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341190"} -is_a: MONDO:0010765 {source="OMIM:300018", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111777", source="OMIM:300018", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7960 {source="MONDO:mim2gene_medgen"} ! NR0B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -225437,7 +225761,7 @@ xref: MESH:C564727 {source="MONDO:equivalentTo"} xref: OMIM:300030 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300030"} xref: UMLS:C3888089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854758"} -is_a: MONDO:0019586 {source="DC-OMIM:300030", source="OMIM:300030"} ! X-linked nonsyndromic hearing loss +is_a: MONDO:0019586 {source="DC-OMIM:300030", source="DOID:0111736", source="OMIM:300030"} ! X-linked nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -225477,7 +225801,7 @@ xref: MEDGEN:163234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563144 {source="MONDO:equivalentTo"} xref: OMIM:300046 {source="MONDO:equivalentTo"} xref: UMLS:C0796229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163234"} -is_a: MONDO:0019181 {source="DC-OMIM:300046", source="OMIM:300046"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300046", source="DOID:0112049", source="OMIM:300046"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0010231 @@ -225494,7 +225818,7 @@ xref: MEDGEN:208677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563142 {source="MONDO:equivalentTo"} xref: OMIM:300047 {source="MONDO:equivalentTo"} xref: UMLS:C0796226 {source="MEDGEN:208677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300047", source="OMIM:300047"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300047", source="DOID:0112023", source="OMIM:300047"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0010232 @@ -225562,7 +225886,7 @@ xref: Orphanet:2149 {source="OMIM:300049"} xref: Orphanet:98892 {source="OMIM:300049"} xref: SCTID:448227009 {source="MONDO:equivalentTo"} xref: UMLS:C1848213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376309"} -is_a: MONDO:0020341 {source="DC-OMIM:300049"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:300049", source="OMIM:300049"} ! periventricular nodular heterotopia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -225641,7 +225965,7 @@ xref: MESH:C537454 {source="MONDO:equivalentTo"} xref: OMIM:300062 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300062"} xref: UMLS:C0796220 {source="MEDGEN:163231", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300062", source="OMIM:300062"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300062", source="DOID:0112027", source="OMIM:300062"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0010237 @@ -225701,7 +226025,7 @@ xref: MESH:C564723 {source="MONDO:equivalentTo"} xref: OMIM:300066 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300066"} xref: UMLS:C1848204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376307"} -is_a: MONDO:0019586 {source="DC-OMIM:300066", source="MONDO:Redundant", source="OMIM:300066"} ! X-linked nonsyndromic hearing loss +is_a: MONDO:0019586 {source="DC-OMIM:300066", source="DOID:0111735", source="MONDO:Redundant", source="OMIM:300066"} ! X-linked nonsyndromic hearing loss intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 ! SMPX relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11122 {source="MONDO:mim2gene_medgen"} ! SMPX @@ -225810,7 +226134,7 @@ xref: MESH:C537921 {source="MONDO:equivalentTo"} xref: OMIM:300073 {source="MONDO:equivalentTo"} xref: Orphanet:994 {source="OMIM:300073"} xref: UMLS:C1848171 {source="MONDO:equivalentTo", source="MEDGEN:341166", source="MONDO:MEDGEN"} -is_a: MONDO:0008824 {source="Orphanet:994/btnt"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="DOID:0081043", source="Orphanet:994/btnt"} ! fetal akinesia deformation sequence property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked" xsd:anyURI {source="GARD:0002293"} [Term] @@ -226032,7 +226356,7 @@ xref: MEDGEN:923000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300114 {source="MONDO:equivalentTo"} xref: Orphanet:485350 {source="MONDO:equivalentTo"} xref: UMLS:C0796221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:923000"} -is_a: MONDO:0020119 {source="OMIM:300114", source="Orphanet:485350", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0112060", source="OMIM:300114", source="Orphanet:485350", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2022 {source="MONDO:mim2gene_medgen"} ! CLCN4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -226055,7 +226379,7 @@ xref: MESH:C564713 {source="MONDO:equivalentTo"} xref: OMIM:300115 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300115"} xref: UMLS:C1848087 {source="MONDO:equivalentTo", source="MEDGEN:376278", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300115", source="OMIM:300115"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300115", source="DOID:0112029", source="OMIM:300115"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -226094,7 +226418,7 @@ synonym: "migraine, familial typical, susceptibility to, type 2" EXACT [MONDORUL xref: MEDGEN:341144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300125 {source="MONDO:equivalentTo"} xref: UMLS:C1848066 {source="MONDO:equivalentTo", source="MEDGEN:341144", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="OMIM:300125"} ! migraine with or without aura, susceptibility to relationship: excluded_subClassOf MONDO:0021146 {source="MONDO:indirect", source="https://orcid.org/0000-0001-5208-3432"} ! headache disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015954"} ! rare @@ -226143,7 +226467,7 @@ xref: GARD:22669 {source="MONDO:GARD"} xref: MEDGEN:1790509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300143 {source="MONDO:equivalentTo"} xref: UMLS:C5551510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1790509"} -is_a: MONDO:0019181 {source="DC-OMIM:300143", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300143", source="DOID:0112022", source="MONDO:Redundant", source="OMIM:300143"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 ! IL1RAPL1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5996 {source="MONDO:mim2gene_medgen"} ! IL1RAPL1 @@ -226209,7 +226533,7 @@ xref: Orphanet:85282 {source="MONDO:equivalentTo", source="OMIM:300148", source= xref: SCTID:722037004 {source="MONDO:equivalentTo"} xref: UMLS:C1846278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375855"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060801", source="OMIM:300148", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0016402 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial disease with epilepsy relationship: excluded_subClassOf MONDO:0016403 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete mitochondrial disease with peripheral neuropathy relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:85282", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity @@ -226289,7 +226613,7 @@ xref: Orphanet:2712 {source="OMIM:300166", source="MONDO:equivalentTo"} xref: Orphanet:568 {source="OMIM:300166", source="MONDO:directSiblingOf"} xref: SCTID:699300009 {source="MONDO:equivalentTo"} xref: UMLS:C1846265 {source="MONDO:equivalentTo", source="MEDGEN:337547", source="MONDO:MEDGEN"} -is_a: MONDO:0016073 {source="DC-OMIM:300166", source="OMIM:300166", source="Orphanet:2712"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:300166", source="DOID:0111809", source="OMIM:300166", source="Orphanet:2712"} ! syndromic microphthalmia relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:2712", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type @@ -226336,7 +226660,7 @@ xref: OMIM:300194 {source="Orphanet:86818/e", source="MONDO:equivalentTo", sourc xref: Orphanet:86818 {source="OMIM:300194", source="MONDO:equivalentTo"} xref: SCTID:720982007 {source="MONDO:equivalentTo"} xref: UMLS:C1846242 {source="MEDGEN:337424", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111860", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0017007 {source="Orphanet:86818", source="https://orcid.org/0000-0001-5208-3432"} ! partial deletion of the long arm of chromosome X @@ -226444,7 +226768,7 @@ xref: MEDGEN:337526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564566 {source="MONDO:equivalentTo"} xref: OMIM:300210 {source="MONDO:equivalentTo"} xref: UMLS:C1846174 {source="MEDGEN:337526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300210", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300210", source="DOID:0112024", source="MONDO:Redundant", source="OMIM:300210"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 ! TSPAN7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11854 {source="MONDO:mim2gene_medgen"} ! TSPAN7 @@ -226496,8 +226820,9 @@ xref: OMIM:300215 {source="Orphanet:452/e", source="MONDO:equivalentTo", source= xref: Orphanet:452 {source="MONDO:equivalentTo", source="OMIM:300215"} xref: SCTID:717632002 {source="MONDO:equivalentTo"} xref: UMLS:C1846171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375832"} +is_a: MONDO:0000425 {source="DOID:0112238"} ! X-linked disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease -is_a: MONDO:0018838 {source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DOID:0112238", source="MESH:C564563/inferred", source="MONDO:0015147-obsoleted", source="MONDO:Redundant", source="OMIM:300215", source="Orphanet:452/inferred"} ! lissencephaly spectrum disorders relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX @@ -227168,7 +227493,7 @@ xref: MESH:C564547 {source="MONDO:equivalentTo"} xref: OMIM:300271 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300271"} xref: UMLS:C1846038 {source="MEDGEN:375793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300271", source="OMIM:300271"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300271", source="DOID:0112059", source="OMIM:300271"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227249,7 +227574,7 @@ xref: Orphanet:238468 {source="OMIM:300291"} xref: Orphanet:98813 {source="MONDO:equivalentTo", source="OMIM:300291"} xref: SCTID:703525006 {source="MONDO:equivalentTo"} xref: UMLS:C1846006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375786"} -is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DOID:0081077", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0016535 {source="Orphanet:98813"} ! hypohidrotic ectodermal dysplasia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300291"} ! inherited @@ -227284,7 +227609,7 @@ xref: Orphanet:86788 {source="MONDO:equivalentTo", source="OMIM:300299"} xref: SCTID:718882006 {source="MONDO:equivalentTo"} xref: UMLS:C1845987 {source="MONDO:equivalentTo", source="MEDGEN:335314", source="MONDO:MEDGEN"} is_a: MONDO:0000425 {source="MESH:C564539", source="MONDO:Redundant"} ! X-linked disease -is_a: MONDO:0018542 {source="DC-OMIM:300299", source="MONDO:Redundant", source="OMIM:300299", source="Orphanet:86788"} ! severe congenital neutropenia +is_a: MONDO:0018542 {source="DC-OMIM:300299", source="DOID:0112128", source="MONDO:Redundant", source="OMIM:300299", source="Orphanet:86788"} ! severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS @@ -227357,7 +227682,7 @@ xref: MEDGEN:337461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300321 {source="GARD:0009923", source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300321"} xref: UMLS:C1845902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337461"} -is_a: MONDO:0002010 {source="DC-OMIM:300321", source="MONDO:Redundant"} ! FG syndrome +is_a: MONDO:0002010 {source="DC-OMIM:300321", source="MONDO:Redundant", source="OMIM:300321"} ! FG syndrome intersection_of: MONDO:0002010 ! FG syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 {source="MONDO:mim2gene_medgen"} ! FLNA @@ -227486,7 +227811,7 @@ xref: MESH:C564533 {source="MONDO:equivalentTo"} xref: OMIM:300324 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300324"} xref: UMLS:C1845889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335296"} -is_a: MONDO:0019181 {source="DC-OMIM:300324", source="OMIM:300324"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300324", source="DOID:0112047", source="OMIM:300324"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227677,7 +228002,7 @@ xref: MEDGEN:335293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564528 {source="MONDO:equivalentTo"} xref: OMIM:300355 {source="MONDO:equivalentTo"} xref: UMLS:C1845860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335293"} -is_a: MONDO:0019181 {source="DC-OMIM:300355", source="OMIM:300355"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300355", source="DOID:0112017", source="OMIM:300355"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -227718,7 +228043,7 @@ xref: MEDGEN:337321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564524 {source="MONDO:equivalentTo"} xref: OMIM:300372 {source="MONDO:equivalentTo"} xref: UMLS:C1845810 {source="MEDGEN:337321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300372", source="OMIM:300372"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300372", source="DOID:0112057", source="OMIM:300372"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0010310 @@ -227790,7 +228115,7 @@ xref: SCTID:111501005 {source="DOID:9883"} xref: SCTID:193222002 {source="DOID:9883"} xref: SCTID:387732009 {source="MONDO:equivalentTo"} xref: UMLS:C0917713 {source="MEDGEN:182959", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020121 {source="https://orcid.org/0000-0002-4142-7153"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:9883", source="https://orcid.org/0000-0002-4142-7153"} ! muscular dystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2928 {source="MONDO:mim2gene_medgen"} ! DMD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI @@ -227833,7 +228158,7 @@ xref: MEDGEN:337002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564522 {source="MONDO:equivalentTo"} xref: OMIM:300387 {source="MONDO:equivalentTo"} xref: UMLS:C1845672 {source="MEDGEN:337002", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300387", source="MONDO:Redundant", source="OMIM:300387"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300387", source="DOID:0112050", source="MONDO:Redundant", source="OMIM:300387"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 ! ACSL4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3571 {source="MONDO:mim2gene_medgen"} ! ACSL4 @@ -227917,7 +228242,7 @@ xref: MEDGEN:375687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300406 {source="GARD:0009924", source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300406"} xref: UMLS:C1845567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375687"} -is_a: MONDO:0002010 {source="DC-OMIM:300406"} ! FG syndrome +is_a: MONDO:0002010 {source="DC-OMIM:300406", source="OMIM:300406"} ! FG syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3" xsd:anyURI {source="GARD:0009924"} [Term] @@ -227961,7 +228286,7 @@ xref: MESH:C564502 {source="MONDO:equivalentObsolete"} xref: OMIM:300419 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300419"} xref: UMLS:C0796244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208681"} -is_a: MONDO:0019181 {source="DC-OMIM:300419", source="DC-OMIM:300504", source="OMIM:300419", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300419", source="DC-OMIM:300504", source="DOID:0112021", source="OMIM:300419", source="OMIM:300504"} ! non-syndromic X-linked intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -227985,7 +228310,7 @@ xref: MEDGEN:336965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300422 {source="GARD:0009925", source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300422"} xref: UMLS:C1845546 {source="MEDGEN:336965", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002010 {source="DC-OMIM:300422", source="MONDO:Redundant"} ! FG syndrome +is_a: MONDO:0002010 {source="DC-OMIM:300422", source="MONDO:Redundant", source="OMIM:300422"} ! FG syndrome intersection_of: MONDO:0002010 ! FG syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 ! CASK relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1497 {source="MONDO:mim2gene_medgen"} ! CASK @@ -228091,7 +228416,7 @@ xref: MEDGEN:162922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563135 {source="MONDO:equivalentTo"} xref: OMIM:300428 {source="MONDO:equivalentTo"} xref: UMLS:C0796207 {source="MEDGEN:162922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300428", source="OMIM:300428"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300428", source="DOID:0112016", source="OMIM:300428"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0010323 @@ -228133,7 +228458,7 @@ xref: MEDGEN:335203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564515 {source="MONDO:equivalentTo"} xref: OMIM:300433 {source="MONDO:equivalentTo"} xref: UMLS:C1845531 {source="MEDGEN:335203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300433", source="OMIM:300433"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300433", source="DOID:0112033", source="OMIM:300433"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228165,7 +228490,7 @@ xref: OMIM:300434 {source="Orphanet:85288", source="MONDO:equivalentTo", source= xref: Orphanet:85288 {source="MONDO:equivalentTo", source="OMIM:300434"} xref: SCTID:718910006 {source="MONDO:equivalentTo"} xref: UMLS:C1845530 {source="MEDGEN:335202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020119 {source="OMIM:300434", source="Orphanet:85288", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0112126", source="OMIM:300434", source="Orphanet:85288", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29215 {source="MONDO:mim2gene_medgen"} ! SHROOM4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -228193,7 +228518,7 @@ xref: MESH:C564513 {source="MONDO:equivalentTo"} xref: OMIM:300436 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300436"} xref: UMLS:C1845526 {source="MEDGEN:337255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300436", source="MONDO:Redundant", source="OMIM:300436"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300436", source="DOID:0112055", source="MONDO:Redundant", source="OMIM:300436"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 ! ARHGEF6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/685 {source="MONDO:mim2gene_medgen"} ! ARHGEF6 @@ -228290,7 +228615,7 @@ xref: OMIM:300448 {source="MONDO:equivalentTo", source="Orphanet:231401", source xref: Orphanet:231401 {source="MONDO:equivalentTo", source="OMIM:300448"} xref: SCTID:307343001 {source="MONDO:equivalentTo"} xref: UMLS:C0585216 {source="MEDGEN:108433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0112125", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder relationship: excluded_subClassOf MONDO:0021141 {source="https://orcid.org/0000-0001-5208-3432", comment="acquired through somatic mutations"} ! acquired relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX @@ -228313,7 +228638,7 @@ xref: MEDGEN:335199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564511 {source="MONDO:equivalentTo"} xref: OMIM:300454 {source="MONDO:equivalentTo"} xref: UMLS:C1845499 {source="MEDGEN:335199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300454", source="OMIM:300454"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300454", source="DOID:0112039", source="OMIM:300454"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228405,7 +228730,7 @@ xref: OMIM:300472 {source="Orphanet:52055/e", source="MONDO:equivalentTo", sourc xref: Orphanet:52055 {source="OMIM:300472", source="MONDO:equivalentTo", source="DOID:0060816"} xref: SCTID:722282008 {source="MONDO:equivalentTo"} xref: UMLS:C1845446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335185"} -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060816", source="OMIM:300472", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:0017122-obsoleted"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:300472", source="DOID:0060816", source="OMIM:300472", source="Orphanet:52055", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability @@ -228509,7 +228834,7 @@ xref: OMIM:300484 {source="DOID:0060378", source="MONDO:equivalentTo", source="O xref: Orphanet:2755 {source="DOID:0060378", source="OMIM:300484", source="MONDO:equivalentTo"} xref: SCTID:722106001 {source="MONDO:equivalentTo"} xref: UMLS:C0796101 {source="MEDGEN:208667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="Orphanet:2755"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:300484", source="DOID:0060378", source="MESH:C557820", source="OMIM:300484", source="Orphanet:2755"} ! orofaciodigital syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228553,7 +228878,7 @@ xref: Orphanet:137831 {source="MONDO:equivalentTo", source="OMIM:300486"} xref: SCTID:719136005 {source="MONDO:equivalentTo"} xref: UMLS:C1845366 {source="MONDO:equivalentTo", source="MEDGEN:336920", source="MONDO:MEDGEN"} is_a: MONDO:0020022 ! central nervous system malformation -is_a: MONDO:0020119 {source="Orphanet:137831", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0080311", source="OMIM:300486", source="Orphanet:137831", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:137831", source="Orphanet:137831/inferred"} ! disorder of development or morphogenesis relationship: disease_has_major_feature MONDO:0020022 ! central nervous system malformation relationship: has_characteristic HP:0001417 ! X-linked inheritance @@ -228598,7 +228923,7 @@ xref: OMIM:300489 {source="Orphanet:139557", source="MONDO:equivalentTo", source xref: Orphanet:139557 {source="MONDO:equivalentTo", source="OMIM:300489"} xref: SCTID:766764008 {source="MONDO:equivalentTo"} xref: UMLS:C1845359 {source="MEDGEN:335168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001516 {source="DC-OMIM:300489", source="MESH:C564506", source="MONDO:Redundant"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DC-OMIM:300489", source="DOID:0111196", source="MESH:C564506", source="MONDO:Redundant"} ! spinal muscular atrophy is_a: MONDO:0018894 {source="https://orcid.org/0000-0002-5002-8648"} ! distal hereditary motor neuropathy intersection_of: MONDO:0001516 ! spinal muscular atrophy intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -228747,7 +229072,7 @@ xref: MEDGEN:375633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564503 {source="MONDO:equivalentTo"} xref: OMIM:300498 {source="MONDO:equivalentTo"} xref: UMLS:C1845333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375633"} -is_a: MONDO:0019181 {source="DC-OMIM:300498", source="MONDO:Redundant", source="OMIM:300498"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300498", source="DOID:0112028", source="MONDO:Redundant", source="OMIM:300498"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 ! ZNF81 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13156 {source="MONDO:mim2gene_medgen"} ! ZNF81 @@ -228784,7 +229109,7 @@ xref: MEDGEN:337203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564501 {source="MONDO:equivalentTo"} xref: OMIM:300505 {source="MONDO:equivalentTo"} xref: UMLS:C1845297 {source="MEDGEN:337203", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300505", source="OMIM:300505"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300505", source="DOID:0112030", source="OMIM:300505"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -228825,7 +229150,7 @@ xref: OMIM:300510 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:300510"} xref: UMLS:C1845294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336903"} is_a: MONDO:0005387 {source="OMIM:300510"} ! primary ovarian failure -is_a: MONDO:0009299 {source="OMIM:300510", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080494", source="OMIM:300510", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0005387 ! primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 ! BMP15 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1068 {source="MONDO:mim2gene_medgen"} ! BMP15 @@ -228904,7 +229229,7 @@ xref: MESH:C564496 {source="MONDO:equivalentTo"} xref: OMIM:300518 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300518"} xref: UMLS:C1845286 {source="MEDGEN:337201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300518", source="OMIM:300518"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300518", source="DOID:0112052", source="OMIM:300518"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229093,6 +229418,7 @@ xref: Orphanet:93622 {source="MONDO:relatedTo", source="OMIM:300554"} xref: UMLS:C1845168 {source="MEDGEN:335115", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000044 {source="MONDO:0010358/inferred", source="MONDO:Redundant", source="OMIM:300554"} ! hereditary hypophosphatemic rickets is_a: MONDO:0005520 {source="DOID:0080353", source="MONDO:indirect"} ! rickets +is_a: MONDO:0020605 {source="DOID:0080353"} ! X-linked recessive disease is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_characteristic HP:0001419 ! X-linked recessive inheritance @@ -229126,7 +229452,7 @@ xref: Orphanet:1652 {source="OMIM:300555"} xref: Orphanet:93623 {source="MONDO:equivalentTo", source="OMIM:300555"} xref: SCTID:717790004 {source="MONDO:equivalentTo"} xref: UMLS:C1845167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336867"} -is_a: MONDO:0015612 {source="DC-OMIM:300555", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623"} ! Dent disease +is_a: MONDO:0015612 {source="DC-OMIM:300555", source="DOID:0081454", source="MONDO:Redundant", source="OMIM:300555", source="Orphanet:93623"} ! Dent disease intersection_of: MONDO:0015612 ! Dent disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 ! OCRL relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8108 {source="MONDO:mim2gene_medgen"} ! OCRL @@ -229172,7 +229498,7 @@ xref: MEDGEN:163235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300558 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300558"} xref: UMLS:C0796237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163235"} -is_a: MONDO:0019181 {source="DC-OMIM:300558", source="MONDO:Redundant", source="OMIM:300558"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300558", source="DOID:0112051", source="MONDO:Redundant", source="OMIM:300558"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 ! PAK3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8592 {source="MONDO:mim2gene_medgen"} ! PAK3 @@ -229225,7 +229551,7 @@ xref: NANDO:2201167 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:300559 {source="MONDO:equivalentTo", source="Orphanet:715", source="DOID:0111040", source="https://www.ncbi.nlm.nih.gov/books/NBK55061/", source="Orphanet:715/e"} xref: Orphanet:715 {source="MONDO:equivalentTo", source="DOID:0111040", source="GARD:0003858", source="OMIM:300559"} xref: UMLS:C1845151 {source="MEDGEN:335112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="OMIM:300559", source="PMID:33340416"} ! disorder of glycogen metabolism intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8925 {source="MONDO:mim2gene_medgen"} ! PHKA1 relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity @@ -229254,7 +229580,7 @@ xref: MEDGEN:375592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564482 {source="MONDO:equivalentTo"} xref: OMIM:300577 {source="MONDO:equivalentTo"} xref: UMLS:C1845142 {source="MEDGEN:375592", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300577", source="MONDO:Redundant", source="OMIM:300577"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300577", source="DOID:0112043", source="MONDO:Redundant", source="OMIM:300577"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 ! ZDHHC15 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20342 {source="MONDO:mim2gene_medgen"} ! ZDHHC15 @@ -229313,7 +229639,7 @@ xref: MESH:C567594 {source="MONDO:equivalentTo"} xref: OMIM:300580 {source="MONDO:equivalentTo"} xref: Orphanet:2020 {source="OMIM:300580"} xref: UMLS:C2749128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440714"} -is_a: MONDO:0009711 {source="Orphanet:2020/btnt"} ! congenital fiber-type disproportion myopathy +is_a: MONDO:0009711 {source="DOID:0111226", source="Orphanet:2020/btnt"} ! congenital fiber-type disproportion myopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -229326,7 +229652,7 @@ xref: MESH:C564480 {source="MONDO:equivalentTo"} xref: OMIM:300581 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300581"} xref: UMLS:C1845119 {source="MONDO:equivalentTo", source="MEDGEN:336854", source="MONDO:MEDGEN"} -is_a: MONDO:0002010 {source="DC-OMIM:300581"} ! FG syndrome +is_a: MONDO:0002010 {source="DC-OMIM:300581", source="OMIM:300581"} ! FG syndrome [Term] id: MONDO:0010367 @@ -229375,7 +229701,7 @@ xref: MEDGEN:375583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300589 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:300589"} xref: UMLS:C1845116 {source="MEDGEN:375583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005712 {source="DC-OMIM:300589", source="OMIM:300589"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:300589", source="DOID:0111796", source="OMIM:300589"} ! congenital nystagmus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -229404,7 +229730,7 @@ xref: NCIT:C75485 {source="MONDO:equivalentTo"} xref: OMIM:300590 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:300590"} xref: UMLS:C1802395 {source="MEDGEN:315658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016033 {source="DC-OMIM:300590", source="MONDO:Redundant", source="NCIT:C75485", source="OMIM:300590"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DC-OMIM:300590", source="DOID:0080506", source="MONDO:Redundant", source="NCIT:C75485", source="OMIM:300590"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A @@ -229621,6 +229947,7 @@ xref: SCTID:718210003 {source="MONDO:equivalentTo"} xref: UMLS:C0796275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208683"} is_a: MONDO:0004736 {source="DOID:0060693"} ! inborn disorder of amino acid metabolism is_a: MONDO:0019219 {source="Orphanet:3057"} ! inborn disorder of neurotransmitter metabolism and transport +is_a: MONDO:0020605 {source="DOID:0060693"} ! X-linked recessive disease relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6833 {source="MONDO:mim2gene_medgen"} ! MAOA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -229741,7 +230068,7 @@ xref: Orphanet:908 {source="MONDO:equivalentTo", source="OMIM:300624"} xref: SCTID:390007001 {source="DOID:14261"} xref: SCTID:613003 {source="DOID:14261", source="MONDO:equivalentTo"} xref: UMLS:C0016667 {source="MEDGEN:8912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84717"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14261", source="MONDO:Redundant", source="NCIT:C84717"} ! syndromic disease relationship: excluded_subClassOf MONDO:0005027 {source="MONDO:0015652-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! epilepsy relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:908", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease @@ -229806,6 +230133,7 @@ xref: UMLS:C1845076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000001 {source="Orphanet:538934"} ! disease is_a: MONDO:0010627 {source="MESH:C564469", source="MONDO:Redundant", source="Orphanet:2442/btnt", source="Orphanet:538934"} ! X-linked lymphoproliferative syndrome is_a: MONDO:0016537 {source="DOID:0060706", source="MESH:C564469", source="MONDO:Redundant", source="OMIM:300635"} ! lymphoproliferative syndrome +is_a: MONDO:0020605 {source="DOID:0060706"} ! X-linked recessive disease is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C126295"} ! immunodeficiency disease intersection_of: MONDO:0010627 ! X-linked lymphoproliferative syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/592 ! XIAP @@ -230047,7 +230375,7 @@ xref: MEDGEN:410164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567066 {source="MONDO:equivalentTo"} xref: OMIM:300659 {source="MONDO:equivalentTo"} xref: UMLS:C1970841 {source="MEDGEN:410164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300659", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300659", source="DOID:0112045", source="MONDO:Redundant", source="OMIM:300659"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 ! BRWD3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17342 {source="MONDO:mim2gene_medgen"} ! BRWD3 @@ -230122,7 +230450,7 @@ xref: UMLS:C4750718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0015653 {source="Orphanet:505652"} ! monogenic epilepsy is_a: MONDO:0017746 {source="Orphanet:3095/btnt"} ! atypical Rett syndrome is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:300672", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:300672", source="DOID:0080467", source="MONDO:Redundant", source="OMIM:300672"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 ! CDKL5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11411 {source="MONDO:mim2gene_medgen", source="Orphanet:505652"} ! CDKL5 @@ -230313,7 +230641,7 @@ xref: MESH:C567479 {source="MONDO:equivalentTo"} xref: OMIM:300699 {source="MONDO:equivalentTo", source="DOID:0060823"} xref: Orphanet:364028 {source="DOID:0060823", source="OMIM:300699"} xref: UMLS:C2678051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:437111"} -is_a: MONDO:0020119 {source="OMIM:300699"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060823", source="OMIM:300699"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4573 {source="MONDO:mim2gene_medgen"} ! GRIA3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -230373,7 +230701,7 @@ xref: OMIM:300703 {source="MONDO:equivalentTo", source="Orphanet:314978", source xref: Orphanet:314978 {source="MONDO:equivalentTo", source="OMIM:300703"} xref: SCTID:766818009 {source="MONDO:equivalentTo"} xref: UMLS:C2678048 {source="MEDGEN:394718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016612 {source="Orphanet:314978"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0111833", source="Orphanet:314978"} ! X-linked cerebellar ataxia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230411,7 +230739,7 @@ xref: MEDGEN:208679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300705 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300705"} xref: UMLS:C0796238 {source="MEDGEN:208679", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300705", source="OMIM:300705"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300705", source="DOID:0112037", source="OMIM:300705"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -230486,7 +230814,7 @@ xref: OMIM:300707 {source="Orphanet:140952/e", source="MONDO:equivalentTo", sour xref: Orphanet:140952 {source="OMIM:300707", source="MONDO:equivalentTo"} xref: SCTID:723581006 {source="MONDO:equivalentTo"} xref: UMLS:C2678045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394424"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111931", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:140952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0800066 {source="PMID:31633310"} ! polydactyly-syndactyly-triphalangism @@ -230999,7 +231327,7 @@ xref: GARD:22685 {source="MONDO:GARD"} xref: MEDGEN:477039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300802 {source="MONDO:equivalentTo"} xref: UMLS:C3275408 {source="MEDGEN:477039", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300802", source="MONDO:Redundant", source="OMIM:300802"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300802", source="DOID:0112035", source="MONDO:Redundant", source="OMIM:300802"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 ! SYP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11506 {source="MONDO:mim2gene_medgen"} ! SYP @@ -231029,7 +231357,7 @@ xref: MEDGEN:440689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567583 {source="MONDO:equivalentTo"} xref: OMIM:300803 {source="MONDO:equivalentTo"} xref: UMLS:C2749020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:440689"} -is_a: MONDO:0019181 {source="DC-OMIM:300803", source="MONDO:Redundant", source="OMIM:300803"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300803", source="DOID:0112046", source="MONDO:Redundant", source="OMIM:300803"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 ! ZNF711 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13128 {source="MONDO:mim2gene_medgen"} ! ZNF711 @@ -231154,7 +231482,7 @@ xref: MEDGEN:463102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300814 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:300814"} xref: UMLS:C3151752 {source="MEDGEN:463102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005712 {source="DC-OMIM:300814", source="OMIM:300814"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:300814", source="DOID:0111795", source="OMIM:300814"} ! congenital nystagmus is_a: MONDO:0700230 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! GPR143-related foveal hypoplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20145 {source="MONDO:mim2gene_medgen"} ! GPR143 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -231205,7 +231533,7 @@ xref: OMIM:300816 {source="Orphanet:238329", source="MONDO:equivalentTo", source xref: Orphanet:238329 {source="OMIM:300816", source="MONDO:equivalentTo"} xref: SCTID:722212004 {source="MONDO:equivalentTo"} xref: UMLS:C3151753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463103"} -is_a: MONDO:0000732 {source="DC-OMIM:300816", source="OMIM:300816"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:300816", source="DOID:0111502", source="OMIM:300816"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -231319,7 +231647,7 @@ xref: MEDGEN:463132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300833 {source="MONDO:equivalentTo"} xref: Orphanet:393 {source="OMIM:300833"} xref: UMLS:C3151782 {source="MEDGEN:463132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100249 {source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="DOID:0111762", source="Orphanet:393/btnt"} ! 46,XX testicular disorder of sex development property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231418,7 +231746,7 @@ xref: MESH:C563141 {source="MONDO:equivalentTo"} xref: OMIM:300844 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300844"} xref: UMLS:C0796225 {source="MEDGEN:208676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300844", source="MONDO:Redundant", source="OMIM:300844"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300844", source="DOID:0112019", source="MONDO:Redundant", source="OMIM:300844"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 ! RPS6KA3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10432 {source="MONDO:mim2gene_medgen"} ! RPS6KA3 @@ -231487,7 +231815,7 @@ xref: MESH:C564036 {source="MONDO:equivalentTo"} xref: OMIM:300848 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300848"} xref: UMLS:C1839082 {source="MEDGEN:333247", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300848", source="OMIM:300848"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300848", source="DOID:0112031", source="OMIM:300848"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231512,7 +231840,7 @@ xref: GARD:22689 {source="MONDO:GARD"} xref: MEDGEN:854647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300849 {source="MONDO:equivalentTo"} xref: UMLS:C3887939 {source="MEDGEN:854647", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300849", source="MONDO:Redundant", source="OMIM:300849"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300849", source="DOID:0112058", source="MONDO:Redundant", source="OMIM:300849"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 ! GDI1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4226 {source="MONDO:mim2gene_medgen"} ! GDI1 @@ -231538,7 +231866,7 @@ xref: GARD:22690 {source="MONDO:GARD"} xref: MEDGEN:477074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300850 {source="MONDO:equivalentTo"} xref: UMLS:C3275443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477074"} -is_a: MONDO:0019181 {source="DC-OMIM:300850", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300850", source="DOID:0112041", source="MONDO:Redundant", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 ! DLG3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2902 {source="MONDO:mim2gene_medgen"} ! DLG3 @@ -231560,7 +231888,7 @@ xref: MEDGEN:335109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564483 {source="MONDO:equivalentTo"} xref: OMIM:300851 {source="MONDO:equivalentTo"} xref: UMLS:C1845144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335109"} -is_a: MONDO:0019181 {source="DC-OMIM:300851", source="OMIM:300851"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300851", source="DOID:0112032", source="OMIM:300851"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -231579,7 +231907,7 @@ xref: MEDGEN:477075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300852 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:300852"} xref: UMLS:C3275444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477075"} -is_a: MONDO:0019181 {source="DC-OMIM:300852", source="OMIM:300852"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300852", source="DOID:0112053", source="OMIM:300852"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4677" xsd:anyURI [Term] @@ -231609,7 +231937,7 @@ xref: OMIM:300853 {source="Orphanet:317476/e", source="MONDO:equivalentTo", sour xref: Orphanet:317476 {source="MONDO:equivalentTo", source="OMIM:300853"} xref: SCTID:711481001 {source="MONDO:equivalentTo"} xref: UMLS:C3275445 {source="MEDGEN:477076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015131 {source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency +is_a: MONDO:0015131 {source="DOID:0080319", source="https://orcid.org/0000-0001-5208-3432"} ! combined immunodeficiency relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:317476", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28880 {source="MONDO:mim2gene_medgen"} ! MAGT1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -231918,7 +232246,7 @@ is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017748 {source="Orphanet:300496"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: MONDO:0100062 {source="DC-OMIM:300868", source="OMIM:300868"} ! developmental and epileptic encephalopathy -is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:300496"} ! multiple congenital anomalies-hypotonia-seizures syndrome +is_a: MONDO:0100247 {source="DOID:0080139", source="MONDO:Redundant", source="OMIM:300868", source="Orphanet:300496"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8957 ! PIGA relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -231970,7 +232298,7 @@ xref: MEDGEN:324377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563670 {source="MONDO:equivalentTo"} xref: OMIM:300870 {source="MONDO:equivalentTo"} xref: UMLS:C1835857 {source="MEDGEN:324377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:300870", source="OMIM:300870"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:300870", source="DOID:0080968", source="OMIM:300870"} ! intracranial berry aneurysm [Term] id: MONDO:0010469 @@ -231988,6 +232316,7 @@ xref: OMIM:300872 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300872"} xref: UMLS:C3550875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763789"} is_a: MONDO:0020573 {source="OMIM:300872"} ! inherited disease susceptibility +is_a: MONDO:0020836 {source="OMIM:300872"} ! autism, susceptiblity to relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18308 {source="MONDO:mim2gene_medgen"} ! TMLHE relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232018,7 +232347,7 @@ xref: MEDGEN:763817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300882 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:300882"} xref: UMLS:C3550903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763817"} -is_a: MONDO:0016033 {source="DC-OMIM:300882", source="OMIM:300882"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DC-OMIM:300882", source="DOID:0080509", source="OMIM:300882"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -232053,10 +232382,10 @@ xref: Orphanet:324422 {source="MONDO:equivalentTo", source="OMIM:300884"} xref: SCTID:733451007 {source="MONDO:equivalentTo"} xref: UMLS:C4317295 {source="MEDGEN:1382656", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:300884"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:300884", source="OMIM:300884"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:324422"} ! disorder of protein N-glycosylation -is_a: MONDO:0100062 {source="OMIM:300884"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080470", source="OMIM:300884"} ! developmental and epileptic encephalopathy relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30881 {source="MONDO:mim2gene_medgen"} ! ALG13 @@ -232109,7 +232438,7 @@ xref: MEDGEN:763835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300887 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:300887"} xref: UMLS:C3550921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763835"} -is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300887", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies +is_a: MONDO:0010672 {source="DOID:0111877", source="MONDO:Redundant", source="OMIM:300887", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 ! COX7B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2291 {source="MONDO:mim2gene_medgen"} ! COX7B @@ -232143,7 +232472,7 @@ xref: OMIM:300888 {source="Orphanet:329235/e", source="DOID:0111140", source="MO xref: Orphanet:329235 {source="DOID:0111140", source="MONDO:equivalentTo", source="OMIM:300888"} xref: UMLS:C3550963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:763877"} is_a: MONDO:0000425 {source="DOID:0111140"} ! X-linked disease -is_a: MONDO:0002254 {source="NCIT:C130989"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111140", source="NCIT:C130989"} ! syndromic disease is_a: MONDO:0016410 {source="Orphanet:329235"} ! central congenital hypothyroidism relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5948 {source="MONDO:mim2gene_medgen"} ! IGSF1 @@ -232250,7 +232579,7 @@ xref: MEDGEN:813018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300896 {source="Orphanet:356961", source="MONDO:equivalentTo", source="Orphanet:356961/e"} xref: Orphanet:356961 {source="MONDO:equivalentTo", source="OMIM:300896"} xref: UMLS:C3806688 {source="MEDGEN:813018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005501 {source="DC-OMIM:300896", source="OMIM:300896"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:300896", source="DOID:0070265", source="OMIM:300896"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017749 {source="Orphanet:356961"} ! disorder of multiple glycosylation @@ -232446,7 +232775,7 @@ xref: MEDGEN:813067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300914 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300914"} xref: UMLS:C3806737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813067"} -is_a: MONDO:0019586 {source="DC-OMIM:300914", source="MONDO:Redundant", source="OMIM:300914"} ! X-linked nonsyndromic hearing loss +is_a: MONDO:0019586 {source="DC-OMIM:300914", source="DOID:0111740", source="MONDO:Redundant", source="OMIM:300914"} ! X-linked nonsyndromic hearing loss intersection_of: MONDO:0019586 ! X-linked nonsyndromic hearing loss intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2208 ! COL4A6 relationship: has_characteristic HP:0001417 ! X-linked inheritance @@ -232477,8 +232806,9 @@ xref: MEDGEN:813072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300915 {source="Orphanet:431140/e", source="MONDO:equivalentTo", source="Orphanet:431140"} xref: Orphanet:431140 {source="OMIM:300915", source="MONDO:equivalentTo"} xref: UMLS:C3806742 {source="MONDO:equivalentTo", source="MEDGEN:813072", source="MONDO:MEDGEN"} +is_a: MONDO:0000425 {source="DOID:0111811"} ! X-linked disease is_a: MONDO:0015159 {source="Orphanet:431140"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0016073 {source="DC-OMIM:300915", source="OMIM:300915", source="Orphanet:431140"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:300915", source="DOID:0111811", source="OMIM:300915", source="Orphanet:431140"} ! syndromic microphthalmia relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5004 {source="MONDO:mim2gene_medgen"} ! HMGB3 @@ -232497,7 +232827,7 @@ xref: MEDGEN:813075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300918 {source="MONDO:equivalentTo"} xref: Orphanet:659 {source="OMIM:300918"} xref: UMLS:C3806745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813075"} -is_a: MONDO:0031421 {source="OMIM:300918"} ! Olmsted syndrome +is_a: MONDO:0031421 {source="DOID:0112012", source="OMIM:300918"} ! Olmsted syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 {source="MONDO:mim2gene_medgen"} ! MBTPS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232521,7 +232851,7 @@ xref: GARD:22693 {source="MONDO:GARD"} xref: MEDGEN:813076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300919 {source="MONDO:equivalentTo"} xref: UMLS:C3806746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813076"} -is_a: MONDO:0019181 {source="DC-OMIM:300919", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300919", source="DOID:0112026", source="MONDO:Redundant", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X @@ -232546,7 +232876,7 @@ xref: DOID:0112040 {source="MONDO:equivalentTo"} xref: MEDGEN:855516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300923 {source="MONDO:equivalentTo"} xref: UMLS:C3890167 {source="MEDGEN:855516", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:300923", source="MONDO:Redundant", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300923", source="DOID:0112040", source="MONDO:Redundant", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 ! KIF4A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13339 {source="MONDO:mim2gene_medgen"} ! KIF4A @@ -232572,7 +232902,7 @@ xref: GARD:22694 {source="MONDO:GARD"} xref: MEDGEN:855517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300928 {source="MONDO:equivalentTo"} xref: UMLS:C3890168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:855517"} -is_a: MONDO:0019181 {source="DC-OMIM:300928", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300928", source="DOID:0112048", source="MONDO:Redundant", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 ! MID2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7096 {source="MONDO:mim2gene_medgen"} ! MID2 @@ -232609,7 +232939,7 @@ xref: OMIM:300934 {source="Orphanet:370927", source="MONDO:equivalentTo", source xref: Orphanet:370927 {source="MONDO:equivalentTo", source="OMIM:300934"} xref: SCTID:733115009 {source="MONDO:equivalentTo"} xref: UMLS:C4012395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860832"} -is_a: MONDO:0005500 {source="DC-OMIM:300934"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:300934", source="DOID:0080574", source="OMIM:300934"} ! congenital disorder of glycosylation type I is_a: MONDO:0015159 {source="Orphanet:370927"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015286 {source="MONDO:0010490/inferred", source="MONDO:Redundant", source="OMIM:300934", source="Orphanet:370927/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370927"} ! disorder of protein N-glycosylation @@ -232698,7 +233028,7 @@ xref: GARD:15275 {source="MONDO:GARD"} xref: MEDGEN:895657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300946 {source="MONDO:equivalentTo"} xref: UMLS:C4225422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895657"} -is_a: MONDO:0015253 {source="DC-OMIM:300946", source="MONDO:Redundant", source="OMIM:300946"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:300946", source="DOID:0111897", source="MONDO:Redundant", source="OMIM:300946"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 ! TSR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25455 {source="MONDO:mim2gene_medgen"} ! TSR2 @@ -232724,7 +233054,7 @@ xref: MEDGEN:906997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300952 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:300952"} xref: UMLS:C4225421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906997"} -is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:300952", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies +is_a: MONDO:0010672 {source="DOID:0111876", source="MONDO:Redundant", source="OMIM:300952", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -232778,7 +233108,7 @@ xref: OMIM:300957 {source="Orphanet:457240/e", source="MONDO:equivalentTo", sour xref: Orphanet:457240 {source="MONDO:equivalentTo"} xref: UMLS:C0796218 {source="MEDGEN:901885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:457240"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0020119 {source="Orphanet:457240", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0112056", source="Orphanet:457240", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19073 {source="MONDO:mim2gene_medgen"} ! THOC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -232948,7 +233278,7 @@ xref: DOID:0112025 {source="MONDO:equivalentTo"} xref: MEDGEN:899839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300968 {source="MONDO:equivalentTo"} xref: UMLS:C4225416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899839"} -is_a: MONDO:0020119 {source="DC-OMIM:300968", source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DC-OMIM:300968", source="DOID:0112025", source="MONDO:Redundant", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 ! USP9X relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12632 {source="MONDO:mim2gene_medgen"} ! USP9X @@ -232975,7 +233305,7 @@ xref: MEDGEN:934787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300971 {source="MONDO:equivalentTo", source="DOID:0110147"} xref: Orphanet:570371 {source="MONDO:equivalentTo"} xref: UMLS:C4310820 {source="MEDGEN:934787", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="OMIM:300971"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DOID:0110147", source="MONDO:Redundant", source="OMIM:300971", source="Orphanet:570371"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 ! MAGED2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16353 {source="MONDO:mim2gene_medgen"} ! MAGED2 @@ -233000,7 +233330,7 @@ xref: DOID:0112002 {source="MONDO:equivalentTo"} xref: MEDGEN:934786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300972 {source="MONDO:equivalentTo"} xref: UMLS:C4310819 {source="MEDGEN:934786", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003778 {source="DC-OMIM:300972", source="MONDO:Redundant"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DC-OMIM:300972", source="DOID:0112002", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/868 ! ATP6AP1 @@ -233110,7 +233440,7 @@ xref: MEDGEN:934785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300982 {source="MONDO:equivalentTo"} xref: UMLS:C4310818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934785"} is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease -is_a: MONDO:0019181 {source="DC-OMIM:300982", source="MONDO:Redundant", source="OMIM:300982"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300982", source="DOID:0112020", source="MONDO:Redundant", source="OMIM:300982"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 ! KLHL15 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29347 {source="MONDO:mim2gene_medgen"} ! KLHL15 @@ -233136,7 +233466,7 @@ xref: GARD:22696 {source="MONDO:GARD"} xref: MEDGEN:934784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300983 {source="MONDO:equivalentTo"} xref: UMLS:C4310817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934784"} -is_a: MONDO:0019181 {source="DC-OMIM:300983", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300983", source="DOID:0112018", source="MONDO:Redundant", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 ! FRMPD4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29007 {source="MONDO:mim2gene_medgen"} ! FRMPD4 @@ -233162,7 +233492,7 @@ xref: GARD:22697 {source="MONDO:GARD"} xref: MEDGEN:934783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300984 {source="MONDO:equivalentTo"} xref: UMLS:C4310816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934783"} -is_a: MONDO:0019181 {source="DC-OMIM:300984", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300984", source="DOID:0112036", source="MONDO:Redundant", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 ! USP27X relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13486 {source="MONDO:mim2gene_medgen"} ! USP27X @@ -233183,7 +233513,7 @@ xref: GARD:15279 {source="MONDO:GARD"} xref: MEDGEN:934782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300985 {source="MONDO:equivalentTo"} xref: UMLS:C4310815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934782"} -is_a: MONDO:0018801 {source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens +is_a: MONDO:0018801 {source="DOID:0111863", source="OMIM:300985", source="Orphanet:48/btnt"} ! congenital bilateral absence of vas deferens relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4516 {source="MONDO:mim2gene_medgen"} ! ADGRG2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -233203,7 +233533,7 @@ xref: GARD:13442 {source="MONDO:GARD"} xref: MEDGEN:934781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300986 {source="MONDO:equivalentTo"} xref: UMLS:C4310814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934781"} -is_a: MONDO:0020119 {source="DC-OMIM:300986", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DC-OMIM:300986", source="DOID:0070538", source="OMIM:300986", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5042 {source="MONDO:mim2gene_medgen"} ! HNRNPH2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -233240,7 +233570,7 @@ xref: Orphanet:504530 {source="MONDO:equivalentTo"} xref: UMLS:C5568123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799546"} is_a: MONDO:0003778 {source="DC-OMIM:300988", source="MONDO:indirect"} ! inborn error of immunity is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease -is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency +is_a: MONDO:0015131 {source="DOID:0112001", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:300988"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:504530", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7373 {source="MONDO:mim2gene_medgen"} ! MSN @@ -233259,7 +233589,7 @@ xref: MEDGEN:934778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C187989 {source="MONDO:equivalentTo"} xref: OMIM:300989 {source="MONDO:equivalentTo"} xref: UMLS:C4310811 {source="MEDGEN:934778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111861", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1044 {source="MONDO:mim2gene_medgen"} ! BGN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -233302,7 +233632,7 @@ xref: GARD:15280 {source="MONDO:GARD"} xref: MEDGEN:1393107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300991 {source="MONDO:equivalentTo"} xref: UMLS:C4478372 {source="MEDGEN:1393107", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016575 {source="DC-OMIM:300991", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DC-OMIM:300991", source="DOID:0111850", source="MONDO:Redundant", source="OMIM:300991"} ! primary ciliary dyskinesia intersection_of: MONDO:0016575 ! primary ciliary dyskinesia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 ! DNAAF6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28570 {source="MONDO:mim2gene_medgen"} ! DNAAF6 @@ -233447,7 +233777,7 @@ xref: Orphanet:88917 {source="MONDO:equivalentTo", source="DOID:0110034", source xref: SCTID:717768004 {source="MONDO:equivalentTo"} xref: UMLS:C4746986 {source="MEDGEN:1648433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000425 {source="MONDO:Redundant"} ! X-linked disease -is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="Orphanet:88917"} ! Alport syndrome +is_a: MONDO:0018965 {source="DC-OMIM:301050", source="DOID:0110034", source="MONDO:Redundant", source="OMIM:301050", source="Orphanet:88917"} ! Alport syndrome intersection_of: MONDO:0018965 ! Alport syndrome intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_characteristic HP:0001417 {source="MONDO:HPOA", source="OMIM:301050"} ! X-linked inheritance @@ -233749,7 +234079,7 @@ xref: OMIM:301790 {source="Orphanet:85297/e", source="MONDO:equivalentTo", sourc xref: Orphanet:85297 {source="OMIM:301790", source="MONDO:equivalentTo"} xref: SCTID:719817002 {source="MONDO:equivalentTo"} xref: UMLS:C1844936 {source="MEDGEN:337124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016612 {source="Orphanet:85297"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0111831", source="Orphanet:85297"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85297", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3" xsd:anyURI {source="GARD:0009981"} @@ -233819,7 +234149,7 @@ xref: OMIM:301830 {source="Orphanet:1145", source="MONDO:equivalentTo", source=" xref: Orphanet:1145 {source="MONDO:equivalentTo", source="OMIM:301830"} xref: SCTID:719836007 {source="MONDO:equivalentTo"} xref: UMLS:C1844934 {source="MEDGEN:337123", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001516 {source="DC-OMIM:301830"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DC-OMIM:301830", source="DOID:0111827"} ! spinal muscular atrophy is_a: MONDO:0015168 {source="Orphanet:1145"} ! arthrogryposis multiplex congenita relationship: has_characteristic HP:0003593 ! Infantile onset relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12469 {source="MONDO:mim2gene_medgen"} ! UBA1 @@ -233899,7 +234229,7 @@ xref: OMIM:301840 {source="Orphanet:85292/e", source="MONDO:equivalentTo", sourc xref: Orphanet:85292 {source="MONDO:equivalentTo", source="OMIM:301840"} xref: SCTID:719818007 {source="MONDO:equivalentTo"} xref: UMLS:C1844933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337122"} -is_a: MONDO:0016612 {source="Orphanet:85292"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0111832", source="Orphanet:85292"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:85292", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4" xsd:anyURI {source="GARD:0009980"} @@ -233995,7 +234325,7 @@ xref: Orphanet:127 {source="MONDO:equivalentTo", source="OMIM:301900", source="D xref: SCTID:21634003 {source="MONDO:equivalentTo", source="DOID:0050681"} xref: UMLS:C0265339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78557"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0050681", source="OMIM:301900", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015653 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! monogenic epilepsy relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:127", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity @@ -234208,7 +234538,7 @@ is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder is_a: MONDO:0009637 {source="Orphanet:111"} ! inborn mitochondrial myopathy is_a: MONDO:0015134 {source="MONDO:0018032-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! constitutional neutropenia is_a: MONDO:0016333 ! familial dilated cardiomyopathy -is_a: MONDO:0017359 {source="DC-OMIM:302060", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111"} ! 3-methylglutaconic aciduria +is_a: MONDO:0017359 {source="DC-OMIM:302060", source="DOID:0050476", source="NCIT:C84585", source="OMIM:302060", source="Orphanet:111"} ! 3-methylglutaconic aciduria is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11577 {source="MONDO:mim2gene_medgen"} ! TAFAZZIN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -234323,7 +234653,7 @@ xref: MESH:C563134 {source="MONDO:equivalentTo"} xref: OMIM:302500 {source="Orphanet:1175", source="MONDO:equivalentTo", source="Orphanet:1175/e"} xref: Orphanet:1175 {source="MONDO:equivalentTo", source="OMIM:302500"} xref: UMLS:C0796205 {source="MEDGEN:163229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016612 {source="Orphanet:1175"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0111829", source="Orphanet:1175"} ! X-linked cerebellar ataxia relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1175", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -234345,7 +234675,7 @@ xref: MEDGEN:375535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537314 {source="MONDO:equivalentTo"} xref: OMIM:302600 {source="MONDO:equivalentTo"} xref: UMLS:C1844885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375535"} -is_a: MONDO:0016612 {source="https://orcid.org/0000-0002-6601-2165"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0111830", source="https://orcid.org/0000-0002-6601-2165"} ! X-linked cerebellar ataxia [Term] id: MONDO:0010549 @@ -234508,7 +234838,7 @@ xref: OMIM:302905 {source="Orphanet:921", source="MONDO:equivalentTo", source="O xref: Orphanet:921 {source="OMIM:302905", source="MONDO:equivalentTo"} xref: SCTID:718574003 {source="MONDO:equivalentTo"} xref: UMLS:C1844862 {source="MEDGEN:375529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111826", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:921"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -234740,7 +235070,7 @@ xref: Orphanet:324601 {source="OMIM:303400", source="MONDO:equivalentTo", source xref: SCTID:766761000 {source="MONDO:equivalentTo"} xref: UMLS:C1844830 {source="MEDGEN:375520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C536426/inferred"} ! hereditary disease -is_a: MONDO:0016064 {source="DC-OMIM:303400", source="MESH:C536426"} ! cleft palate +is_a: MONDO:0016064 {source="DC-OMIM:303400", source="DOID:0060613", source="MESH:C536426"} ! cleft palate relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11600 {source="MONDO:mim2gene_medgen"} ! TBX22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked" xsd:anyURI {source="GARD:0001394"} @@ -234870,6 +235200,7 @@ xref: SCTID:24704003 {source="MONDO:equivalentTo"} xref: UMLS:C0339537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87386"} is_a: MONDO:0015993 ! cone-rod dystrophy is_a: MONDO:0018852 {source="DOID:0050679"} ! achromatopsia +is_a: MONDO:0020605 {source="DOID:0050679"} ! X-linked recessive disease relationship: has_characteristic HP:0001419 ! X-linked recessive inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism" xsd:anyURI {source="GARD:0000917"} @@ -234930,7 +235261,7 @@ xref: OMIM:303900 {source="DOID:13910", source="MONDO:equivalentTo"} xref: Orphanet:319691 {source="MONDO:equivalentObsolete", source="OMIM:303900"} xref: SCTID:51445007 {source="DOID:13910", source="MONDO:equivalentTo", source="EFO:0005580"} xref: UMLS:C0155015 {source="MONDO:equivalentTo", source="MEDGEN:56350", source="MONDO:MEDGEN"} -is_a: MONDO:0001703 {source="https://orcid.org/0000-0002-6601-2165"} ! color vision disorder +is_a: MONDO:0001703 {source="DOID:13910", source="https://orcid.org/0000-0002-6601-2165"} ! color vision disorder is_a: MONDO:0005328 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred"} ! eye disorder relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9936 {source="MONDO:mim2gene_medgen"} ! OPN1LW @@ -235082,7 +235413,7 @@ xref: OMIM:304110 {source="DOID:14737", source="Orphanet:1520", source="MONDO:eq xref: Orphanet:1520 {source="OMIM:304110", source="MONDO:equivalentTo"} xref: SCTID:715421009 {source="MONDO:equivalentTo"} xref: UMLS:C0220767 {source="MONDO:equivalentTo", source="MEDGEN:65095", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14737", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy @@ -235260,7 +235591,7 @@ xref: Orphanet:85335 {source="DOID:0060800", source="MONDO:directSiblingOf", sou xref: SCTID:719139003 {source="MONDO:equivalentTo"} xref: UMLS:C0796254 {source="MEDGEN:162924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124839"} ! syndromic disease -is_a: MONDO:0015159 {source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0015159 {source="Orphanet:1568", source="Orphanet:85329"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020022 ! central nervous system malformation is_a: MONDO:0020119 {source="DC-OMIM:304340", source="DOID:0060800", source="OMIM:304340", source="Orphanet:1568", source="Orphanet:85329", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:1568", source="Orphanet:1568/inferred"} ! disorder of development or morphogenesis @@ -235367,7 +235698,7 @@ xref: SCTID:68467004 {source="DOID:10003"} xref: UMLS:C1844678 {source="MEDGEN:336750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002467 {source="DOID:10003"} ! inner ear disorder is_a: MONDO:0016297 {source="MONDO:Redundant", source="Orphanet:383"} ! prelingual non-syndromic genetic hearing loss -is_a: MONDO:0019586 {source="DC-OMIM:304400", source="OMIM:304400"} ! X-linked nonsyndromic hearing loss +is_a: MONDO:0019586 {source="DC-OMIM:304400", source="DOID:0111737", source="OMIM:304400"} ! X-linked nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -235388,7 +235719,7 @@ xref: MESH:C564433 {source="MONDO:equivalentTo"} xref: OMIM:304500 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:304500"} xref: UMLS:C1844677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336749"} -is_a: MONDO:0019586 {source="DC-OMIM:304500", source="OMIM:304500"} ! X-linked nonsyndromic hearing loss +is_a: MONDO:0019586 {source="DC-OMIM:304500", source="DOID:0111739", source="OMIM:304500"} ! X-linked nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -235549,7 +235880,7 @@ xref: OMIM:304800 {source="MONDO:equivalentTo"} xref: Orphanet:223 {source="OMIM:304800"} xref: UMLS:C1563705 {source="MEDGEN:288785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004782 {source="DC-OMIM:304800", source="MONDO:Redundant", source="MONDO:indirect"} ! diabetes insipidus -is_a: MONDO:0016383 {source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus +is_a: MONDO:0016383 {source="DOID:0081060", source="Orphanet:223/btnt"} ! nephrogenic diabetes insipidus relationship: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/897 {source="MONDO:mim2gene_medgen"} ! AVPR2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -235655,7 +235986,7 @@ xref: Orphanet:181 {source="OMIM:305100", source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="OMIM:305100"} xref: SCTID:239007005 {source="MONDO:equivalentTo"} xref: UMLS:C0162359 {source="MONDO:equivalentTo", source="MEDGEN:57890", source="MONDO:MEDGEN"} -is_a: MONDO:0016535 {source="MONDO:Redundant", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia +is_a: MONDO:0016535 {source="DOID:0111664", source="MONDO:Redundant", source="Orphanet:181"} ! hypohidrotic ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:0010585/inferred", source="MONDO:Redundant", source="OMIM:305100", source="Orphanet:181/inferred"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0016535 ! hypohidrotic ectodermal dysplasia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -235735,7 +236066,8 @@ xref: MESH:C564428 {source="MONDO:equivalentTo"} xref: OMIM:305390 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:305390"} xref: UMLS:C1844579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337030"} -is_a: MONDO:0019516 {source="DC-OMIM:305390", source="MONDO:Redundant", source="OMIM:305390"} ! exudative vitreoretinopathy +is_a: MONDO:0000425 {source="DOID:0111413"} ! X-linked disease +is_a: MONDO:0019516 {source="DC-OMIM:305390", source="DOID:0111413", source="MONDO:Redundant", source="OMIM:305390"} ! exudative vitreoretinopathy intersection_of: MONDO:0019516 ! exudative vitreoretinopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7678 ! NDP relationship: has_characteristic HP:0001417 ! X-linked inheritance @@ -235786,7 +236118,7 @@ xref: UMLS:C0175701 {source="MEDGEN:61234", source="MONDO:equivalentTo", source= is_a: MONDO:0000425 {source="MESH:C535331", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0002010 {source="OMIM:305400"} ! FG syndrome is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129720"} ! syndromic disease -is_a: MONDO:0021005 ! faciodigitogenital syndrome +is_a: MONDO:0021005 {source="DOID:6683"} ! faciodigitogenital syndrome relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:305400", source="Orphanet:915", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability @@ -235822,7 +236154,7 @@ xref: OMIM:305450 {source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:305450"} xref: Orphanet:93932 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: UMLS:C5399762 {source="MEDGEN:1768809", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002010 {source="DC-OMIM:305450", source="MONDO:Redundant"} ! FG syndrome +is_a: MONDO:0002010 {source="DC-OMIM:305450", source="MONDO:Redundant", source="OMIM:305450"} ! FG syndrome is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability is_a: MONDO:0100000 {source="MONDO:Redundant"} ! MED12-related intellectual disability syndrome intersection_of: MONDO:0002010 ! FG syndrome @@ -236074,7 +236406,7 @@ xref: OMIM:138990 {source="MONDO:equivalentObsolete"} xref: OMIM:306400 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: Orphanet:379 {source="OMIM:306400"} xref: UMLS:C1844376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336165"} -is_a: MONDO:0018305 {source="DC-OMIM:138990", source="DC-OMIM:306400", source="MESH:C564210", source="OMIM:306400"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DC-OMIM:138990", source="DC-OMIM:306400", source="DOID:0070195", source="MESH:C564210", source="OMIM:306400"} ! chronic granulomatous disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2578 {source="MONDO:mim2gene_medgen"} ! CYBB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3797" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -236247,7 +236579,7 @@ xref: MESH:C564413 {source="MONDO:equivalentTo"} xref: OMIM:306950 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:306950"} xref: UMLS:C1844025 {source="MEDGEN:334881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005711 {source="Orphanet:2140/btnt"} ! congenital diaphragmatic hernia +is_a: MONDO:0005711 {source="OMIM:306950", source="Orphanet:2140/btnt"} ! congenital diaphragmatic hernia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -236364,7 +236696,7 @@ xref: Orphanet:275543 {source="OMIM:307000"} xref: SCTID:71779008 {source="MONDO:equivalentTo"} xref: UMLS:C0265216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75552"} is_a: MONDO:0001150 {source="DC-OMIM:307000"} ! hydrocephalus -is_a: MONDO:0016349 ! congenital hydrocephalus +is_a: MONDO:0016349 {source="OMIM:307000"} ! congenital hydrocephalus is_a: MONDO:0017140 {source="Orphanet:2182", source="https://www.ncbi.nlm.nih.gov/books/NBK1484/"} ! L1 syndrome relationship: disease_arises_from_feature HP:0002410 ! Aqueductal stenosis relationship: has_characteristic HP:0001417 ! X-linked inheritance @@ -236425,6 +236757,7 @@ xref: Orphanet:408 {source="DOID:0060363", source="OMIM:307030"} xref: SCTID:124322002 {source="MONDO:equivalentTo"} xref: SCTID:297256008 {source="DOID:0060363"} xref: UMLS:C0268418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82803"} +is_a: MONDO:0019052 {source="DOID:0060363"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0004370 ! glycerol kinase activity relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4289 {source="MONDO:mim2gene_medgen"} ! GK @@ -236508,7 +236841,7 @@ xref: Orphanet:631 {source="OMIM:307200"} xref: Orphanet:632 {source="OMIM:307200"} xref: SCTID:234533006 {source="MONDO:equivalentTo"} xref: UMLS:C0472813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141630"} -is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000050 {source="DC-OMIM:307200", source="DOID:0060875", source="OMIM:307200", source="Orphanet:231692"} ! isolated congenital growth hormone deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1133 {source="MONDO:mim2gene_medgen"} ! BTK property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3" xsd:anyURI {source="GARD:0003921"} @@ -236618,6 +236951,7 @@ xref: UMLS:C0733682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000044 {source="DC-OMIM:307800", source="MONDO:Redundant", source="OMIM:307800", source="Orphanet:89936"} ! hereditary hypophosphatemic rickets is_a: MONDO:0003847 {source="MESH:D053098/inferred", source="MONDO:Redundant", source="NCIT:C123265", source="Orphanet:89936/inferred"} ! hereditary disease is_a: MONDO:0005520 {source="DOID:0050445", source="MESH:D053098/inferred", source="MONDO:Redundant"} ! rickets +is_a: MONDO:0020604 {source="DOID:0050445"} ! X-linked dominant disease is_a: MONDO:0024300 {source="MESH:D053098", source="MONDO:0010619/inferred", source="MONDO:Redundant"} ! hypophosphatemic rickets is_a: MONDO:0800096 {source="PMID:31633310"} ! abnormal mineralization disorder intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets @@ -236738,6 +237072,7 @@ xref: SCTID:72523005 {source="DOID:1700"} xref: UMLS:C0079588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:86937"} is_a: MONDO:0000425 {source="DOID:1700", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0015947 {source="PMID:20643494"} ! inherited ichthyosis +is_a: MONDO:0020605 {source="DOID:1700"} ! X-linked recessive disease relationship: disease_has_basis_in_disruption_of GO:0004773 ! steryl-sulfatase activity relationship: disease_has_basis_in_disruption_of GO:0016125 ! sterol metabolic process relationship: excluded_subClassOf MONDO:0015947 {source="Orphanet:461-generalized-by-cjm", source="Orphanet:461/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49", source="https://orcid.org/0000-0001-5208-3432"} ! inherited ichthyosis @@ -236832,6 +237167,7 @@ xref: Orphanet:101088 {source="MONDO:equivalentTo", source="OMIM:308230", source xref: Orphanet:183663 {source="OMIM:308230"} xref: SCTID:403835002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: UMLS:C0398689 {source="MEDGEN:96019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003947 {source="DOID:6620", source="OMIM:308230"} ! hyper-IgM syndrome is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C61244"} ! immunodeficiency disease intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -236988,7 +237324,7 @@ xref: MEDGEN:483052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:308350 {source="MONDO:equivalentTo"} xref: UMLS:C3463992 {source="MEDGEN:483052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:308350", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:308350", source="DOID:0080468", source="MONDO:Redundant", source="OMIM:308350"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 ! ARX relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX @@ -237091,7 +237427,7 @@ xref: MESH:C536159 {source="MONDO:equivalentTo"} xref: OMIM:308800 {source="MONDO:equivalentTo"} xref: Orphanet:2340 {source="OMIM:308800"} xref: UMLS:C3887525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854384"} -is_a: MONDO:0000136 {source="DC-OMIM:308800"} ! keratosis follicularis spinulosa decalvans +is_a: MONDO:0000136 {source="DC-OMIM:308800", source="DOID:0080754"} ! keratosis follicularis spinulosa decalvans property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -237312,7 +237648,7 @@ xref: OMIM:309000 {source="DOID:1056", source="Orphanet:534", source="MONDO:equi xref: Orphanet:534 {source="MONDO:equivalentTo", source="OMIM:309000"} xref: SCTID:79385002 {source="DOID:1056", source="MONDO:equivalentTo"} xref: UMLS:C0028860 {source="MEDGEN:18145", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84940"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1056", source="MONDO:Redundant", source="NCIT:C84940"} ! syndromic disease is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0005328 {source="MONDO:0020222-obsoleted"} ! eye disorder is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease @@ -237354,7 +237690,7 @@ xref: MEDGEN:374322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:309120 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:309120"} xref: UMLS:C1839841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374322"} -is_a: MONDO:0004983 {source="DC-OMIM:309120", source="MONDO:Redundant", source="OMIM:309120"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:309120", source="DOID:0070185", source="MONDO:Redundant", source="OMIM:309120"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11733 ! TEX11 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11733 ! TEX11 @@ -237440,7 +237776,7 @@ xref: OMIM:309350 {source="Orphanet:2484", source="MONDO:equivalentTo", source=" xref: Orphanet:2484 {source="MONDO:equivalentTo", source="OMIM:309350"} xref: SCTID:13449007 {source="MONDO:equivalentTo"} xref: UMLS:C0025237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6292"} -is_a: MONDO:0018233 {source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder +is_a: MONDO:0018233 {source="DOID:0111788", source="Orphanet:2484"} ! otopalatodigital syndrome spectrum disorder is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0005328 {source="MONDO:0020222-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0015161 {source="Orphanet:2484", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -237594,7 +237930,7 @@ xref: Orphanet:3242 {source="OMIM:309500", source="DOID:0060179", source="MONDO: xref: SCTID:699669001 {source="MONDO:equivalentTo"} xref: UMLS:C0796135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208670"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060179", source="OMIM:309500", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: disease_has_feature HP:0000252 ! Microcephaly relationship: disease_has_feature HP:0000275 ! Narrow face relationship: disease_has_feature HP:0001249 ! Intellectual disability @@ -237641,7 +237977,7 @@ xref: OMIM:309510 {source="Orphanet:94083/e", source="MONDO:equivalentTo", sourc xref: Orphanet:94083 {source="MONDO:equivalentTo", source="DOID:14744", source="OMIM:309510"} xref: UMLS:C0796250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163237"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system disorder -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:14744", source="OMIM:309510", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309510", source="DOID:14744", source="OMIM:309510", source="Orphanet:94083", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18060 {source="MONDO:mim2gene_medgen"} ! ARX @@ -237719,7 +238055,7 @@ xref: NCIT:C133729 {source="MONDO:equivalentTo"} xref: OMIM:309530 {source="MONDO:equivalentTo"} xref: Orphanet:397933 {source="MONDO:equivalentTo"} xref: UMLS:C2931498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444070"} -is_a: MONDO:0019181 {source="DC-OMIM:300551", source="DC-OMIM:309530", source="OMIM:309530"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:300551", source="DC-OMIM:309530", source="DOID:0112038", source="OMIM:309530"} ! non-syndromic X-linked intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:397933", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29059 {source="MONDO:mim2gene_medgen"} ! IQSEC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -237748,7 +238084,7 @@ xref: MESH:C563136 {source="MONDO:equivalentTo"} xref: OMIM:309541 {source="Orphanet:369962", source="MONDO:equivalentTo", source="Orphanet:369962/e"} xref: Orphanet:369962 {source="MONDO:equivalentTo", source="OMIM:309541"} xref: UMLS:C0796208 {source="MEDGEN:167111", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016826 {source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria +is_a: MONDO:0016826 {source="OMIM:309541", source="Orphanet:369962"} ! methylmalonic aciduria and homocystinuria is_a: MONDO:0019181 {source="DC-OMIM:309541", source="OMIM:309541"} ! non-syndromic X-linked intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4839 {source="MONDO:mim2gene_medgen"} ! HCFC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -237810,7 +238146,7 @@ xref: OMIM:309548 {source="GARD:0002378", source="MONDO:equivalentTo", source="O xref: Orphanet:100973 {source="GARD:0002378", source="OMIM:309548", source="MONDO:equivalentTo"} xref: SCTID:716709002 {source="MONDO:equivalentTo"} xref: UMLS:C0751157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155512"} -is_a: MONDO:0019181 {source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="OMIM:309548", source="https://orcid.org/0000-0001-5208-3432"} ! non-syndromic X-linked intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309548", source="Orphanet:100973", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3776 {source="MONDO:mim2gene_medgen"} ! AFF2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -237841,7 +238177,7 @@ xref: MESH:C563137 {source="MONDO:equivalentTo"} xref: OMIM:309549 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:309549"} xref: UMLS:C0796215 {source="MEDGEN:167112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="DC-OMIM:309549", source="MONDO:Redundant", source="OMIM:309549"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DC-OMIM:309549", source="DOID:0112034", source="MONDO:Redundant", source="OMIM:309549"} ! non-syndromic X-linked intellectual disability intersection_of: MONDO:0019181 ! non-syndromic X-linked intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 ! FTSJ1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13254 {source="MONDO:mim2gene_medgen"} ! FTSJ1 @@ -237873,7 +238209,7 @@ xref: OMIM:309555 {source="Orphanet:3078", source="MONDO:equivalentTo", source=" xref: Orphanet:3078 {source="OMIM:309555", source="MONDO:equivalentTo"} xref: SCTID:722213009 {source="MONDO:equivalentTo"} xref: UMLS:C0795965 {source="MEDGEN:167088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020119 {source="Orphanet:3078", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0081123", source="OMIM:309555", source="Orphanet:3078", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -238047,7 +238383,7 @@ xref: Orphanet:3459 {source="MONDO:equivalentTo", source="OMIM:309585", source=" xref: SCTID:719834005 {source="MONDO:equivalentTo"} xref: UMLS:C1839736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333393"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060814", source="OMIM:309585", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0016565 {source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic obesity relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309585", source="DOID:0060814", source="OMIM:309585", source="Orphanet:3459", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25726 {source="MONDO:mim2gene_medgen"} ! LAS1L @@ -238094,7 +238430,7 @@ xref: Orphanet:2958 {source="OMIM:309610", source="MONDO:equivalentTo", source=" xref: SCTID:719140001 {source="MONDO:equivalentTo"} xref: UMLS:C1839730 {source="MEDGEN:374294", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060805", source="OMIM:309610", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="DC-OMIM:309610", source="DOID:0060805", source="OMIM:309610", source="Orphanet:2958", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -238217,7 +238553,7 @@ xref: Orphanet:85275 {source="MONDO:equivalentTo", source="GARD:0005066", source xref: SCTID:438504004 {source="MONDO:equivalentTo"} xref: SCTID:717222003 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C0796016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162898"} -is_a: MONDO:0016073 {source="DC-OMIM:301590", source="MONDO:0010671/inferred", source="MONDO:Redundant", source="OMIM:301590", source="OMIM:309800", source="Orphanet:85275"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:301590", source="DOID:0111799", source="MONDO:0010671/inferred", source="MONDO:Redundant", source="OMIM:301590", source="OMIM:309800", source="Orphanet:85275"} ! syndromic microphthalmia is_a: MONDO:0100124 {source="https://clinicalgenome.org/affiliation/40006/"} ! NAA10-related syndrome relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85275", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0018924 {source="Orphanet:568/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! microphthalmia, Lenz type @@ -238333,7 +238669,7 @@ xref: SCTID:70737009 {source="DOID:12799", source="MONDO:equivalentTo"} xref: UMLS:C0026705 {source="MONDO:equivalentTo", source="MEDGEN:7734", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61260"} ! syndromic disease is_a: MONDO:0019249 {source="DOID:12799", source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580"} ! mucopolysaccharidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:580", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004423 ! iduronate-2-sulfatase activity relationship: excluded_subClassOf MONDO:0015920 {source="Orphanet:580", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic neurometabolic disease with X-linked intellectual disability @@ -238525,7 +238861,7 @@ xref: OMIM:310400 {source="Orphanet:596/e", source="MONDO:equivalentTo", source= xref: Orphanet:596 {source="MONDO:equivalentTo", source="OMIM:310400"} xref: SCTID:46804001 {source="MONDO:equivalentTo"} xref: UMLS:C0410203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98374"} -is_a: MONDO:0018947 {source="DC-OMIM:310400", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596"} ! centronuclear myopathy +is_a: MONDO:0018947 {source="DC-OMIM:310400", source="DOID:0111225", source="MONDO:Redundant", source="OMIM:310400", source="Orphanet:596"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: excluded_subClassOf MONDO:0002921 {source="NCIT:C118781", source="OMIM:310400", source="https://orcid.org/0000-0001-5208-3432"} ! congenital structural myopathy @@ -238819,7 +239155,7 @@ xref: MESH:C537853 {source="MONDO:equivalentTo"} xref: OMIM:310700 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:310700"} xref: UMLS:C1839580 {source="MEDGEN:333352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005712 {source="DC-OMIM:310700", source="MONDO:Redundant", source="OMIM:310700"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:310700", source="DOID:0111790", source="MONDO:Redundant", source="OMIM:310700"} ! congenital nystagmus intersection_of: MONDO:0005712 ! congenital nystagmus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 ! FRMD7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8079 {source="MONDO:mim2gene_medgen"} ! FRMD7 @@ -239141,7 +239477,7 @@ xref: Orphanet:619 {source="OMIM:311360"} xref: Orphanet:642691 {source="MONDO:equivalentTo"} xref: UMLS:C4552079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644269"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019852 {source="DC-OMIM:311360", source="OMIM:311360"} ! inherited primary ovarian failure +is_a: MONDO:0019852 {source="DC-OMIM:311360", source="OMIM:311360", source="Orphanet:642691"} ! inherited primary ovarian failure intersection_of: MONDO:0019852 ! inherited primary ovarian failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 ! FRAXA relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3945 {source="MONDO:mim2gene_medgen", source="https://www.fragilex.org.uk/"} ! FRAXA @@ -239319,7 +239655,7 @@ xref: OMIM:312000 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="OMIM:312000"} xref: SCTID:237683004 {source="MONDO:equivalentTo"} xref: UMLS:C0342376 {source="MEDGEN:87439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019591 {source="Orphanet:90695/btnt"} ! panhypopituitarism +is_a: MONDO:0019591 {source="DOID:0111779", source="Orphanet:90695/btnt"} ! panhypopituitarism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11199 {source="MONDO:mim2gene_medgen"} ! SOX3 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked" xsd:anyURI {source="GARD:0006737"} @@ -239559,7 +239895,7 @@ xref: Orphanet:90797 {source="MONDO:equivalentTo", source="OMIM:312300"} xref: SCTID:122811000119101 {source="MONDO:equivalentTo"} xref: UMLS:C0268301 {source="MEDGEN:82785", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:C538435/inferred"} ! hereditary disease -is_a: MONDO:0019154 {source="NCIT:C120192", source="Orphanet:90797"} ! androgen insensitivity syndrome +is_a: MONDO:0019154 {source="DOID:0080776", source="NCIT:C120192", source="Orphanet:90797"} ! androgen insensitivity syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/644 {source="MONDO:mim2gene_medgen"} ! AR property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0005692"} @@ -239720,7 +240056,7 @@ xref: Orphanet:778 {source="OMIM:312750", source="MONDO:equivalentTo"} xref: SCTID:192583003 {source="DOID:1206"} xref: SCTID:68618008 {source="MONDO:equivalentTo", source="DOID:1206"} xref: UMLS:C0035372 {source="MONDO:equivalentTo", source="MEDGEN:48441", source="MONDO:MEDGEN"} -is_a: MONDO:0000594 {source="Orphanet:778"} ! pervasive developmental disorder +is_a: MONDO:0000594 {source="DOID:1206", source="Orphanet:778"} ! pervasive developmental disorder is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75488"} ! syndromic disease is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: disease_has_feature MONDO:0005260 {source="NCIT:C88412"} ! autism @@ -240052,7 +240388,7 @@ xref: OMIM:313400 {source="MONDO:equivalentTo"} xref: Orphanet:93284 {source="OMIM:313400"} xref: UMLS:C3541456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:762085"} is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia -is_a: MONDO:0019667 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="DOID:0080362", source="Orphanet:93284"} ! spondyloepiphyseal dysplasia tarda intersection_of: MONDO:0019667 ! spondyloepiphyseal dysplasia tarda intersection_of: has_characteristic HP:0001417 ! X-linked inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23068 {source="MONDO:mim2gene_medgen"} ! TRAPPC2 @@ -240083,7 +240419,7 @@ xref: MESH:C563124 {source="MONDO:equivalentTo"} xref: OMIM:313420 {source="Orphanet:168544", source="MONDO:equivalentTo", source="Orphanet:168544/e"} xref: Orphanet:168544 {source="OMIM:313420", source="MONDO:equivalentTo"} xref: UMLS:C0796172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:208672"} -is_a: MONDO:0016763 {source="DC-OMIM:313420", source="Orphanet:168544"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:313420", source="OMIM:313420", source="Orphanet:168544"} ! spondylometaphyseal dysplasia [Term] id: MONDO:0010739 @@ -240201,7 +240537,7 @@ xref: OMIM:313900 {source="Orphanet:852", source="MONDO:equivalentTo", source="O xref: Orphanet:268322 {source="OMIM:313900"} xref: Orphanet:852 {source="MONDO:equivalentTo", source="OMIM:313900"} xref: UMLS:C1839163 {source="MEDGEN:326416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100241 {source="DC-OMIM:313900", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia +is_a: MONDO:0100241 {source="DC-OMIM:313900", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:313900"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 ! WAS relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12731 {source="MONDO:mim2gene_medgen"} ! WAS @@ -240423,7 +240759,7 @@ xref: MEDGEN:419019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:314390 {source="MONDO:equivalentTo"} xref: Orphanet:3412 {source="OMIM:314390"} xref: UMLS:C2931228 {source="MEDGEN:419019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008642 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! VACTERL/vater association +is_a: MONDO:0008642 {source="DOID:0111766", source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! VACTERL/vater association is_a: MONDO:0010172 {source="Orphanet:3412/btnt"} ! VACTERL with hydrocephalus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -240567,7 +240903,7 @@ xref: Orphanet:85283 {source="MONDO:equivalentTo", source="OMIM:309605", source= xref: SCTID:719012009 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: SCTID:722456001 {source="MONDO:equivalentTo"} xref: UMLS:C0796200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163227"} -is_a: MONDO:0025445 ! Wieacker-Wolff syndrome (spectrum) +is_a: MONDO:0025445 {source="OMIM:314580"} ! Wieacker-Wolff syndrome (spectrum) is_a: MONDO:0700092 {source="https://orcid.org/0000-0002-4142-7153"} ! neurodevelopmental disorder relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:85283", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0015168 {source="Orphanet:3454", source="https://orcid.org/0000-0001-5208-3432"} ! arthrogryposis multiplex congenita @@ -240640,6 +240976,7 @@ xref: MESH:C564035 {source="MONDO:equivalentTo"} xref: OMIM:400004 {source="MONDO:equivalentTo", source="DOID:0110418"} xref: Orphanet:791 {source="OMIM:400004"} xref: UMLS:C1839079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326805"} +is_a: MONDO:0000428 {source="DOID:0110418"} ! Y-linked disease is_a: MONDO:0019200 {source="DC-OMIM:400004", source="DOID:0110418", source="MESH:C564035", source="MONDO:Redundant", source="OMIM:400004"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance @@ -240681,7 +241018,7 @@ xref: OMIM:400042 {source="MONDO:equivalentTo"} xref: Orphanet:1646 {source="OMIM:400042"} xref: UMLS:C4551960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634798"} is_a: MONDO:0004983 {source="MONDO:Redundant", source="OMIM:400042"} ! spermatogenic failure -is_a: MONDO:0010595 ! Sertoli cell-only syndrome +is_a: MONDO:0010595 {source="DOID:0070186"} ! Sertoli cell-only syndrome is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -240699,7 +241036,7 @@ xref: MEDGEN:854748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:400043 {source="MONDO:equivalentTo"} xref: UMLS:C3888076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854748"} is_a: MONDO:0019497 ! nonsyndromic genetic hearing loss -is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked +is_a: MONDO:0033304 {source="DOID:0111759", source="OMIM:400043"} ! nonsyndromic deafness, Y-linked relationship: has_characteristic HP:0001450 ! Y-linked inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -240782,7 +241119,7 @@ xref: MESH:C564030 {source="MONDO:equivalentTo"} xref: OMIM:415000 {source="MONDO:equivalentTo"} xref: Orphanet:1646 {source="OMIM:415000"} xref: UMLS:C1839071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:326394"} -is_a: MONDO:0004983 {source="DC-OMIM:415000", source="OMIM:415000"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:415000", source="DOID:0070187", source="OMIM:415000"} ! spermatogenic failure is_a: MONDO:0015607 {source="Orphanet:1646/btnt"} ! partial chromosome Y deletion property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -240897,7 +241234,7 @@ xref: OMIM:500001 {source="MONDO:equivalentTo"} xref: Orphanet:99718 {source="OMIM:500001"} xref: UMLS:C1839040 {source="MEDGEN:333240", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010788 {source="MESH:C536024"} ! Leber hereditary optic neuropathy -is_a: MONDO:0020478 {source="Orphanet:99718/btnt"} ! Leber plus disease +is_a: MONDO:0020478 {source="DOID:0111755", source="Orphanet:99718/btnt"} ! Leber plus disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -241094,7 +241431,7 @@ xref: MEDGEN:903059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:500011 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:500011"} xref: UMLS:C4225415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903059"} -is_a: MONDO:0000863 {source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia +is_a: MONDO:0000863 {source="DOID:0111184", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: MONDO:0010783 @@ -241588,7 +241925,7 @@ xref: MESH:C564012 {source="MONDO:equivalentTo"} xref: OMIM:598500 {source="MONDO:equivalentTo"} xref: Orphanet:3463 {source="OMIM:598500"} xref: UMLS:C1838782 {source="MEDGEN:325511", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018105 {source="DC-OMIM:598500"} ! Wolfram syndrome +is_a: MONDO:0018105 {source="DC-OMIM:598500", source="DOID:0080583"} ! Wolfram syndrome [Term] id: MONDO:0010801 @@ -241642,7 +241979,7 @@ xref: OMIM:600001 {source="Orphanet:2255", source="MONDO:equivalentTo", source=" xref: Orphanet:2255 {source="OMIM:600001", source="MONDO:equivalentTo"} xref: SCTID:722206009 {source="MONDO:equivalentTo"} xref: UMLS:C4012454 {source="MEDGEN:860891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111733", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015888-obsoleted", source="Orphanet:2255", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -241980,7 +242317,7 @@ xref: MESH:C564003 {source="MONDO:equivalentTo"} xref: OMIM:600093 {source="MONDO:equivalentTo"} xref: UMLS:C1838653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325071"} is_a: MONDO:0003847 {source="MESH:C564003/inferred"} ! hereditary disease -is_a: MONDO:0019667 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="DOID:0112289", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia tarda [Term] id: MONDO:0010816 @@ -242011,7 +242348,7 @@ xref: OMIM:600096 {source="DOID:0050740", source="Orphanet:3010/e", source="MOND xref: Orphanet:3010 {source="MONDO:equivalentTo", source="OMIM:600096"} xref: SCTID:721887007 {source="MONDO:equivalentTo"} xref: UMLS:C2931142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443987"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050740", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: disease_has_feature HP:0001252 ! Hypotonia relationship: disease_has_feature HP:0005832 ! Dysharmonic delayed bone age relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3010", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -242136,7 +242473,7 @@ xref: OMIM:600116 {source="MONDO:equivalentTo", source="DOID:0060368"} xref: Orphanet:2828 {source="OMIM:600116"} xref: UMLS:C1868675 {source="MEDGEN:401500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005180 {source="DOID:0060368/inferred", source="MONDO:Redundant", source="OMIM:600116"} ! Parkinson disease -is_a: MONDO:0017279 {source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease +is_a: MONDO:0017279 {source="DOID:0060368", source="MONDO:Redundant", source="Orphanet:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 ! PRKN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8607 {source="MONDO:mim2gene_medgen"} ! PRKN @@ -242608,7 +242945,7 @@ xref: MESH:C563983 {source="MONDO:equivalentTo"} xref: OMIM:600165 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:600165"} xref: UMLS:C1838502 {source="MEDGEN:325037", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005514 {source="DC-OMIM:600165"} ! nanophthalmia +is_a: MONDO:0005514 {source="DC-OMIM:600165", source="OMIM:600165"} ! nanophthalmia is_a: MONDO:0021129 {source="MESH:C563983", source="MONDO:Redundant", source="OMIM:600165", source="Orphanet:35612/btnt"} ! microphthalmia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -242682,7 +243019,7 @@ xref: Orphanet:1216 {source="OMIM:600175", source="MONDO:equivalentTo"} xref: SCTID:763067000 {source="MONDO:equivalentTo"} xref: UMLS:C1838492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373984"} is_a: MONDO:0001516 {source="DC-OMIM:600175", source="MESH:C563981"} ! spinal muscular atrophy -is_a: MONDO:0015362 {source="Orphanet:1216"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111215", source="OMIM:600175", source="Orphanet:1216"} ! neuronopathy, distal hereditary motor, autosomal dominant relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18083 {source="MONDO:mim2gene_medgen"} ! TRPV4 [Term] @@ -242808,7 +243145,7 @@ xref: MESH:C535502 {source="MONDO:equivalentTo"} xref: OMIM:600204 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:600204"} xref: UMLS:C1838429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333092"} -is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="DOID:0070298", source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600204"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2218 ! COL9A2 @@ -242837,7 +243174,7 @@ xref: MESH:C563975 {source="MONDO:equivalentTo"} xref: OMIM:600209 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:600209"} xref: UMLS:C1838420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333090"} -is_a: MONDO:0005508 {source="DC-OMIM:600209"} ! hereditary multiple osteochondromas +is_a: MONDO:0005508 {source="DC-OMIM:600209", source="OMIM:600209"} ! hereditary multiple osteochondromas [Term] id: MONDO:0010847 @@ -243034,7 +243371,7 @@ xref: OMIM:600268 {source="MONDO:equivalentTo", source="Orphanet:3339", source=" xref: Orphanet:3339 {source="OMIM:600268", source="MONDO:equivalentTo"} xref: SCTID:723554006 {source="MONDO:equivalentTo"} xref: UMLS:C1838329 {source="MEDGEN:333068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019287 {source="MESH:C563969", source="Orphanet:3339"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111705", source="MESH:C563969", source="Orphanet:3339"} ! ectodermal dysplasia syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -243613,7 +243950,7 @@ xref: OMIM:600373 {source="MONDO:equivalentTo", source="Orphanet:1458", source=" xref: Orphanet:1458 {source="OMIM:600373", source="MONDO:equivalentTo"} xref: SCTID:717772000 {source="MONDO:equivalentTo"} xref: UMLS:C1838180 {source="MEDGEN:333031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C126744"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111274", source="NCIT:C126744"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:1458"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0016761 {source="Orphanet:1458", source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0021147 {source="Orphanet:1458", source="Orphanet:1458/inferred"} ! disorder of development or morphogenesis @@ -244268,7 +244605,7 @@ xref: MESH:C563469 {source="MONDO:equivalentTo"} xref: OMIM:600624 {source="DOID:0111009", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:600624"} xref: UMLS:C1833564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371596"} -is_a: MONDO:0015993 {source="DC-OMIM:600624", source="DOID:0111009"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:600624", source="DOID:0111009", source="OMIM:600624"} ! cone-rod dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1" xsd:anyURI {source="GARD:0010651"} @@ -244350,7 +244687,7 @@ xref: OMIM:600628 {source="Orphanet:168/e", source="MONDO:equivalentTo", source= xref: Orphanet:168 {source="MONDO:equivalentTo", source="OMIM:600628"} xref: SCTID:238735005 {source="MONDO:equivalentTo"} xref: UMLS:C0406468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98351"} -is_a: MONDO:0004907 {source="MESH:D058247", source="Orphanet:168"} ! alopecia +is_a: MONDO:0004907 {source="DOID:0111702", source="MESH:D058247", source="Orphanet:168"} ! alopecia relationship: disease_disrupts GO:0042640 ! anagen [Term] @@ -244474,7 +244811,7 @@ xref: MESH:C567572 {source="MONDO:equivalentTo"} xref: OMIM:600638 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:600638"} xref: UMLS:C2748801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412638"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:600638", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081017", source="MONDO:Redundant", source="OMIM:600638", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles is_a: MONDO:0100154 {source="https://clinicalgenome.org/affiliation/40006/"} ! TUBB3-related tubulinopathy intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20772 ! TUBB3 @@ -245157,6 +245494,7 @@ xref: SCTID:715577009 {source="MONDO:equivalentTo"} xref: UMLS:C2609268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:760527"} is_a: MONDO:0002155 {source="OMIM:600803"} ! cholecystitis is_a: MONDO:0005281 {source="DC-OMIM:600803", source="MONDO:Redundant", source="OMIM:600803", source="OMIM:600803/inferred"} ! gallbladder disorder +is_a: MONDO:0700225 {source="OMIM:600803"} ! hereditary gallbladder disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 [Term] @@ -245280,7 +245618,7 @@ xref: OMIM:600858 {source="MONDO:equivalentTo", source="DOID:0110312"} xref: Orphanet:155 {source="OMIM:600858"} xref: UMLS:C1833236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331466"} is_a: MONDO:0005045 {source="DC-OMIM:600858", source="DOID:0110312", source="MESH:C563436/inferred", source="MONDO:Redundant", source="OMIM:600858"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C563436", source="MONDO:OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110312", source="MESH:C563436", source="MONDO:OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy is_a: MONDO:0800484 {source="PMID:29298659", source="https://orcid.org/0009-0007-0138-2054", source="https://www.clinicalgenome.org/affiliation/40104/"} ! PRKAG2-related cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9386 ! PRKAG2 @@ -245766,7 +246104,7 @@ xref: MESH:C535503 {source="MONDO:equivalentTo"} xref: OMIM:600969 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:600969"} xref: UMLS:C1832998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322091"} -is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="DOID:0070304", source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:600969"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2219 ! COL9A3 @@ -245919,7 +246257,7 @@ xref: MEDGEN:322083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563415 {source="MONDO:equivalentTo"} xref: OMIM:600977 {source="MONDO:equivalentTo", source="DOID:0111010"} xref: UMLS:C1832976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322083"} -is_a: MONDO:0015993 {source="DC-OMIM:600977", source="DOID:0111010", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:600977", source="DOID:0111010", source="MONDO:Redundant", source="OMIM:600977"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 ! PITPNM3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21043 {source="MONDO:mim2gene_medgen"} ! PITPNM3 @@ -246074,7 +246412,7 @@ xref: MESH:C563408 {source="MONDO:equivalentTo"} xref: OMIM:601001 {source="MONDO:equivalentTo", source="Orphanet:89838", source="Orphanet:89838/e"} xref: Orphanet:89838 {source="OMIM:601001", source="MONDO:equivalentTo"} xref: UMLS:C3715082 {source="MEDGEN:811576", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:601001", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -246148,6 +246486,7 @@ xref: Orphanet:768 {source="OMIM:601005", source="DOID:0060173"} xref: UMLS:C1832916 {source="MEDGEN:331395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0060173", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002442 {source="MESH:C536962", source="MONDO:Redundant", source="NCIT:C142894", source="OMIM:601005"} ! long QT syndrome +is_a: MONDO:0019171 {source="Orphanet:65283"} ! familial long QT syndrome relationship: disease_has_feature HP:0001279 {source="MONDO:Wikidata"} ! Syncope relationship: disease_has_feature HP:0001649 {source="MONDO:Wikidata"} ! Tachycardia relationship: disease_has_feature HP:0001663 {source="MONDO:Wikidata"} ! Ventricular fibrillation @@ -246266,7 +246605,7 @@ xref: OMIM:601067 {source="DOID:0110831", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:601067"} xref: Orphanet:886 {source="OMIM:601067"} xref: UMLS:C1832845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322051"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110831", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110831/inferred", source="MONDO:Redundant", source="OMIM:601067"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:601067"} ! Autosomal recessive inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -246289,7 +246628,7 @@ xref: MESH:C563399 {source="MONDO:equivalentTo"} xref: OMIM:601068 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:601068"} xref: UMLS:C1832841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371424"} -is_a: MONDO:0000160 {source="DC-OMIM:601068", source="OMIM:601068"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DC-OMIM:601068", source="DOID:0111690", source="OMIM:601068"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy [Term] @@ -246414,7 +246753,7 @@ xref: Orphanet:2578 {source="MONDO:equivalentTo", source="OMIM:601076"} xref: Orphanet:3109 {source="OMIM:601076"} xref: SCTID:717705004 {source="MONDO:equivalentTo"} xref: UMLS:C4305568 {source="MEDGEN:931237", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017771 {source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome +is_a: MONDO:0017771 {source="DOID:0112179", source="Orphanet:2578"} ! Mayer-Rokitansky-Kuster-Hauser syndrome relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome [Term] @@ -246463,7 +246802,7 @@ xref: MESH:C563390 {source="MONDO:equivalentTo"} xref: OMIM:601088 {source="MONDO:equivalentTo", source="Orphanet:477668"} xref: Orphanet:477668 {source="MONDO:equivalentObsolete"} xref: UMLS:C1832812 {source="MEDGEN:371416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111688", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:477668"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:477668", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -246605,7 +246944,7 @@ xref: OMIM:601104 {source="Orphanet:240071/e", source="MONDO:equivalentTo", sour xref: Orphanet:240071 {source="OMIM:601104", source="MONDO:equivalentTo"} xref: Orphanet:683 {source="OMIM:601104"} xref: UMLS:C4551863 {source="MEDGEN:1640811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019037 {source="DC-OMIM:601104", source="Orphanet:240071"} ! progressive supranuclear palsy +is_a: MONDO:0019037 {source="DC-OMIM:601104", source="OMIM:601104", source="Orphanet:240071"} ! progressive supranuclear palsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6893 {source="MONDO:mim2gene_medgen"} ! MAPT property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -246650,7 +246989,7 @@ xref: OMIM:601110 {source="Orphanet:79321/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"} xref: SCTID:720976009 {source="MONDO:equivalentTo"} xref: UMLS:C1832736 {source="MONDO:equivalentTo", source="MEDGEN:322026", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:601110"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:601110", source="DOID:0080556", source="OMIM:601110"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535742", source="MONDO:0010998/inferred", source="MONDO:Redundant", source="NCIT:C126870", source="OMIM:601110", source="Orphanet:79321/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -246956,7 +247295,7 @@ xref: UMLS:C1832661 {source="MEDGEN:318679", source="MONDO:equivalentTo", source is_a: MONDO:0005087 {source="MONDO:Redundant", source="Orphanet:2470", source="Orphanet:2470/inferred"} ! respiratory system disorder is_a: MONDO:0015161 {source="Orphanet:2470"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015929 {source="Orphanet:2470"} ! thoracic malformation -is_a: MONDO:0016073 {source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DOID:0111807", source="OMIM:601186", source="Orphanet:2470"} ! syndromic microphthalmia relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2470", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation relationship: has_characteristic MONDO:0021136 {source="MONDO:0015510"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30650 {source="MONDO:mim2gene_medgen"} ! STRA6 @@ -247299,7 +247638,7 @@ xref: MEDGEN:318658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601223 {source="MONDO:equivalentTo"} xref: Orphanet:2978 {source="OMIM:601223"} xref: UMLS:C1832589 {source="MEDGEN:318658", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000858 {source="DC-OMIM:601223"} ! neuronal intestinal dysplasia +is_a: MONDO:0000858 {source="DC-OMIM:601223", source="DOID:0080680"} ! neuronal intestinal dysplasia is_a: MONDO:0017574 {source="Orphanet:2978/btnt"} ! chronic intestinal pseudoobstruction [Term] @@ -247334,7 +247673,7 @@ xref: OMIM:601224 {source="Orphanet:52022/e", source="MONDO:equivalentTo", sourc xref: Orphanet:52022 {source="OMIM:601224", source="MONDO:equivalentTo"} xref: SCTID:702346005 {source="MONDO:equivalentTo"} xref: UMLS:C1832588 {source="MEDGEN:318657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C75456"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111687", source="NCIT:C75456"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:52022"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016893 {source="Orphanet:52022"} ! partial deletion of the short arm of chromosome 11 is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:52022", source="Orphanet:52022/inferred"} ! disorder of development or morphogenesis @@ -247450,7 +247789,7 @@ xref: MESH:C537264 {source="MONDO:equivalentTo"} xref: OMIM:601277 {source="MONDO:equivalentTo", source="DOID:0060712"} xref: Orphanet:313 {source="OMIM:601277"} xref: UMLS:C1832550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371355"} -is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis +is_a: MONDO:0017265 {source="DOID:0060712", source="MONDO:Redundant", source="OMIM:601277"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="MESH:C537264", source="Orphanet:313/btnt"} ! lamellar ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14637 ! ABCA12 @@ -247665,7 +248004,7 @@ xref: Orphanet:638 {source="OMIM:601321", source="MONDO:equivalentTo"} xref: SCTID:715344006 {source="MONDO:equivalentTo"} xref: UMLS:C2931482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419089"} is_a: MONDO:0019755 ! developmental defect during embryogenesis -is_a: MONDO:0021060 {source="Orphanet:textdef", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy +is_a: MONDO:0021060 {source="DOID:0111683", source="Orphanet:textdef", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy is_a: MONDO:0021061 {source="https://orcid.org/0000-0001-6330-7526"} ! neurofibromatosis relationship: excluded_subClassOf MONDO:0019289 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! hyperpigmentation of the skin relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:638", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare skin tumor or hamartoma @@ -247856,7 +248195,7 @@ xref: Orphanet:3434 {source="MONDO:equivalentTo", source="OMIM:601349"} xref: SCTID:715533002 {source="MONDO:equivalentTo"} xref: UMLS:C1832440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330469"} is_a: MONDO:0015159 {source="Orphanet:3434"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0016073 {source="DC-OMIM:601349", source="OMIM:601349", source="Orphanet:3434"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:601349", source="DOID:0111803", source="OMIM:601349", source="Orphanet:3434"} ! syndromic microphthalmia relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:3434", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -248013,7 +248352,7 @@ xref: OMIM:601356 {source="MONDO:equivalentTo"} xref: Orphanet:646136 {xref="MONDO:equivalentTo"} xref: UMLS:C1832435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330467"} is_a: MONDO:0003847 {source="MESH:C537598/inferred"} ! hereditary disease -is_a: MONDO:0016357 {source="https://orcid.org/0000-0001-5208-3432"} ! dysplastic cortical hyperostosis +is_a: MONDO:0016357 {source="Orphanet:646136", source="https://orcid.org/0000-0001-5208-3432"} ! dysplastic cortical hyperostosis is_a: MONDO:0019702 {source="PMID:31633310"} ! neonatal osteosclerotic dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type" xsd:anyURI {source="GARD:0004827"} @@ -248530,7 +248869,7 @@ xref: MEDGEN:1644627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601390 {source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="OMIM:601390"} xref: UMLS:C4551950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644627"} -is_a: MONDO:0017813 {source="DC-OMIM:601390", source="MONDO:Redundant", source="OMIM:601390"} ! van Maldergem syndrome +is_a: MONDO:0017813 {source="DC-OMIM:601390", source="DOID:0080585", source="MONDO:Redundant", source="OMIM:601390"} ! van Maldergem syndrome intersection_of: MONDO:0017813 ! van Maldergem syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 ! DCHS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13681 {source="MONDO:mim2gene_medgen"} ! DCHS1 @@ -248709,9 +249048,9 @@ xref: OMIM:615325 {source="MONDO:equivalentObsolete", source="Orphanet:363543", xref: Orphanet:363543 {source="OMIM:615325", source="MONDO:equivalentObsolete", source="DOID:0110286"} xref: Orphanet:98909 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:601419"} xref: UMLS:C1832370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330449"} -is_a: MONDO:0016187 ! qualitative or quantitative defects of desmin +is_a: MONDO:0016187 {source="Orphanet:98909"} ! qualitative or quantitative defects of desmin is_a: MONDO:0016333 ! familial dilated cardiomyopathy -is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:601419", source="Orphanet:98909"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080092", source="MONDO:Redundant", source="OMIM:601419", source="Orphanet:98909"} ! myofibrillar myopathy is_a: MONDO:0019056 ! neuromuscular disease intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2770 ! DES @@ -249210,6 +249549,7 @@ xref: Orphanet:54260 {source="OMIM:601493"} xref: UMLS:C1832244 {source="MONDO:equivalentTo", source="MEDGEN:316944", source="MONDO:MEDGEN"} is_a: MONDO:0005045 ! hypertrophic cardiomyopathy is_a: MONDO:0018901 {source="DC-OMIM:601493", source="OMIM:601493"} ! left ventricular noncompaction +is_a: MONDO:0024573 {source="OMIM:601493"} ! familial hypertrophic cardiomyopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -249814,7 +250154,7 @@ xref: icd11.foundation:2030725523 {source="MONDO:equivalentTo"} xref: MEDGEN:861486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98634 {source="MONDO:equivalentTo"} xref: UMLS:C4013049 {source="MEDGEN:861486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019503 {source="https://orcid.org/0000-0002-6601-2165"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="Orphanet:98634", source="https://orcid.org/0000-0002-6601-2165"} ! anterior segment dysgenesis [Term] id: MONDO:0011120 @@ -249958,7 +250298,7 @@ xref: OMIM:601675 {source="MONDO:equivalentTo"} xref: Orphanet:453 {source="OMIM:601675"} xref: Orphanet:670 {source="MONDO:equivalentObsolete", source="OMIM:601675"} xref: UMLS:C1866504 {source="MONDO:equivalentTo", source="MEDGEN:355730", source="MONDO:MEDGEN"} -is_a: MONDO:0002470 {source="DC-OMIM:601675", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy +is_a: MONDO:0002470 {source="DC-OMIM:601675", source="DOID:0111873", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:601675"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2 @@ -250198,7 +250538,7 @@ xref: MESH:C536260 {source="DOID:0111050", source="MONDO:equivalentTo", source=" xref: OMIM:601709 {source="DOID:0111050", source="MONDO:equivalentTo", source="Orphanet:220436", source="Orphanet:220436/e"} xref: Orphanet:220436 {source="OMIM:601709", source="DOID:0111050", source="MONDO:equivalentTo"} xref: UMLS:C1866423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356528"} -is_a: MONDO:0000009 {source="DC-OMIM:601709", source="MONDO:Redundant", source="OMIM:601709"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:601709", source="DOID:0111050", source="MONDO:Redundant", source="OMIM:601709"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0020117 {source="Orphanet:220436"} ! alpha granule disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9052 {source="MONDO:mim2gene_medgen"} ! PLAU property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder" xsd:anyURI {source="GARD:0008345"} @@ -250370,7 +250710,7 @@ xref: MEDGEN:400963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538363 {source="MONDO:equivalentTo"} xref: OMIM:601777 {source="MONDO:equivalentTo", source="DOID:0111011"} xref: UMLS:C1866293 {source="MEDGEN:400963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:601777", source="DOID:0111011", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:601777", source="DOID:0111011", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:601777"} ! cone-rod dystrophy is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4689 ! GUCY2D @@ -250767,7 +251107,7 @@ xref: Orphanet:172 {source="OMIM:601847"} xref: Orphanet:79304 {source="MONDO:equivalentTo", source="OMIM:601847"} xref: UMLS:C3489789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483742"} is_a: MONDO:0011559 ! benign recurrent intrahepatic cholestasis type 2 -is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="DOID:0070222", source="MONDO:Redundant", source="OMIM:601847", source="Orphanet:79304"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 ! ABCB11 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/42 {source="MONDO:mim2gene_medgen"} ! ABCB11 @@ -251228,7 +251568,7 @@ xref: Orphanet:3318 {source="OMIM:601977"} xref: Orphanet:71493 {source="OMIM:601977", source="MONDO:directSiblingOf"} xref: UMLS:C3275998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477629"} is_a: MONDO:0002249 {source="DC-OMIM:601977"} ! thrombocytosis disease -is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis +is_a: MONDO:0019111 {source="OMIM:601977", source="OMIMPS:187950"} ! familial thrombocytosis relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7217 {source="MONDO:mim2gene_medgen"} ! MPL property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI @@ -251260,7 +251600,7 @@ xref: MESH:C566594 {source="MONDO:equivalentTo"} xref: OMIM:601992 {source="MONDO:equivalentTo"} xref: Orphanet:95 {source="OMIM:601992"} xref: UMLS:C1865981 {source="MEDGEN:356134", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100339 {source="MESH:C566594", source="Orphanet:95/btnt", source="https://github.com/monarch-initiative/mondo/issues/2807"} ! Friedreich ataxia +is_a: MONDO:0100339 {source="DOID:0111219", source="MESH:C566594", source="Orphanet:95/btnt", source="https://github.com/monarch-initiative/mondo/issues/2807"} ! Friedreich ataxia [Term] id: MONDO:0011176 @@ -251323,7 +251663,7 @@ xref: GARD:18062 {source="MONDO:GARD"} xref: MESH:C566592 {source="MONDO:equivalentTo"} xref: OMIM:602032 {source="MONDO:equivalentTo", source="GARD:0004364"} xref: Orphanet:69084 {source="OMIM:602032"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="DOID:0111658", source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MESH:C566592", source="MONDO:Redundant", source="OMIM:602032"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6462 ! KRT85 @@ -251407,7 +251747,7 @@ xref: MESH:C566587 {source="MONDO:equivalentTo"} xref: OMIM:602078 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:602078"} xref: UMLS:C1865915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356119"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:602078", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081016", source="MONDO:Redundant", source="OMIM:602078", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/691 ! PHOX2A relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -251458,7 +251798,7 @@ xref: OMIM:602080 {source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="OMIM:602080"} xref: UMLS:C4085251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899166"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005382 {source="DC-OMIM:602080", source="OMIM:602080"} ! bone Paget disease +is_a: MONDO:0005382 {source="DC-OMIM:602080", source="DOID:0081365", source="OMIM:602080"} ! bone Paget disease is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -251561,7 +251901,7 @@ xref: OMIM:602083 {source="DOID:0110832", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:602083"} xref: Orphanet:886 {source="OMIM:602083"} xref: UMLS:C1865885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356393"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110832", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110832/inferred", source="MONDO:Redundant", source="OMIM:602083"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602083"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14674 {source="MONDO:mim2gene_medgen"} ! PCDH15 @@ -251655,7 +251995,7 @@ xref: OMIM:602088 {source="MONDO:equivalentTo", source="DOID:0111113"} xref: Orphanet:655 {source="OMIM:602088"} xref: Orphanet:93591 {source="MONDO:equivalentTo"} xref: UMLS:C1865872 {source="MEDGEN:355574", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088"} ! nephronophthisis +is_a: MONDO:0019005 {source="DC-OMIM:602088", source="DOID:0111113", source="MONDO:Redundant", source="OMIM:602088", source="Orphanet:93591"} ! nephronophthisis intersection_of: MONDO:0019005 ! nephronophthisis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17870 ! INVS relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602088"} ! Autosomal recessive inheritance @@ -251746,7 +252086,7 @@ xref: Orphanet:1872 {source="OMIM:602093"} xref: UMLS:C1865869 {source="MONDO:equivalentTo", source="MEDGEN:356104", source="MONDO:MEDGEN"} is_a: MONDO:0000455 {source="DC-OMIM:602093", source="MONDO:Redundant"} ! cone dystrophy is_a: MONDO:0003847 {source="DOID:0080314"} ! hereditary disease -is_a: MONDO:0015993 {source="DOID:0080314"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DOID:0080314", source="OMIM:602093"} ! cone-rod dystrophy intersection_of: MONDO:0000455 ! cone dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 ! GUCA1A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4678 {source="MONDO:mim2gene_medgen"} ! GUCA1A @@ -251796,7 +252136,7 @@ xref: OMIM:602097 {source="DOID:0110833", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:602097"} xref: Orphanet:886 {source="OMIM:602097"} xref: UMLS:C1865865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400865"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110833", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110833/inferred", source="MONDO:Redundant", source="OMIM:602097"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:602097"} ! Autosomal recessive inheritance property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e" xsd:anyURI {source="GARD:0005439"} @@ -251879,7 +252219,7 @@ xref: Orphanet:1040 {source="OMIM:602111"} xref: Orphanet:93356 {source="OMIM:602111", source="MONDO:equivalentTo"} xref: SCTID:719171005 {source="MONDO:equivalentTo"} xref: UMLS:C1865832 {source="MEDGEN:355563", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0080030", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: disease_has_feature HP:0002651 ! Spondyloepimetaphyseal dysplasia relationship: disease_has_feature HP:0002970 ! Genu varum relationship: disease_has_feature HP:0004566 ! Pear-shaped vertebrae @@ -251943,7 +252283,7 @@ xref: MESH:C536546 {source="MONDO:equivalentTo"} xref: OMIM:602134 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:602134"} xref: UMLS:C1865810 {source="MEDGEN:356087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003233 {source="DC-OMIM:602134", source="OMIM:602134"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:602134", source="DOID:0111429", source="OMIM:602134"} ! essential tremor is_a: MONDO:0003847 {source="MESH:C536546/inferred"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -252128,7 +252468,7 @@ xref: MESH:C535795 {source="MONDO:equivalentTo", source="Orphanet:168549", sourc xref: OMIM:602271 {source="MONDO:equivalentTo", source="Orphanet:168549", source="Orphanet:168549/e"} xref: Orphanet:168549 {source="MONDO:equivalentTo", source="OMIM:602271"} xref: UMLS:C1865695 {source="MEDGEN:356065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="DC-OMIM:602271", source="Orphanet:168549"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:602271", source="DOID:0112299", source="OMIM:602271", source="Orphanet:168549"} ! spondylometaphyseal dysplasia is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia intersection_of: MONDO:0016763 ! spondylometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1260 ! CFAP410 @@ -252210,7 +252550,7 @@ xref: OMIM:602347 {source="Orphanet:79305", source="MONDO:equivalentTo", source= xref: Orphanet:172 {source="OMIM:602347"} xref: Orphanet:79305 {source="OMIM:602347", source="MONDO:equivalentTo"} xref: UMLS:C1865643 {source="MEDGEN:356333", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="DOID:0070223", source="MONDO:Redundant", source="OMIM:602347", source="Orphanet:79305"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 ! ABCB4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 @@ -252358,7 +252698,7 @@ xref: OMIM:602401 {source="Orphanet:99672/e", source="MONDO:equivalentTo", sourc xref: Orphanet:99672 {source="OMIM:602401", source="MONDO:equivalentTo"} xref: SCTID:239020008 {source="MONDO:equivalentTo"} xref: UMLS:C3551424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764338"} -is_a: MONDO:0019287 {source="OMIM:602401", source="Orphanet:99672"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111661", source="OMIM:602401", source="Orphanet:99672"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0011220 @@ -252660,7 +253000,7 @@ xref: MEDGEN:355446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566541 {source="MONDO:equivalentTo"} xref: OMIM:602477 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1865342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355446"} -is_a: MONDO:0000032 {source="DC-OMIM:602477", source="OMIM:602477"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:602477", source="DOID:0111310", source="OMIM:602477"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -252688,7 +253028,7 @@ xref: MEDGEN:355962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:602481 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:602481"} xref: UMLS:C1865322 {source="MEDGEN:355962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:602481", source="Orphanet:569/btnt"} ! familial hemiplegic migraine +is_a: MONDO:0000700 {source="DOID:0111182", source="MONDO:Redundant", source="OMIM:602481", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 ! ATP1A2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/800 {source="MONDO:mim2gene_medgen"} ! ATP1A2 @@ -253325,7 +253665,7 @@ xref: SCTID:124668009 {source="MONDO:equivalentTo"} xref: UMLS:C1865145 {source="MEDGEN:400692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:602579"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:602579", source="DOID:0080554", source="OMIM:602579"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535740", source="MONDO:0011257/inferred", source="MONDO:Redundant", source="OMIM:602579", source="Orphanet:79319/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79319"} ! disorder of protein N-glycosylation is_a: MONDO:0019175 {source="MONDO:0018722-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! primary lymphedema @@ -253353,7 +253693,7 @@ xref: MEDGEN:351307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:602588 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:602588"} xref: UMLS:C1865143 {source="MEDGEN:351307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018878 {source="DC-OMIM:602588", source="MONDO:Redundant"} ! branchiootic syndrome +is_a: MONDO:0018878 {source="DC-OMIM:602588", source="MONDO:Redundant", source="OMIM:602588"} ! branchiootic syndrome intersection_of: MONDO:0018878 ! branchiootic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 ! EYA1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3519 {source="MONDO:mim2gene_medgen"} ! EYA1 @@ -253496,7 +253836,7 @@ xref: OMIM:602629 {source="Orphanet:98806/e", source="MONDO:equivalentTo", sourc xref: Orphanet:98806 {source="MONDO:equivalentTo", source="DOID:0090039", source="OMIM:602629"} xref: SCTID:702448007 {source="MONDO:equivalentTo"} xref: UMLS:C1414216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:236274"} -is_a: MONDO:0000476 {source="MONDO:Redundant", source="Orphanet:98806"} ! generalized dystonia +is_a: MONDO:0000476 {source="DOID:0090039", source="MONDO:Redundant", source="Orphanet:98806"} ! generalized dystonia is_a: MONDO:0044807 {source="DOID:0090039/inferred", source="MESH:C538003/inferred", source="MONDO:Redundant", source="OMIM:602629"} ! inherited dystonia intersection_of: MONDO:0000476 ! generalized dystonia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20856 ! THAP1 @@ -253628,7 +253968,7 @@ xref: NANDO:2200443 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:602723 {source="MONDO:equivalentTo"} xref: UMLS:C1864497 {source="MEDGEN:351141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005083 {source="DC-OMIM:602723", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis +is_a: MONDO:0005083 {source="DC-OMIM:602723", source="DOID:0080475", source="MONDO:Redundant", source="OMIM:602723"} ! psoriasis intersection_of: MONDO:0005083 ! psoriasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 ! CARD14 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16446 {source="MONDO:mim2gene_medgen"} ! CARD14 @@ -253846,7 +254186,7 @@ xref: OMIM:602875 {source="Orphanet:40/e", source="MONDO:equivalentTo", source=" xref: Orphanet:40 {source="OMIM:602875", source="MONDO:equivalentTo"} xref: SCTID:718559000 {source="MONDO:equivalentTo"} xref: UMLS:C1864356 {source="MEDGEN:355199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019696 {source="OMIM:602875", source="PMID:31633310"} ! acromesomelic dysplasia +is_a: MONDO:0019696 {source="DOID:0080050", source="OMIM:602875", source="Orphanet:40", source="PMID:31633310"} ! acromesomelic dysplasia intersection_of: MONDO:0019696 ! acromesomelic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7944 ! NPR2 relationship: disease_has_feature HP:0003510 ! Severe short stature @@ -253867,7 +254207,7 @@ xref: MESH:C566419 {source="MONDO:equivalentTo"} xref: OMIM:602966 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:602966"} xref: UMLS:C1864323 {source="MEDGEN:400499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:602966"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080396", source="MONDO:Redundant", source="OMIM:602966"} ! orofacial cleft [Term] id: MONDO:0011277 @@ -253997,7 +254337,7 @@ xref: MEDGEN:1631838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"} xref: Orphanet:298 {source="MONDO:relatedTo", source="OMIM:603041"} xref: UMLS:C4551995 {source="MEDGEN:1631838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018158 {source="DC-OMIM:603041", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:603041", source="DOID:0080119", source="OMIM:603041"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0011284 @@ -254173,7 +254513,7 @@ xref: OMIM:603147 {source="Orphanet:79320/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79320 {source="OMIM:603147", source="MONDO:equivalentTo"} xref: SCTID:709412006 {source="MONDO:equivalentTo"} xref: UMLS:C2930997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443952"} -is_a: MONDO:0005500 {source="DC-OMIM:603147"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:603147", source="DOID:0080555", source="OMIM:603147"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535741", source="MONDO:0011291/inferred", source="MONDO:Redundant", source="NCIT:C126869", source="OMIM:603147", source="Orphanet:79320/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation intersection_of: MONDO:0015286 ! congenital disorder of glycosylation @@ -254461,7 +254801,7 @@ xref: MESH:C566394 {source="MONDO:equivalentTo"} xref: OMIM:603284 {source="DOID:0060670", source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="DOID:0060670", source="OMIM:603284"} xref: UMLS:C1864041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400438"} -is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations +is_a: MONDO:0031037 {source="MONDO:Redundant", source="OMIM:603284", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 ! CCM2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21708 {source="MONDO:mim2gene_medgen"} ! CCM2 @@ -254490,7 +254830,7 @@ xref: MESH:C566393 {source="MONDO:equivalentTo"} xref: OMIM:603285 {source="MONDO:equivalentTo"} xref: Orphanet:221061 {source="DOID:0060671", source="OMIM:603285"} xref: UMLS:C1864040 {source="MEDGEN:355121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0031037 {source="MONDO:Redundant", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations +is_a: MONDO:0031037 {source="MONDO:Redundant", source="OMIM:603285", source="Orphanet:221061/btnt"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 ! PDCD10 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8761 {source="MONDO:mim2gene_medgen"} ! PDCD10 @@ -254575,7 +254915,7 @@ xref: OMIM:603373 {source="Orphanet:99819/e", source="MONDO:equivalentTo", sourc xref: Orphanet:99819 {source="MONDO:equivalentTo", source="OMIM:603373"} xref: SCTID:703309000 {source="MONDO:equivalentTo"} xref: UMLS:C1863959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355106"} -is_a: MONDO:0004425 {source="Orphanet:99819"} ! hyperthyroidism +is_a: MONDO:0004425 {source="DOID:0081102", source="Orphanet:99819"} ! hyperthyroidism is_a: MONDO:0024575 {source="Orphanet:99819"} ! pregnancy disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015582", source="MONDO:0015894"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR @@ -255032,7 +255372,7 @@ xref: Orphanet:93360 {source="OMIM:603546", source="MONDO:equivalentTo", source= xref: SCTID:766820007 {source="MONDO:equivalentTo"} xref: UMLS:C1863732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350960"} is_a: MONDO:0000426 {source="DOID:0112199"} ! autosomal dominant disease -is_a: MONDO:0019675 {source="DC-OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity +is_a: MONDO:0019675 {source="DC-OMIM:603546", source="DOID:0112199", source="OMIM:603546"} ! spondyloepimetaphyseal dysplasia with joint laxity relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6391 {source="MONDO:mim2gene_medgen"} ! KIF22 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations" xsd:anyURI {source="GARD:0009866"} @@ -255239,7 +255579,7 @@ xref: OMIM:603585 {source="Orphanet:238459", source="MONDO:equivalentTo", source xref: Orphanet:238459 {source="OMIM:603585", source="MONDO:equivalentTo"} xref: SCTID:723624008 {source="MONDO:equivalentTo"} xref: UMLS:C1970344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370234"} -is_a: MONDO:0005501 {source="DC-OMIM:603585", source="OMIM:603585"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:603585", source="DOID:0070258", source="OMIM:603585"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:238459"} ! disorder of multiple glycosylation relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease @@ -255306,7 +255646,7 @@ xref: OMIM:603592 {source="Orphanet:93602/e", source="MONDO:equivalentTo", sourc xref: Orphanet:3467 {source="OMIM:603592"} xref: Orphanet:93602 {source="MONDO:equivalentTo", source="OMIM:603592"} xref: UMLS:C1863688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350953"} -is_a: MONDO:0018106 {source="MONDO:Redundant", source="OMIM:603592", source="Orphanet:93602"} ! hereditary xanthinuria +is_a: MONDO:0018106 {source="DOID:0070453", source="MONDO:Redundant", source="OMIM:603592", source="Orphanet:93602"} ! hereditary xanthinuria is_a: MONDO:0019254 {source="MESH:C566358", source="MONDO:Redundant", source="Orphanet:93602/inferred"} ! inborn disorder of purine or pyrimidine metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18234 {source="MONDO:mim2gene_medgen"} ! MOCOS property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2" xsd:anyURI {source="GARD:0005620"} @@ -255481,7 +255821,7 @@ xref: MESH:C566350 {source="MONDO:equivalentTo"} xref: OMIM:603649 {source="MONDO:equivalentTo", source="DOID:0111012"} xref: Orphanet:1872 {source="OMIM:603649"} xref: UMLS:C1863634 {source="MONDO:equivalentTo", source="MEDGEN:355026", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:603649", source="DOID:0111012", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:603649", source="DOID:0111012", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:603649"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 ! RIMS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17282 {source="MONDO:mim2gene_medgen"} ! RIMS1 @@ -255818,7 +256158,7 @@ xref: MESH:C566337 {source="MONDO:equivalentTo"} xref: OMIM:603776 {source="MONDO:equivalentTo"} xref: Orphanet:406 {source="OMIM:603776"} xref: UMLS:C1863551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355007"} -is_a: MONDO:0005439 {source="DC-OMIM:603776", source="MONDO:Redundant"} ! familial hypercholesterolemia +is_a: MONDO:0005439 {source="DC-OMIM:603776", source="MONDO:Redundant", source="OMIM:603776"} ! familial hypercholesterolemia intersection_of: MONDO:0005439 ! familial hypercholesterolemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 ! PCSK9 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20001 {source="MONDO:mim2gene_medgen"} ! PCSK9 @@ -256051,7 +256391,7 @@ xref: OMIM:603902 {source="MONDO:equivalentTo", source="Orphanet:231226", source xref: Orphanet:231226 {source="MONDO:equivalentTo", source="OMIM:603902"} xref: SCTID:716682000 {source="MONDO:equivalentTo"} xref: UMLS:C1858990 {source="MEDGEN:347036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019402 {source="DC-OMIM:603902", source="MESH:C565834", source="Orphanet:231226"} ! beta thalassemia +is_a: MONDO:0019402 {source="DC-OMIM:603902", source="DOID:0080770", source="MESH:C565834", source="Orphanet:231226"} ! beta thalassemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4827 {source="MONDO:mim2gene_medgen"} ! HBB [Term] @@ -256348,7 +256688,7 @@ xref: Orphanet:2478 {source="OMIM:604004", source="MONDO:equivalentTo"} xref: SCTID:703536004 {source="MONDO:equivalentTo"} xref: UMLS:C1858854 {source="MEDGEN:347006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="DC-OMIM:604004", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0019046 {source="Orphanet:2478"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0080315", source="Orphanet:2478"} ! leukodystrophy property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts" xsd:anyURI {source="GARD:0003445"} [Term] @@ -256426,7 +256766,7 @@ xref: MEDGEN:349030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565827 {source="MONDO:equivalentTo"} xref: OMIM:604116 {source="MONDO:equivalentTo", source="DOID:0111013"} xref: UMLS:C1858806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349030"} -is_a: MONDO:0015993 {source="DC-OMIM:604116", source="DOID:0111013", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:604116", source="DOID:0111013", source="MONDO:Redundant", source="OMIM:604116"} ! cone-rod dystrophy is_a: MONDO:0800406 {source="https://clinicalgenome.org/affiliation/40072/"} ! ABCA4-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34 ! ABCA4 @@ -256937,7 +257277,7 @@ xref: Orphanet:708 {source="DOID:0060673", source="MONDO:equivalentTo", source=" xref: SCTID:204153003 {source="MONDO:equivalentTo"} xref: UMLS:C0344559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91031"} is_a: MONDO:0000942 {source="DOID:0060673", source="MESH:C537884/inferred"} ! corneal disorder -is_a: MONDO:0019503 {source="DC-OMIM:604229", source="OMIM:604229"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:604229", source="DOID:0080610", source="OMIM:604229"} ! anterior segment dysgenesis relationship: excluded_subClassOf MONDO:0020220 {source="Orphanet:708", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete corneoiridogoniodysgenesis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000589 "Peters anomaly (disease)" xsd:string @@ -256988,7 +257328,7 @@ xref: MESH:C565809 {source="MONDO:equivalentTo"} xref: OMIM:604233 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:604233"} xref: UMLS:C1858672 {source="MEDGEN:348994", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018214 {source="DC-OMIM:604233", source="OMIM:604233"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:604233", source="DOID:0111302", source="OMIM:604233"} ! generalized epilepsy with febrile seizures plus [Term] id: MONDO:0011417 @@ -257100,7 +257440,7 @@ xref: OMIM:604273 {source="MONDO:equivalentTo", source="DOID:0050768"} xref: Orphanet:254913 {source="DOID:0050768", source="OMIM:604273"} xref: UMLS:C3276276 {source="MEDGEN:477906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="DOID:0050768", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0050768", source="OMIM:604273", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 ! ATPAF2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18802 {source="MONDO:mim2gene_medgen"} ! ATPAF2 @@ -257503,7 +257843,7 @@ xref: MEDGEN:346929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565794 {source="MONDO:equivalentTo"} xref: OMIM:604317 {source="MONDO:equivalentTo"} xref: UMLS:C1858535 {source="MEDGEN:346929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="DC-OMIM:604317", source="OMIM:604317"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:604317", source="DOID:0070293", source="OMIM:604317"} ! autosomal recessive primary microcephaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24502 {source="MONDO:mim2gene_medgen"} ! WDR62 [Term] @@ -257555,7 +257895,7 @@ xref: Orphanet:98920 {source="MONDO:equivalentTo", source="DOID:0111064", source xref: SCTID:711483003 {source="MONDO:equivalentTo"} xref: UMLS:C1858517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388083"} is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Redundant"} ! spinal muscular atrophy -is_a: MONDO:0015363 {source="Orphanet:98920"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0111064", source="OMIM:604320", source="Orphanet:98920"} ! neuronopathy, distal hereditary motor, autosomal recessive intersection_of: MONDO:0001516 ! spinal muscular atrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 ! IGHMBP2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5542 {source="MONDO:mim2gene_medgen"} ! IGHMBP2 @@ -257574,7 +257914,7 @@ xref: MEDGEN:347655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565792 {source="MONDO:equivalentTo"} xref: OMIM:604321 {source="MONDO:equivalentTo"} xref: UMLS:C1858516 {source="MEDGEN:347655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="DC-OMIM:604321", source="OMIM:604321"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:604321", source="DOID:0070291", source="OMIM:604321"} ! autosomal recessive primary microcephaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24054 {source="MONDO:mim2gene_medgen"} ! KNL1 [Term] @@ -257748,7 +258088,7 @@ xref: MEDGEN:347652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565788 {source="MONDO:equivalentTo"} xref: OMIM:604352 {source="MONDO:equivalentTo"} xref: UMLS:C1858493 {source="MEDGEN:347652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000032 {source="DC-OMIM:604352", source="MONDO:Redundant", source="OMIM:604352"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:604352", source="DOID:0111305", source="MONDO:Redundant", source="OMIM:604352"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17416 ! ADGRV1 @@ -257870,7 +258210,7 @@ xref: MEDGEN:328393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604367 {source="Orphanet:79083", source="MONDO:equivalentTo", source="Orphanet:79083/e"} xref: Orphanet:79083 {source="OMIM:604367", source="MONDO:equivalentTo"} xref: UMLS:C1720861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328393"} -is_a: MONDO:0020088 {source="DC-OMIM:604367", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy +is_a: MONDO:0020088 {source="DC-OMIM:604367", source="DOID:0070204", source="OMIM:604367", source="Orphanet:79083"} ! familial partial lipodystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -257961,7 +258301,7 @@ xref: MEDGEN:1748867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604377 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:604377"} xref: UMLS:C5399977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1748867"} -is_a: MONDO:0015487 {source="DC-OMIM:604377", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy +is_a: MONDO:0015487 {source="DC-OMIM:604377", source="DOID:0080357", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 ! SCO2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10604 {source="MONDO:mim2gene_medgen"} ! SCO2 @@ -258216,7 +258556,7 @@ xref: OMIM:604403 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:604403"} xref: UMLS:C1858673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388117"} is_a: MONDO:0000032 {source="DC-OMIM:604403", source="MONDO:Redundant", source="OMIM:604403"} ! febrile seizures, familial -is_a: MONDO:0018214 {source="DC-OMIM:604403", source="OMIM:604403"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:604403", source="DOID:0111294", source="OMIM:604403"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A @@ -258847,7 +259187,7 @@ xref: MESH:C537265 {source="MONDO:equivalentTo"} xref: OMIM:604777 {source="GARD:0009734", source="MONDO:equivalentTo", source="DOID:0060714"} xref: Orphanet:313 {source="OMIM:604777"} xref: UMLS:C1858133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347628"} -is_a: MONDO:0017265 {source="OMIM:604777"} ! autosomal recessive congenital ichthyosis +is_a: MONDO:0017265 {source="DOID:0060714", source="OMIM:604777"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="MESH:C537265", source="Orphanet:313/btnt"} ! lamellar ichthyosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -258924,7 +259264,7 @@ xref: MESH:C565746 {source="MONDO:equivalentTo"} xref: OMIM:604804 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:604804"} xref: UMLS:C1858108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347619"} -is_a: MONDO:0016660 {source="DC-OMIM:604804", source="MONDO:Redundant", source="OMIM:604804"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:604804", source="DOID:0070286", source="MONDO:Redundant", source="OMIM:604804"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 ! CDK5RAP2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18672 {source="MONDO:mim2gene_medgen"} ! CDK5RAP2 @@ -259050,7 +259390,7 @@ xref: Orphanet:828 {source="OMIM:604841"} xref: Orphanet:90654 {source="OMIM:604841", source="MONDO:equivalentTo"} xref: UMLS:C1858084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:347615"} is_a: MONDO:0005381 ! bone disorder -is_a: MONDO:0019354 {source="DC-OMIM:604841", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome +is_a: MONDO:0019354 {source="DC-OMIM:604841", source="DOID:0080675", source="MONDO:Redundant", source="NCIT:C74985", source="OMIM:604841", source="Orphanet:90654"} ! Stickler syndrome intersection_of: MONDO:0019354 ! Stickler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 ! COL11A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2186 {source="MONDO:mim2gene_medgen"} ! COL11A1 @@ -259843,7 +260183,8 @@ xref: Orphanet:101089 {source="OMIM:605258", source="MONDO:equivalentTo", source xref: Orphanet:183666 {source="OMIM:605258", source="DOID:0060758"} xref: SCTID:403836001 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: UMLS:C1720956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:354548"} -is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:605258"} ! hyper-IgM syndrome +is_a: MONDO:0003947 {source="DOID:0060758", source="MONDO:Redundant", source="OMIM:605258"} ! hyper-IgM syndrome +is_a: MONDO:0006025 {source="DOID:0060758"} ! autosomal recessive disease intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13203 ! AICDA relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -259994,7 +260335,7 @@ xref: OMIM:605282 {source="Orphanet:363417/e", source="MONDO:equivalentTo", sour xref: Orphanet:363417 {source="MONDO:equivalentTo", source="OMIM:605282"} xref: UMLS:C1854466 {source="MEDGEN:381425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050814", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0006025 {source="DOID:0050814", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015286 ! congenital disorder of glycosylation @@ -260734,7 +261075,7 @@ xref: MEDGEN:381360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565322 {source="MONDO:equivalentTo"} xref: OMIM:605549 {source="MONDO:equivalentTo", source="DOID:0111014"} xref: UMLS:C1854180 {source="MONDO:equivalentTo", source="MEDGEN:381360", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:605549", source="DOID:0111014"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:605549", source="DOID:0111014", source="OMIM:605549"} ! cone-rod dystrophy [Term] id: MONDO:0011565 @@ -261046,7 +261387,7 @@ xref: OMIM:605635 {source="Orphanet:404", source="MONDO:equivalentTo", source="O xref: Orphanet:404 {source="OMIM:605635", source="MONDO:equivalentTo"} xref: SCTID:703233008 {source="MONDO:equivalentTo"} xref: UMLS:C1854107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340137"} -is_a: MONDO:0016525 {source="Orphanet:404"} ! familial hyperaldosteronism +is_a: MONDO:0016525 {source="OMIM:605635", source="Orphanet:404"} ! familial hyperaldosteronism is_a: MONDO:0021227 {source="Orphanet:404"} ! adrenal gland neoplasm [Term] @@ -261070,7 +261411,7 @@ xref: OMIM:605637 {source="MONDO:equivalentTo"} xref: Orphanet:79091 {source="OMIM:605637"} xref: UMLS:C1854106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381340"} is_a: MONDO:0007827 {source="MESH:C565311"} ! inclusion body myositis -is_a: MONDO:0019952 {source="OMIM:605637"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0080719", source="OMIM:605637"} ! congenital myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7572 {source="MONDO:mim2gene_medgen"} ! MYH2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -261222,7 +261563,7 @@ xref: OMIM:605711 {source="DOID:0080133", source="MONDO:equivalentTo", source="O xref: Orphanet:289573 {source="OMIM:605711"} xref: Orphanet:401869 {source="OMIM:605711", source="MONDO:equivalentTo"} xref: UMLS:C3276432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:478062"} -is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0080133", source="MONDO:Redundant", source="OMIM:605711", source="Orphanet:401869"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 ! NFU1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16287 {source="MONDO:mim2gene_medgen"} ! NFU1 @@ -261326,7 +261667,7 @@ xref: Orphanet:139552 {source="MONDO:equivalentTo", source="OMIM:605726", source xref: SCTID:763533003 {source="MONDO:equivalentTo"} xref: UMLS:C1854023 {source="MEDGEN:344189", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:605726", source="DOID:0111065", source="MESH:C535715"} ! spinal muscular atrophy -is_a: MONDO:0015363 {source="Orphanet:139552"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0111065", source="OMIM:605726", source="Orphanet:139552"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0011586 @@ -261342,7 +261683,7 @@ xref: OMIM:605727 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:605727"} xref: UMLS:C1854022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340117"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:605727", source="DOID:0060921", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis [Term] id: MONDO:0011587 @@ -261395,7 +261736,7 @@ xref: MEDGEN:414043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567786 {source="MONDO:equivalentTo"} xref: OMIM:605735 {source="MONDO:equivalentTo", source="DOID:0111058"} xref: UMLS:C2751535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414043"} -is_a: MONDO:0000009 {source="DC-OMIM:605735", source="OMIM:605735"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:605735", source="DOID:0111058", source="OMIM:605735"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0001531 {source="DOID:0111058", source="MONDO:Redundant"} ! blood coagulation disease is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020116"} ! rare @@ -261463,7 +261804,7 @@ xref: MESH:C565297 {source="MONDO:equivalentTo"} xref: OMIM:605750 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:605750"} xref: UMLS:C1854002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344184"} -is_a: MONDO:0019516 {source="DC-OMIM:605750", source="OMIM:605750"} ! exudative vitreoretinopathy +is_a: MONDO:0019516 {source="DC-OMIM:605750", source="DOID:0111409", source="OMIM:605750"} ! exudative vitreoretinopathy [Term] id: MONDO:0011593 @@ -261482,7 +261823,7 @@ xref: MESH:C565296 {source="MONDO:equivalentTo"} xref: OMIM:605751 {source="MONDO:equivalentTo"} xref: Orphanet:306 {source="OMIM:605751"} xref: UMLS:C1853995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:381313"} -is_a: MONDO:0017615 {source="DC-OMIM:605751", source="OMIM:605751"} ! benign familial infantile epilepsy +is_a: MONDO:0017615 {source="DC-OMIM:605751", source="DOID:0081115", source="OMIM:605751"} ! benign familial infantile epilepsy is_a: MONDO:0100556 {source="PMID:33746883", source="https://rarediseases.org/rare-diseases/prrt2-associated-paroxysmal-movement-disorders/#references"} ! PRRT2-associated paroxysmal movement disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30500 {source="OMIM:605751"} ! PRRT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6461" xsd:anyURI @@ -261527,7 +261868,7 @@ xref: OMIM:605779 {source="Orphanet:79144/e", source="DOID:0080085", source="MON xref: Orphanet:79144 {source="OMIM:605779", source="MONDO:equivalentTo"} xref: SCTID:403281007 {source="MONDO:equivalentTo"} xref: UMLS:C5574953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803839"} -is_a: MONDO:0019284 {source="DC-OMIM:605779", source="OMIM:605779", source="Orphanet:79144"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:605779", source="DOID:0080085", source="OMIM:605779", source="Orphanet:79144"} ! inherited isolated nail anomaly relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -262285,7 +262626,7 @@ xref: MEDGEN:340048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606053 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:606053"} xref: UMLS:C1853755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340048"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:606053"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -262372,7 +262713,7 @@ xref: Orphanet:79330 {source="MONDO:equivalentTo", source="OMIM:606056"} xref: SCTID:725028009 {source="MONDO:equivalentTo"} xref: UMLS:C1853736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342954"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005501 {source="DC-OMIM:606056", source="OMIM:606056"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:606056", source="DOID:0070254", source="OMIM:606056"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79330"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare @@ -262567,7 +262908,7 @@ xref: MESH:C536130 {source="MONDO:equivalentTo"} xref: OMIM:606129 {source="MONDO:equivalentTo", source="GARD:0008283"} xref: UMLS:C1853666 {source="MEDGEN:344104", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0015253 {source="DC-OMIM:606129", source="MESH:C536130", source="OMIM:606129"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:606129", source="DOID:0111885", source="MESH:C536130", source="OMIM:606129"} ! Diamond-Blackfan anemia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2" xsd:anyURI {source="GARD:0008283"} [Term] @@ -262643,7 +262984,7 @@ xref: MEDGEN:902755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606164 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:606164"} xref: UMLS:C4225411 {source="MEDGEN:902755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="MONDO:Redundant", source="OMIM:606164"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111894", source="MONDO:Redundant", source="OMIM:606164"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 ! RPS28 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10418 {source="MONDO:mim2gene_medgen"} ! RPS28 @@ -263004,7 +263345,7 @@ xref: OMIM:606263 {source="MONDO:equivalentTo"} xref: Orphanet:280110 {source="OMIM:606263"} xref: UMLS:C1853473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339991"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005382 {source="DC-OMIM:606263", source="OMIM:606263"} ! bone Paget disease +is_a: MONDO:0005382 {source="DC-OMIM:606263", source="DOID:0081367", source="OMIM:606263"} ! bone Paget disease [Term] id: MONDO:0011657 @@ -263201,7 +263542,7 @@ xref: NANDO:2200736 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:606367 {source="Orphanet:169100/e", source="MONDO:equivalentTo", source="Orphanet:169100"} xref: Orphanet:169100 {source="MONDO:equivalentTo", source="OMIM:606367"} xref: UMLS:C1853392 {source="MEDGEN:377894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="OMIM:606367", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6008 {source="MONDO:mim2gene_medgen"} ! IL2RA [Term] @@ -263366,7 +263707,7 @@ xref: OMIM:606408 {source="Orphanet:230839", source="MONDO:equivalentTo", source xref: Orphanet:230839 {source="MONDO:equivalentTo", source="OMIM:606408"} xref: UMLS:C1848029 {source="MEDGEN:336244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:0011670/inferred", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0020066 {source="MESH:C536193", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DOID:0080731", source="MESH:C536193", source="OMIM:606408", source="Orphanet:230839"} ! Ehlers-Danlos syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11976 {source="MONDO:mim2gene_medgen"} ! TNXB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -263860,7 +264201,7 @@ xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:606612"} xref: Orphanet:370980 {source="MONDO:relatedTo", source="OMIM:606612"} xref: Orphanet:52428 {source="DOID:0110635", source="OMIM:606612", source="MONDO:equivalentObsolete"} xref: UMLS:C1847759 {source="MEDGEN:335764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000172 {source="DC-OMIM:606612", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DC-OMIM:606612", source="DOID:0110635", source="OMIM:606612"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700066 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKRP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17997 {source="MONDO:mim2gene_medgen"} ! FKRP @@ -264570,7 +264911,7 @@ xref: MESH:C564665 {source="MONDO:equivalentTo"} xref: OMIM:606766 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:606766"} xref: UMLS:C4721889 {source="MEDGEN:1648302", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:606766", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:606766", source="DOID:0070168", source="MESH:C564665", source="MONDO:Redundant", source="OMIM:606766"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 ! SLC26A8 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14468 ! SLC26A8 @@ -264599,7 +264940,7 @@ xref: OMIM:606768 {source="Orphanet:178400", source="MONDO:equivalentTo", source xref: Orphanet:178400 {source="OMIM:606768", source="MONDO:equivalentTo"} xref: UMLS:C1847532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335706"} is_a: MONDO:0016145 {source="Orphanet:178400"} ! qualitative or quantitative defects of dysferlin -is_a: MONDO:0018949 {source="DC-OMIM:606768", source="MONDO:Redundant", source="Orphanet:178400/inferred"} ! distal myopathy +is_a: MONDO:0018949 {source="DC-OMIM:606768", source="DOID:0111187", source="MONDO:Redundant", source="OMIM:606768", source="Orphanet:178400/inferred"} ! distal myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3097 {source="MONDO:mim2gene_medgen"} ! DYSF [Term] @@ -264960,7 +265301,7 @@ xref: OMIM:606843 {source="DOID:0060023", source="MONDO:equivalentTo", source="O xref: Orphanet:101090 {source="DOID:0060023", source="OMIM:606843", source="MONDO:equivalentTo", source="GARD:0010579"} xref: Orphanet:183663 {source="OMIM:606843"} xref: UMLS:C1720957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328419"} -is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:606843"} ! hyper-IgM syndrome +is_a: MONDO:0003947 {source="DOID:0060023", source="MONDO:Redundant", source="OMIM:606843"} ! hyper-IgM syndrome intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 ! CD40 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11919 {source="MONDO:mim2gene_medgen"} ! CD40 @@ -265221,7 +265562,7 @@ xref: OMIM:606943 {source="DOID:0110834", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:606943"} xref: Orphanet:886 {source="OMIM:606943"} xref: UMLS:C1847089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339683"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110834", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110834/inferred", source="MESH:C564643", source="MONDO:Redundant", source="OMIM:606943"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16356 ! USH1G @@ -265444,7 +265785,7 @@ xref: OMIM:607014 {source="Orphanet:93473", source="MONDO:equivalentTo", source= xref: Orphanet:579 {source="OMIM:607014"} xref: Orphanet:93473 {source="MONDO:equivalentTo", source="OMIM:607014"} xref: UMLS:C0086795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:39698"} -is_a: MONDO:0001586 {source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="DOID:0111390", source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease is_a: MONDO:0002561 {source="NCIT:C61261/inferred", source="Orphanet:93473/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0016340 ! familial restrictive cardiomyopathy @@ -265493,7 +265834,7 @@ xref: Orphanet:579 {source="OMIM:607015"} xref: Orphanet:93476 {source="MONDO:equivalentTo", source="OMIM:607015"} xref: SCTID:73123008 {source="MONDO:equivalentTo"} xref: UMLS:C0086431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88566"} -is_a: MONDO:0001586 {source="NCIT:C122782", source="Orphanet:93476"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="DOID:0111389", source="NCIT:C122782", source="Orphanet:93476"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement disjoint_from: MONDO:0011760 ! Scheie syndrome @@ -265533,7 +265874,7 @@ xref: OMIM:607016 {source="DOID:0060222", source="Orphanet:93474", source="MONDO xref: Orphanet:579 {source="OMIM:607016"} xref: Orphanet:93474 {source="DOID:0060222", source="MONDO:equivalentTo", source="OMIM:607016"} xref: UMLS:C0026708 {source="MEDGEN:6453", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001586 {source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="DOID:0060222", source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61265"} ! syndromic disease is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5391 {source="MONDO:mim2gene_medgen"} ! IDUA @@ -265664,7 +266005,7 @@ xref: OMIM:607078 {source="Orphanet:93311", source="MONDO:equivalentTo", source= xref: Orphanet:93311 {source="MONDO:equivalentTo", source="OMIM:607078"} xref: SCTID:715674008 {source="MONDO:equivalentTo"} xref: UMLS:C1846843 {source="MEDGEN:335542", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016648 {source="DC-OMIM:607078", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311"} ! multiple epiphyseal dysplasia +is_a: MONDO:0016648 {source="DC-OMIM:607078", source="DOID:0070299", source="MONDO:Redundant", source="OMIM:607078", source="Orphanet:93311"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 ! MATN3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6909 {source="MONDO:mim2gene_medgen"} ! MATN3 @@ -265798,7 +266139,7 @@ xref: OMIM:607088 {source="Orphanet:139547", source="MONDO:equivalentTo", source xref: Orphanet:139547 {source="MONDO:equivalentTo", source="OMIM:607088"} xref: UMLS:C1846823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337659"} is_a: MONDO:0001516 {source="DC-OMIM:607088", source="MESH:C564626"} ! spinal muscular atrophy -is_a: MONDO:0015363 {source="Orphanet:139547"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0111211", source="OMIM:607088", source="Orphanet:139547"} ! neuronopathy, distal hereditary motor, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -265834,7 +266175,7 @@ xref: Orphanet:79332 {source="OMIM:607091", source="MONDO:equivalentTo"} xref: SCTID:725587007 {source="MONDO:equivalentTo"} xref: UMLS:C2931009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419310"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005501 {source="DC-OMIM:607091", source="OMIM:607091"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:607091", source="DOID:0070256", source="OMIM:607091"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017749 {source="Orphanet:79332"} ! disorder of multiple glycosylation @@ -266172,7 +266513,7 @@ xref: OMIM:607143 {source="Orphanet:79324/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79324 {source="MONDO:equivalentTo", source="OMIM:607143"} xref: SCTID:711155008 {source="MONDO:equivalentTo"} xref: UMLS:C2931001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443954"} -is_a: MONDO:0005500 {source="DC-OMIM:607143"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:607143", source="DOID:0080559", source="OMIM:607143"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535745", source="MONDO:0011783/inferred", source="MONDO:Redundant", source="NCIT:C126873", source="OMIM:607143", source="Orphanet:79324/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -266260,6 +266601,7 @@ xref: NCIT:C79532 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: SCTID:38103000 {source="DOID:4481"} xref: SCTID:61582004 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: UMLS:C2607914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382012"} +is_a: MONDO:0000771 {source="DOID:4481"} ! allergic respiratory disease is_a: MONDO:0003014 {source="DOID:4481", source="MONDO:Redundant", source="NCIT:C79532"} ! rhinitis is_a: MONDO:0005271 {source="EFO:0005854", source="MONDO:Redundant", source="MONDO:indirect"} ! allergic disease intersection_of: MONDO:0003014 ! rhinitis @@ -266360,6 +266702,7 @@ xref: NCIT:C5301 {source="DOID:4586", source="MONDO:equivalentTo"} xref: OMIM:607174 {source="DOID:4586", source="MONDO:equivalentTo"} xref: Orphanet:263662 {source="OMIM:607174"} xref: UMLS:C3551915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764829"} +is_a: MONDO:0016642 {source="DOID:4586", source="NCIT:C5301"} ! meningioma is_a: MONDO:0020573 {source="OMIM:607174"} ! inherited disease susceptibility intersection_of: MONDO:0016642 ! meningioma intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -266422,7 +266765,7 @@ xref: MESH:C564608 {source="MONDO:equivalentTo"} xref: OMIM:607200 {source="MONDO:equivalentTo"} xref: Orphanet:95716 {source="OMIM:607200"} xref: UMLS:C1846632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375935"} -is_a: MONDO:0010132 {source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112189", source="MONDO:Redundant", source="Orphanet:95716/btnt"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 ! DUOX2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13273 {source="MONDO:mim2gene_medgen"} ! DUOX2 @@ -266897,7 +267240,7 @@ xref: SCTID:699867001 {source="MONDO:equivalentTo", source="MONDO:preferredExter xref: SCTID:720415006 {source="MONDO:equivalentTo"} xref: UMLS:C1623209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:301647"} is_a: MONDO:0000426 {source="DOID:0060747", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060747", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0018234 ! dysostosis is_a: MONDO:0019054 ! congenital limb malformation is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect @@ -266948,7 +267291,7 @@ xref: MEDGEN:854757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607326 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="OMIM:607326"} xref: UMLS:C3888088 {source="MEDGEN:854757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015799 {source="DC-OMIM:607326", source="MONDO:Redundant", source="OMIM:607326"} ! Smith-McCort dysplasia +is_a: MONDO:0015799 {source="DC-OMIM:607326", source="DOID:0081270", source="MONDO:Redundant", source="OMIM:607326"} ! Smith-McCort dysplasia intersection_of: MONDO:0015799 ! Smith-McCort dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 ! DYM relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21317 {source="MONDO:mim2gene_medgen"} ! DYM @@ -267216,7 +267559,7 @@ xref: MEDGEN:409897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607373 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:607373"} xref: UMLS:C1969710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409897"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:607373"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -267312,7 +267655,7 @@ xref: MEDGEN:334541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564404 {source="MONDO:equivalentTo"} xref: OMIM:607417 {source="MONDO:equivalentTo"} xref: UMLS:C1843942 {source="MEDGEN:334541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:607417", source="MONDO:Redundant", source="OMIM:607417"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:607417", source="DOID:0081178", source="MONDO:Redundant", source="OMIM:607417"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 ! CRBN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30185 {source="MONDO:mim2gene_medgen"} ! CRBN @@ -267339,7 +267682,7 @@ xref: MEDGEN:764868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607426 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:607426"} xref: UMLS:C3551954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:764868"} -is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:607426"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DOID:0070238", source="MONDO:Redundant", source="OMIM:607426"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 ! COQ2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25223 {source="MONDO:mim2gene_medgen"} ! COQ2 @@ -267555,7 +267898,7 @@ xref: ONCOTREE:THHC {source="MONDO:equivalentTo"} xref: Orphanet:146 {source="OMIM:607464"} xref: SCTID:423158009 {source="DOID:8161", source="MONDO:equivalentTo"} xref: UMLS:C0749424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:196672"} -is_a: MONDO:0005034 ! thyroid gland follicular carcinoma +is_a: MONDO:0005034 {source="DOID:8161"} ! thyroid gland follicular carcinoma is_a: MONDO:0015447 {source="Orphanet:146/btnt"} ! differentiated thyroid carcinoma relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17194 {source="MONDO:mim2gene_medgen"} ! NDUFA13 @@ -267579,7 +267922,7 @@ xref: MEDGEN:334505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564393 {source="MONDO:equivalentTo"} xref: OMIM:607473 {source="MONDO:equivalentTo"} xref: UMLS:C1843832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334505"} -is_a: MONDO:0015722 {source="MONDO:Redundant", source="OMIM:607473"} ! congenital vitamin K-dependent coagulation factors deficiency +is_a: MONDO:0015722 {source="DOID:0112174", source="MONDO:Redundant", source="OMIM:607473"} ! congenital vitamin K-dependent coagulation factors deficiency intersection_of: MONDO:0015722 ! congenital vitamin K-dependent coagulation factors deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 ! VKORC1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23663 {source="MONDO:mim2gene_medgen"} ! VKORC1 @@ -267750,7 +268093,7 @@ xref: UMLS:C4225408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005021 {source="DC-OMIM:607487", source="MESH:C564388"} ! dilated cardiomyopathy is_a: MONDO:0005045 {source="DOID:0110328", source="MONDO:Redundant", source="OMIM:607487"} ! hypertrophic cardiomyopathy is_a: MONDO:0016192 ! qualitative or quantitative defects of telethonin -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110328", source="MONDO:OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 ! TCAP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11610 {source="MONDO:mim2gene_medgen"} ! TCAP @@ -267789,7 +268132,7 @@ synonym: "migraine with or without aura, susceptibility to, type 3" EXACT [MONDO xref: MEDGEN:375283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607498 {source="MONDO:equivalentTo"} xref: UMLS:C1843782 {source="MEDGEN:375283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:607498", source="OMIM:607498/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:607498", source="OMIM:607498", source="OMIM:607498/inferred"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0011846 @@ -267839,7 +268182,7 @@ xref: SCTID:193027003 {source="DOID:12783"} xref: SCTID:193029000 {source="DOID:12783"} xref: SCTID:56097005 {source="MONDO:relatedTo", source="EFO:0005296", source="DOID:12783"} xref: UMLS:C1843773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336040"} -is_a: MONDO:0100246 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004", source="OMIM:607501"} ! migraine with or without aura, susceptibility to relationship: predisposes_towards MONDO:0100431 {source="OMIM:607501"} ! migraine without aura property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3984" xsd:anyURI @@ -267901,7 +268244,7 @@ synonym: "migraine with or without aura, susceptibility to, type 5" EXACT [MONDO xref: MEDGEN:334831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607508 {source="MONDO:equivalentTo"} xref: UMLS:C1843771 {source="MEDGEN:334831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:607508", source="OMIM:607508/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:607508", source="OMIM:607508", source="OMIM:607508/inferred"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0011851 @@ -267939,7 +268282,7 @@ xref: MESH:C564384 {source="MONDO:equivalentTo"} xref: OMIM:607523 {source="DOID:0080086", source="MONDO:equivalentTo"} xref: UMLS:C1843761 {source="MONDO:equivalentTo", source="MEDGEN:375277", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease -is_a: MONDO:0019284 {source="DC-OMIM:607523", source="MONDO:Redundant", source="OMIM:607523"} ! inherited isolated nail anomaly +is_a: MONDO:0019284 {source="DC-OMIM:607523", source="DOID:0080086", source="MONDO:Redundant", source="OMIM:607523"} ! inherited isolated nail anomaly intersection_of: MONDO:0019284 ! inherited isolated nail anomaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 ! COL7A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2214 {source="MONDO:mim2gene_medgen"} ! COL7A1 @@ -268027,7 +268370,7 @@ xref: MESH:C535791 {source="Orphanet:168552", source="MONDO:equivalentTo", sourc xref: OMIM:607543 {source="Orphanet:168552", source="MONDO:equivalentTo", source="Orphanet:168552/e"} xref: Orphanet:168552 {source="MONDO:equivalentTo", source="OMIM:607543"} xref: UMLS:C1843706 {source="MEDGEN:375263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="Orphanet:168552"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DOID:0112305", source="Orphanet:168552"} ! spondylometaphyseal dysplasia [Term] id: MONDO:0011857 @@ -268154,7 +268497,7 @@ xref: MEDGEN:460728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607594 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:607594"} xref: UMLS:C3149378 {source="MEDGEN:460728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:607594", source="OMIM:607594"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:607594", source="DOID:0081144", source="OMIM:607594"} ! common variable immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5351 {source="MONDO:mim2gene_medgen"} ! ICOS [Term] @@ -268184,7 +268527,7 @@ xref: MEDGEN:335969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="DOID:0060265", source="OMIM:607596"} xref: UMLS:C1843504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335969"} -is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="DOID:0060265", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 is_a: MONDO:0020135 {source="DOID:0060265", source="MONDO:Redundant", source="OMIM:607596"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12718 ! VRK1 @@ -268455,7 +268798,7 @@ xref: MEDGEN:416407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607628 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:607628"} xref: UMLS:C2750893 {source="MEDGEN:416407", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:1030001 ! epilepsy, juvenile absence, susceptibility to +is_a: MONDO:1030001 {source="OMIM:607628"} ! epilepsy, juvenile absence, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2020 ! CLCN2 intersection_of: predisposes_towards MONDO:0005579 ! epilepsy, idiopathic generalized @@ -268505,6 +268848,7 @@ xref: OMIM:607634 {source="Orphanet:2783", source="MONDO:equivalentTo", source=" xref: Orphanet:2783 {source="OMIM:607634", source="MONDO:equivalentTo", source="DOID:0110937"} xref: UMLS:C1843330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335932"} is_a: MONDO:0017198 {source="DC-OMIM:607634", source="DOID:0110937", source="MONDO:Redundant", source="OMIM:607634", source="Orphanet:2783"} ! osteopetrosis +is_a: MONDO:0020645 {source="OMIM:607634"} ! autosomal dominant osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6697 ! LRP5 relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -268586,7 +268930,7 @@ xref: MESH:C536163 {source="MONDO:equivalentTo"} xref: OMIM:607654 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="OMIM:607654"} xref: UMLS:C2931123 {source="MEDGEN:418996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma +is_a: MONDO:0018865 {source="DOID:0081110", source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 {source="MONDO:mim2gene_medgen"} ! KRT1 @@ -268877,9 +269221,9 @@ xref: OMIM:611277 {source="MONDO:equivalentObsolete"} xref: Orphanet:36387 {source="OMIM:611277"} xref: Orphanet:64280 {source="OMIM:607681"} xref: UMLS:C1969810 {source="MEDGEN:370755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000032 {source="DC-OMIM:611277", source="OMIM:611277"} ! febrile seizures, familial -is_a: MONDO:0010826 {source="OMIMPS:600131", source="https://github.com/monarch-initiative/mondo/issues/1062"} ! childhood absence epilepsy -is_a: MONDO:0018214 {source="DC-OMIM:611277", source="MONDO:Redundant", source="OMIM:611277"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0000032 {source="DC-OMIM:611277", source="DOID:0111298", source="OMIM:607681", source="OMIM:611277"} ! febrile seizures, familial +is_a: MONDO:0010826 {source="OMIM:607681", source="OMIMPS:600131", source="https://github.com/monarch-initiative/mondo/issues/1062"} ! childhood absence epilepsy +is_a: MONDO:0018214 {source="DC-OMIM:611277", source="MONDO:Redundant", source="OMIM:607681", source="OMIM:611277"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0000032 ! febrile seizures, familial intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4087 ! GABRG2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -269284,7 +269628,7 @@ xref: Orphanet:140927 {source="OMIM:607745", source="MONDO:equivalentTo", source xref: Orphanet:306 {source="OMIM:607745", source="OMIM:601764"} xref: UMLS:C1843140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375105"} is_a: MONDO:0015642 {source="MONDO:Redundant", source="Orphanet:140927"} ! benign partial infantile seizures -is_a: MONDO:0017615 {source="DC-OMIM:607745", source="MONDO:Redundant", source="OMIM:601764", source="OMIM:607745"} ! benign familial infantile epilepsy +is_a: MONDO:0017615 {source="DC-OMIM:607745", source="DOID:0081116", source="MONDO:Redundant", source="OMIM:601764", source="OMIM:607745"} ! benign familial infantile epilepsy intersection_of: MONDO:0017615 ! benign familial infantile epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A @@ -270017,7 +270361,7 @@ xref: MESH:C564313 {source="MONDO:equivalentTo"} xref: OMIM:607876 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:607876"} xref: UMLS:C1842852 {source="MEDGEN:375031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000160 {source="DC-OMIM:607876", source="MONDO:Redundant", source="OMIM:607876"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DC-OMIM:607876", source="DOID:0111692", source="MONDO:Redundant", source="OMIM:607876"} ! epilepsy, familial adult myoclonic intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/282 ! ADRA2B relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy @@ -270104,7 +270448,7 @@ xref: OMIM:607906 {source="Orphanet:79326", source="MONDO:equivalentTo", source= xref: Orphanet:79326 {source="MONDO:equivalentTo", source="OMIM:607906"} xref: UMLS:C1842836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334618"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:607906"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:607906", source="DOID:0080561", source="OMIM:607906"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0011933/inferred", source="MONDO:Redundant", source="OMIM:607906", source="Orphanet:79326/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79326"} ! disorder of protein N-glycosylation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -270208,7 +270552,7 @@ xref: OMIM:607932 {source="MONDO:equivalentTo", source="Orphanet:139471", source xref: Orphanet:139471 {source="OMIM:607932", source="MONDO:equivalentTo"} xref: SCTID:721878003 {source="MONDO:equivalentTo"} xref: UMLS:C1864689 {source="MONDO:equivalentTo", source="MEDGEN:355268", source="MONDO:MEDGEN"} -is_a: MONDO:0016073 {source="DC-OMIM:607932", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:607932", source="DOID:0111805", source="OMIM:607932", source="Orphanet:139471"} ! syndromic microphthalmia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1071 {source="MONDO:mim2gene_medgen"} ! BMP4 [Term] @@ -270233,7 +270577,7 @@ xref: OMIM:607936 {source="MONDO:equivalentTo"} xref: Orphanet:289586 {source="OMIM:607936"} xref: UMLS:C4225407 {source="MEDGEN:895692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis -is_a: MONDO:0019347 {source="DC-OMIM:607936", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome +is_a: MONDO:0019347 {source="DC-OMIM:607936", source="DOID:0070523", source="MONDO:Redundant", source="OMIM:607936"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 ! CSTA relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2481 {source="MONDO:mim2gene_medgen"} ! CSTA @@ -270512,7 +270856,7 @@ xref: MESH:C537312 {source="MONDO:equivalentTo"} xref: OMIM:608029 {source="MONDO:equivalentTo", source="Orphanet:284332", source="Orphanet:284332/e"} xref: Orphanet:284332 {source="OMIM:608029", source="MONDO:equivalentTo"} xref: UMLS:C1842676 {source="MEDGEN:334220", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0111617", source="OMIM:608029", source="Orphanet:284332"} ! autosomal recessive cerebellar ataxia relationship: has_characteristic HP:0003593 ! Infantile onset [Term] @@ -270617,6 +270961,7 @@ xref: OMIM:608035 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:608035"} xref: UMLS:C1842643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334129"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:608035"} ! susceptibility to familial cutaneous melanoma relationship: excluded_subClassOf MONDO:0018961 {source="Orphanet:618/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:608035", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma relationship: predisposes_towards MONDO:0005012 {source="https://orcid.org/0000-0002-4142-7153"} ! cutaneous melanoma @@ -270650,7 +270995,7 @@ xref: MEDGEN:334211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608049 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:608049"} xref: UMLS:C1842632 {source="MEDGEN:334211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:608049"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -270675,7 +271020,7 @@ xref: MESH:C562746 {source="MONDO:equivalentTo"} xref: OMIM:608051 {source="MONDO:equivalentTo", source="Orphanet:319640", source="Orphanet:319640/e"} xref: Orphanet:319640 {source="OMIM:608051", source="MONDO:equivalentTo"} xref: UMLS:C4749334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1666864"} -is_a: MONDO:0031166 {source="OMIM:608051"} ! macular dystrophy, retinal +is_a: MONDO:0031166 {source="DOID:0070517", source="OMIM:608051"} ! macular dystrophy, retinal relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 [Term] @@ -270719,7 +271064,7 @@ xref: Orphanet:3243 {source="MONDO:equivalentTo", source="OMIM:608068"} xref: SCTID:84625002 {source="MONDO:equivalentTo"} xref: UMLS:C0085077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:43097"} is_a: MONDO:0002254 {source="NCIT:C85177"} ! syndromic disease -is_a: MONDO:0005093 {source="MONDO:0019546-obsoleted"} ! skin disorder +is_a: MONDO:0005093 {source="DOID:0080746", source="MONDO:0019546-obsoleted"} ! skin disorder is_a: MONDO:0005554 {source="Orphanet:3243"} ! rheumatic disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015940"} ! rare @@ -270871,7 +271216,7 @@ xref: OMIM:608093 {source="Orphanet:86309/e", source="MONDO:equivalentTo", sourc xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"} xref: SCTID:725079003 {source="MONDO:equivalentTo"} xref: UMLS:C2931004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419694"} -is_a: MONDO:0005500 {source="DC-OMIM:608093"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:608093", source="DOID:0080562", source="OMIM:608093"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535748", source="MONDO:0011964/inferred", source="MONDO:Redundant", source="NCIT:C126874", source="OMIM:608093", source="Orphanet:86309/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -270918,7 +271263,7 @@ xref: OMIM:608097 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:608097"} xref: Orphanet:98892 {source="OMIM:608097"} xref: UMLS:C1842563 {source="MEDGEN:334110", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020341 {source="DC-OMIM:608097", source="MESH:C564292"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:608097", source="MESH:C564292", source="OMIM:608097"} ! periventricular nodular heterotopia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15853 {source="MONDO:mim2gene_medgen"} ! ARFGEF2 [Term] @@ -270936,7 +271281,7 @@ xref: OMIM:608098 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:608098"} xref: Orphanet:98892 {source="OMIM:608098"} xref: UMLS:C1842562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374963"} -is_a: MONDO:0020341 {source="DC-OMIM:608098", source="MESH:C564291"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:608098", source="MESH:C564291", source="OMIM:608098"} ! periventricular nodular heterotopia [Term] id: MONDO:0011968 @@ -270973,7 +271318,7 @@ xref: Orphanet:62 {source="MONDO:equivalentTo", source="OMIM:608099", source="DO xref: SCTID:715340002 {source="MONDO:equivalentTo"} xref: UMLS:C2936332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:424706"} is_a: MONDO:0015152 {source="DOID:0110278", source="MONDO:Redundant", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy -is_a: MONDO:0016141 {source="Orphanet:207060"} ! qualitative or quantitative defects of alpha-sarcoglycan +is_a: MONDO:0016141 {source="Orphanet:207060", source="Orphanet:62"} ! qualitative or quantitative defects of alpha-sarcoglycan is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0016971 {source="DOID:0110278/inferred", source="MONDO:Redundant", source="NCIT:C142081", source="Orphanet:62/inferred"} ! limb-girdle muscular dystrophy is_a: MONDO:0019056 ! neuromuscular disease @@ -271015,7 +271360,7 @@ xref: Orphanet:79325 {source="MONDO:equivalentTo", source="OMIM:608104"} xref: SCTID:720977000 {source="MONDO:equivalentTo"} xref: UMLS:C2931002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419692"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:608104"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:608104", source="DOID:0080560", source="OMIM:608104"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", source="MONDO:Redundant", source="OMIM:608104", source="Orphanet:79325/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation relationship: excluded_subClassOf MONDO:0019743 {source="MONDO:0018294-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease @@ -271076,7 +271421,7 @@ xref: OMIM:608106 {source="MONDO:equivalentTo", source="Orphanet:101092", source xref: Orphanet:101092 {source="OMIM:608106", source="MONDO:equivalentTo", source="DOID:0060759"} xref: Orphanet:183666 {source="OMIM:608106", source="DOID:0060759"} xref: UMLS:C1720958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:328420"} -is_a: MONDO:0003947 {source="MONDO:Redundant", source="OMIM:608106"} ! hyper-IgM syndrome +is_a: MONDO:0003947 {source="DOID:0060759", source="MONDO:Redundant", source="OMIM:608106"} ! hyper-IgM syndrome intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 ! UNG relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12572 {source="MONDO:mim2gene_medgen"} ! UNG @@ -271411,7 +271756,7 @@ xref: OMIM:608184 {source="DOID:0060760", source="MONDO:equivalentTo", source="O xref: Orphanet:101091 {source="DOID:0060760", source="MONDO:equivalentTo", source="OMIM:608184"} xref: Orphanet:183666 {source="DOID:0060760", source="OMIM:608184"} xref: UMLS:C1842413 {source="MEDGEN:330847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003947 {source="MESH:C564277", source="MONDO:Redundant", source="OMIM:608184"} ! hyper-IgM syndrome +is_a: MONDO:0003947 {source="DOID:0060760", source="MESH:C564277", source="MONDO:Redundant", source="OMIM:608184"} ! hyper-IgM syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4" xsd:anyURI {source="GARD:0010580"} [Term] @@ -271461,7 +271806,7 @@ xref: MEDGEN:413025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567698 {source="MONDO:equivalentTo"} xref: OMIM:608194 {source="MONDO:equivalentTo", source="DOID:0111016"} xref: UMLS:C2750720 {source="MEDGEN:413025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:608194", source="DOID:0111016", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:608194", source="DOID:0111016", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:608194"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 ! RPGRIP1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13436 {source="MONDO:mim2gene_medgen"} ! RPGRIP1 @@ -271532,7 +271877,7 @@ xref: SCTID:187511000 {source="DOID:9065"} xref: SCTID:266206004 {source="DOID:9065"} xref: SCTID:80612004 {source="MONDO:equivalentTo", source="DOID:9065", source="EFO:0005044"} xref: UMLS:C0023281 {source="MONDO:equivalentTo", source="MEDGEN:9714", source="MONDO:MEDGEN"} -is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease +is_a: MONDO:0002428 {source="DOID:9065", source="ICD10CM:B55", source="MESH:D007896/inferred"} ! protozoa infectious disease is_a: MONDO:0005135 {source="DOID:9065/inferred", source="EFO:0005044", source="MESH:D007896/inferred", source="MONDO:Redundant", source="NCIT:C34767", source="Orphanet:507"} ! parasitic infectious disease is_a: MONDO:0100120 {source="https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases"} ! vector-borne disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015577"} ! rare @@ -271821,7 +272166,7 @@ xref: OMIM:608244 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608244"} xref: UMLS:C1842353 {source="MEDGEN:334054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:608244", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:608244", source="DOID:0060922", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis [Term] id: MONDO:0012000 @@ -272203,7 +272548,7 @@ xref: MESH:C537855 {source="MONDO:equivalentTo"} xref: OMIM:608345 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:608345"} xref: UMLS:C1842186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374873"} -is_a: MONDO:0005712 {source="DC-OMIM:608345", source="MESH:C537855", source="OMIM:608345"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:608345", source="DOID:0111793", source="MESH:C537855", source="OMIM:608345"} ! congenital nystagmus [Term] id: MONDO:0012016 @@ -272277,7 +272622,7 @@ xref: OMIM:608361 {source="Orphanet:93283/e", source="MONDO:equivalentTo", sourc xref: Orphanet:93283 {source="MONDO:equivalentTo", source="OMIM:608361"} xref: SCTID:719203001 {source="MONDO:equivalentTo"} xref: UMLS:C1842149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330777"} -is_a: MONDO:0016761 {source="Orphanet:93283"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112282", source="Orphanet:93283"} ! spondyloepiphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/319 {source="MONDO:mim2gene_medgen"} ! ACAN property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -272347,7 +272692,7 @@ xref: MESH:C564251 {source="MONDO:equivalentTo"} xref: OMIM:608371 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:608371"} xref: UMLS:C1842143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331228"} -is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608371"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080398", source="MONDO:Redundant", source="OMIM:608371"} ! orofacial cleft relationship: has_characteristic MONDO:0021128 ! has an isolated presentation [Term] @@ -272421,7 +272766,7 @@ xref: MESH:C564248 {source="MONDO:equivalentTo"} xref: OMIM:608389 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:608389"} xref: UMLS:C1842124 {source="MEDGEN:333995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018878 {source="DC-OMIM:608389", source="MONDO:Redundant"} ! branchiootic syndrome +is_a: MONDO:0018878 {source="DC-OMIM:608389", source="MONDO:Redundant", source="OMIM:608389"} ! branchiootic syndrome intersection_of: MONDO:0018878 ! branchiootic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 ! SIX1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10887 {source="MONDO:mim2gene_medgen"} ! SIX1 @@ -272531,7 +272876,7 @@ xref: MEDGEN:374856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564245 {source="MONDO:equivalentTo"} xref: OMIM:608404 {source="MONDO:equivalentTo", source="DOID:0111046"} xref: UMLS:C1842090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374856"} -is_a: MONDO:0000009 {source="DC-OMIM:608404", source="MONDO:Redundant", source="OMIM:608404"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:608404", source="DOID:0111046", source="MONDO:Redundant", source="OMIM:608404"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0001531 {source="DOID:0111046", source="MONDO:Redundant"} ! blood coagulation disease is_a: MONDO:0003847 {source="MESH:C564245", source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type @@ -272679,7 +273024,7 @@ xref: MESH:C563929 {source="MONDO:equivalentTo"} xref: OMIM:608443 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:608443"} xref: UMLS:C1838023 {source="MEDGEN:373870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:608443", source="MONDO:Redundant", source="OMIM:608443"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:608443", source="DOID:0081179", source="MONDO:Redundant", source="OMIM:608443"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 ! CC2D1A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30237 {source="MONDO:mim2gene_medgen"} ! CC2D1A @@ -272763,9 +273108,9 @@ xref: OMIM:608456 {source="Orphanet:247798", source="MONDO:equivalentTo", source xref: Orphanet:220460 {source="OMIM:608456"} xref: Orphanet:247798 {source="MONDO:equivalentTo", source="OMIM:608456"} xref: UMLS:C3272841 {source="MEDGEN:474474", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:0080410", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0016362 {source="Orphanet:247798"} ! attenuated familial adenomatous polyposis -is_a: MONDO:0021055 {source="OMIM:608456"} ! classic familial adenomatous polyposis +is_a: MONDO:0021055 {source="DOID:0080410", source="OMIM:608456"} ! classic familial adenomatous polyposis relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:608456", source="Orphanet:247798"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7527 {source="MONDO:mim2gene_medgen"} ! MUTYH property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI @@ -272934,7 +273279,7 @@ xref: MESH:C563104 {source="DOID:0060377", source="MONDO:equivalentTo"} xref: OMIM:608518 {source="DOID:0060377", source="MONDO:equivalentTo"} xref: Orphanet:90649 {source="MONDO:equivalentObsolete", source="OMIM:608518", source="DOID:0060377"} xref: UMLS:C0796100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:162907"} -is_a: MONDO:0015375 {source="DC-OMIM:608518", source="DOID:0060377", source="MESH:C563104"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:608518", source="DOID:0060377", source="MESH:C563104", source="OMIM:608518"} ! orofaciodigital syndrome [Term] id: MONDO:0012050 @@ -272998,7 +273343,7 @@ xref: OMIM:608540 {source="Orphanet:79327", source="MONDO:equivalentTo", source= xref: Orphanet:79327 {source="MONDO:equivalentTo", source="OMIM:608540"} xref: SCTID:720941007 {source="MONDO:equivalentTo"} xref: UMLS:C2931005 {source="MEDGEN:419308", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:608540"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:608540", source="DOID:0080563", source="OMIM:608540"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535749", source="MONDO:0012052/inferred", source="MONDO:Redundant", source="OMIM:608540", source="Orphanet:79327/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -273019,7 +273364,7 @@ xref: MESH:C536360 {source="MONDO:equivalentTo"} xref: OMIM:608542 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:608542"} xref: UMLS:C1837894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325285"} -is_a: MONDO:0016483 {source="DC-OMIM:608542", source="OMIM:608542"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:608542", source="DOID:0080965", source="OMIM:608542"} ! intracranial berry aneurysm [Term] id: MONDO:0012054 @@ -273409,7 +273754,7 @@ xref: OMIM:608600 {source="MONDO:equivalentTo", source="Orphanet:79084", source= xref: Orphanet:79084 {source="MONDO:equivalentTo", source="OMIM:608600"} xref: SCTID:725035001 {source="MONDO:equivalentTo"} xref: UMLS:C1720859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318591"} -is_a: MONDO:0020088 {source="DC-OMIM:608600", source="OMIM:608600", source="Orphanet:79084"} ! familial partial lipodystrophy +is_a: MONDO:0020088 {source="DC-OMIM:608600", source="DOID:0070207", source="OMIM:608600", source="Orphanet:79084"} ! familial partial lipodystrophy [Term] id: MONDO:0012073 @@ -273458,7 +273803,7 @@ xref: OMIM:608612 {source="Orphanet:90154", source="MONDO:equivalentTo", source= xref: Orphanet:2457 {source="OMIM:608612"} xref: Orphanet:90154 {source="OMIM:608612", source="MONDO:equivalentTo"} xref: UMLS:C1837756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332940"} -is_a: MONDO:0016584 {source="DC-OMIM:608612", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia +is_a: MONDO:0016584 {source="DC-OMIM:608612", source="DOID:0081129", source="OMIM:608612", source="Orphanet:90154"} ! mandibuloacral dysplasia is_a: MONDO:0019707 {source="PMID:31633310"} ! primary osteolysis is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12877 {source="MONDO:mim2gene_medgen"} ! ZMPSTE24 @@ -274335,7 +274680,7 @@ xref: MEDGEN:373344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563871 {source="MONDO:equivalentTo"} xref: OMIM:608716 {source="MONDO:equivalentTo"} xref: UMLS:C1837501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373344"} -is_a: MONDO:0016660 {source="DC-OMIM:608716", source="MONDO:Redundant", source="OMIM:608716"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:608716", source="DOID:0070280", source="MONDO:Redundant", source="OMIM:608716"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 ! ASPM relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19048 {source="MONDO:mim2gene_medgen"} ! ASPM @@ -274454,7 +274799,7 @@ xref: OMIM:608751 {source="DOID:0110314", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:608751"} xref: UMLS:C1837471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324806"} is_a: MONDO:0005045 {source="DC-OMIM:608751", source="DOID:0110314", source="MESH:C563866/inferred", source="MONDO:Redundant", source="OMIM:608751"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C563866", source="MONDO:OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110314", source="MESH:C563866", source="MONDO:OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 ! MYL3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7584 {source="MONDO:mim2gene_medgen"} ! MYL3 @@ -274485,7 +274830,7 @@ xref: OMIM:608758 {source="DOID:0110316", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:608758"} xref: UMLS:C1834460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331754"} is_a: MONDO:0005045 {source="DC-OMIM:608758", source="DOID:0110316", source="MESH:C563865/inferred", source="MONDO:Redundant", source="OMIM:608758"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C563865", source="MONDO:OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110316", source="MESH:C563865", source="MONDO:OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 ! MYL2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7583 {source="MONDO:mim2gene_medgen"} ! MYL2 @@ -274594,7 +274939,7 @@ xref: Orphanet:79328 {source="MONDO:equivalentTo", source="OMIM:608776"} xref: SCTID:720978005 {source="MONDO:equivalentTo"} xref: UMLS:C2931006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443955"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:608776"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:608776", source="DOID:0080564", source="OMIM:608776"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535750", source="MONDO:0012117/inferred", source="MONDO:Redundant", source="OMIM:608776", source="Orphanet:79328/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare @@ -274633,7 +274978,7 @@ xref: Orphanet:79333 {source="OMIM:608779", source="MONDO:equivalentTo"} xref: SCTID:717773005 {source="MONDO:equivalentTo"} xref: UMLS:C2931010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419311"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005501 {source="DC-OMIM:608779", source="OMIM:608779"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:608779", source="DOID:0070257", source="OMIM:608779"} ! congenital disorder of glycosylation type II is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017750 {source="Orphanet:79333"} ! defect in conserved oligomeric Golgi complex relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder @@ -274701,7 +275046,7 @@ xref: OMIM:608787 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608787"} xref: UMLS:C1837422 {source="MEDGEN:325168", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:608787", source="DOID:0060924", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis [Term] id: MONDO:0012122 @@ -274757,7 +275102,7 @@ xref: OMIM:608799 {source="Orphanet:79322/e", source="MONDO:equivalentTo", sourc xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"} xref: SCTID:725078006 {source="MONDO:equivalentTo"} xref: UMLS:C1837396 {source="MEDGEN:324784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:608799"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:608799", source="DOID:0080557", source="OMIM:608799"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535743", source="MONDO:0012123/inferred", source="MONDO:Redundant", source="NCIT:C126871", source="OMIM:608799", source="Orphanet:79322/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation intersection_of: MONDO:0015286 ! congenital disorder of glycosylation @@ -275152,7 +275497,7 @@ xref: OMIM:608840 {source="DOID:0110637", source="MONDO:equivalentTo"} xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:608840"} xref: Orphanet:98894 {source="DOID:0110637", source="MONDO:equivalentObsolete", source="OMIM:608840"} xref: UMLS:C1837229 {source="MEDGEN:373284", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000172 {source="DC-OMIM:608840", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DC-OMIM:608840", source="DOID:0110637", source="OMIM:608840"} ! muscular dystrophy-dystroglycanopathy, type B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6511 {source="MONDO:mim2gene_medgen"} ! LARGE1 [Term] @@ -275169,7 +275514,7 @@ xref: DOID:0070440 {source="MONDO:equivalentTo"} xref: MEDGEN:854716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608850 {source="MONDO:equivalentTo"} xref: UMLS:C3888009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854716"} -is_a: MONDO:0031166 {source="OMIM:608850"} ! macular dystrophy, retinal +is_a: MONDO:0031166 {source="DOID:0070440", source="OMIM:608850"} ! macular dystrophy, retinal [Term] id: MONDO:0012140 @@ -275646,7 +275991,7 @@ xref: MESH:C563825 {source="MONDO:equivalentTo"} xref: OMIM:608940 {source="Orphanet:85167", source="MONDO:equivalentTo", source="Orphanet:85167/e"} xref: Orphanet:85167 {source="MONDO:equivalentTo", source="OMIM:608940"} xref: UMLS:C1837073 {source="MEDGEN:324684", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="Orphanet:85167", source="PMID:31633310"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DOID:0112300", source="Orphanet:85167", source="PMID:31633310"} ! spondylometaphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8754 {source="MONDO:mim2gene_medgen"} ! PCYT1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -275729,7 +276074,7 @@ xref: Orphanet:169154 {source="DOID:0090014", source="MONDO:directSiblingOf", so xref: Orphanet:169157 {source="MONDO:directSiblingOf", source="OMIM:608971"} xref: Orphanet:169160 {source="MONDO:relatedTo", source="OMIM:608971"} xref: UMLS:C5676890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1801019"} -is_a: MONDO:0031520 {source="DOID:0090014"} ! familial severe combined immunodeficiency +is_a: MONDO:0031520 {source="DOID:0090014", source="OMIM:608971"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6024 {source="OMIM:608971"} ! IL7R property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -275813,6 +276158,7 @@ xref: MEDGEN:332346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608984 {source="DOID:0111170", source="MONDO:equivalentTo"} xref: UMLS:C1837015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332346"} is_a: MONDO:0003847 {source="OMIM:608984"} ! hereditary disease +is_a: MONDO:0100309 {source="DOID:0111170"} ! hereditary ataxia is_a: MONDO:0100311 {source="https://orcid.org/0000-0001-5208-3432"} ! sensory ataxia intersection_of: MONDO:0100311 ! sensory ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25358 ! RNF170 @@ -275945,7 +276291,7 @@ xref: OMIMPS:609015 {source="MONDO:equivalentTo"} xref: Orphanet:746 {source="MONDO:equivalentTo", source="OMIM:609015"} xref: SCTID:237999008 {source="MONDO:equivalentTo"} xref: UMLS:C1969443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370665"} -is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C98991"} ! inherited lipid metabolism disorder +is_a: MONDO:0002525 {source="DOID:0111277", source="MONDO:Redundant", source="NCIT:C98991"} ! inherited lipid metabolism disorder is_a: MONDO:0009637 {source="Orphanet:746"} ! inborn mitochondrial myopathy relationship: excluded_subClassOf MONDO:0012173 {source="https://orcid.org/0000-0001-5208-3432"} ! long chain 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609015"} ! inherited @@ -276190,6 +276536,7 @@ xref: OMIM:609048 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:609048"} xref: UMLS:C1836892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373202"} is_a: MONDO:0020573 {source="OMIM:609048"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:609048"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1773 ! CDK4 intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -276254,7 +276601,7 @@ xref: MESH:C563803 {source="MONDO:equivalentTo"} xref: OMIM:609052 {source="Orphanet:168555", source="MONDO:equivalentTo", source="Orphanet:168555/e"} xref: Orphanet:168555 {source="OMIM:609052", source="MONDO:equivalentTo"} xref: UMLS:C1836862 {source="MEDGEN:324620", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="DC-OMIM:609052", source="Orphanet:168555"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:609052", source="DOID:0112301", source="OMIM:609052", source="Orphanet:168555"} ! spondylometaphyseal dysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4" xsd:anyURI {source="GARD:0000458"} [Term] @@ -276394,7 +276741,7 @@ xref: OMIM:609060 {source="Orphanet:137681/e", source="MONDO:equivalentTo", sour xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"} xref: SCTID:764962002 {source="MONDO:equivalentTo"} xref: UMLS:C1836797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322999"} -is_a: MONDO:0000732 {source="DC-OMIM:609060", source="MONDO:Redundant", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:609060", source="DOID:0111474", source="MONDO:Redundant", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0005066 {source="MESH:C563797/inferred", source="NCIT:C125663", source="Orphanet:137681", source="Orphanet:137681/inferred"} ! metabolic disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency @@ -276476,7 +276823,7 @@ xref: MESH:C563792 {source="MONDO:equivalentTo"} xref: OMIM:609122 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:609122"} xref: UMLS:C1836757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332280"} -is_a: MONDO:0016483 {source="DC-OMIM:609122", source="OMIM:609122"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:609122", source="DOID:0080966", source="OMIM:609122"} ! intracranial berry aneurysm [Term] id: MONDO:0012195 @@ -276504,7 +276851,7 @@ xref: OMIM:609128 {source="Orphanet:65720", source="MONDO:equivalentTo", source= xref: Orphanet:65720 {source="MONDO:equivalentTo", source="OMIM:609128"} xref: SCTID:715575001 {source="MONDO:equivalentTo"} xref: UMLS:C1836756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373169"} -is_a: MONDO:0019942 {source="DC-OMIM:609128", source="Orphanet:65720"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:609128", source="DOID:0111610", source="OMIM:609128", source="Orphanet:65720"} ! distal arthrogryposis [Term] id: MONDO:0012196 @@ -276600,7 +276947,7 @@ xref: OMIM:609136 {source="Orphanet:163746/e", source="DOID:0090111", source="MO xref: Orphanet:163746 {source="DOID:0090111", source="MONDO:equivalentTo", source="OMIM:609136"} xref: UMLS:C1836727 {source="MEDGEN:373160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0090111", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0090111", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0019046 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy relationship: excluded_subClassOf MONDO:0019290 {source="Orphanet:163746", source="https://orcid.org/0000-0001-5208-3432"} ! hypopigmentation of the skin @@ -276714,7 +277061,7 @@ xref: MESH:C563786 {source="MONDO:equivalentTo"} xref: OMIM:609152 {source="Orphanet:424", source="MONDO:equivalentTo", source="Orphanet:424/e"} xref: Orphanet:424 {source="MONDO:equivalentTo", source="OMIM:609152"} xref: UMLS:C1836706 {source="MONDO:equivalentTo", source="MEDGEN:373154", source="MONDO:MEDGEN"} -is_a: MONDO:0004425 {source="Orphanet:424"} ! hyperthyroidism +is_a: MONDO:0004425 {source="DOID:0081101", source="Orphanet:424"} ! hyperthyroidism relationship: has_characteristic MONDO:0021136 {source="MONDO:0015894"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12373 {source="MONDO:mim2gene_medgen"} ! TSHR @@ -276892,7 +277239,7 @@ synonym: "migraine with aura, susceptibility to, type 7" EXACT [MONDORULE:1, OMI xref: MEDGEN:373145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609179 {source="MONDO:equivalentTo"} xref: UMLS:C1836670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373145"} -is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="OMIM:609179"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0012211 @@ -276928,7 +277275,7 @@ xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"} xref: SCTID:724096007 {source="MONDO:equivalentTo"} xref: UMLS:C1836669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322968"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:609180"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:609180", source="DOID:0080558", source="OMIM:609180"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535744", source="MONDO:0012211/inferred", source="MONDO:Redundant", source="NCIT:C126872", source="OMIM:609180", source="Orphanet:79323/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder @@ -276961,7 +277308,7 @@ xref: Orphanet:60030 {source="OMIM:609192"} xref: Orphanet:91387 {source="MONDO:relatedTo", source="OMIM:609192"} xref: Orphanet:97295 {source="OMIM:609192", source="MONDO:equivalentObsolete"} xref: UMLS:C4551955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646567"} -is_a: MONDO:0018954 {source="DC-OMIM:609192", source="MONDO:Redundant", source="NCIT:C75119", source="OMIM:609192"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DC-OMIM:609192", source="DOID:0070235", source="MONDO:Redundant", source="NCIT:C75119", source="OMIM:609192"} ! Loeys-Dietz syndrome intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11772 ! TGFBR1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:609192"} ! Autosomal dominant inheritance @@ -277073,7 +277420,7 @@ is_a: MONDO:0002921 {source="MESH:C000598645", source="MONDO:Redundant", source= is_a: MONDO:0005336 {source="DOID:0080094", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy is_a: MONDO:0015151 {source="DOID:0110300", source="MONDO:Redundant", source="OMIM:159000", source="Orphanet:266"} ! muscular dystrophy, limb-girdle, autosomal dominant is_a: MONDO:0016108 {source="MONDO:Redundant", source="Orphanet:98911"} ! autosomal dominant distal myopathy -is_a: MONDO:0018943 {source="OMIM:182920", source="OMIM:609200", source="Orphanet:268129", source="Orphanet:98911"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080094", source="OMIM:182920", source="OMIM:609200", source="Orphanet:268129", source="Orphanet:98911"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12399 ! MYOT relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -277136,7 +277483,7 @@ xref: MESH:C537407 {source="MONDO:equivalentTo"} xref: OMIM:609220 {source="MONDO:equivalentTo"} xref: Orphanet:2771 {source="OMIM:609220"} xref: UMLS:C1836602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373129"} -is_a: MONDO:0017195 {source="DC-OMIM:609220", source="MONDO:Redundant"} ! Bruck syndrome +is_a: MONDO:0017195 {source="DC-OMIM:609220", source="MONDO:Redundant", source="OMIM:609220"} ! Bruck syndrome is_a: MONDO:0800064 {source="PMID:31633310"} ! osteogenesis imperfecta and a reduction of bone mineral density. intersection_of: MONDO:0017195 ! Bruck syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9082 ! PLOD2 @@ -277166,7 +277513,7 @@ xref: MEDGEN:373126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563772 {source="MONDO:equivalentTo"} xref: OMIM:609223 {source="MONDO:equivalentTo"} xref: UMLS:C1836584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373126"} -is_a: MONDO:0019667 {source="OMIM:609223", source="https://github.com/monarch-initiative/mondo/issues/962", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia tarda +is_a: MONDO:0019667 {source="DOID:0112291", source="OMIM:609223", source="https://github.com/monarch-initiative/mondo/issues/962", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia tarda relationship: excluded_subClassOf MONDO:0007738 {source="DC-OMIM:609223", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia with congenital joint dislocations [Term] @@ -277236,7 +277583,7 @@ xref: Orphanet:3137 {source="OMIM:609241"} xref: Orphanet:79279 {source="GARD:0000116", source="MONDO:equivalentTo", source="OMIM:609241"} xref: Orphanet:79281 {source="OMIM:609241", source="MONDO:directSiblingOf"} xref: UMLS:C1836544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373113"} -is_a: MONDO:0017779 {source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency +is_a: MONDO:0017779 {source="DOID:0112318", source="Orphanet:79279"} ! alpha-N-acetylgalactosaminidase deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -277269,7 +277616,7 @@ xref: OMIM:609242 {source="Orphanet:79280", source="MONDO:equivalentTo", source= xref: Orphanet:3137 {source="OMIM:609242"} xref: Orphanet:79280 {source="MONDO:equivalentTo", source="OMIM:609242"} xref: UMLS:C1836522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324539"} -is_a: MONDO:0017779 {source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency +is_a: MONDO:0017779 {source="DOID:0112319", source="Orphanet:79280"} ! alpha-N-acetylgalactosaminidase deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7631 {source="MONDO:mim2gene_medgen"} ! NAGA [Term] @@ -277294,7 +277641,7 @@ xref: MEDGEN:373107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563764 {source="MONDO:equivalentTo"} xref: OMIM:609253 {source="MONDO:equivalentTo"} xref: UMLS:C1836518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373107"} -is_a: MONDO:0000032 {source="DC-OMIM:609253", source="OMIM:609253"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:609253", source="DOID:0111309", source="OMIM:609253"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -277333,7 +277680,7 @@ xref: MEDGEN:322934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563762 {source="MONDO:equivalentTo"} xref: OMIM:609255 {source="MONDO:equivalentTo"} xref: UMLS:C1836507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322934"} -is_a: MONDO:0000032 {source="DC-OMIM:609255", source="OMIM:609255"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:609255", source="DOID:0111306", source="OMIM:609255"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -277495,7 +277842,7 @@ xref: MESH:C563753 {source="MONDO:equivalentTo"} xref: OMIM:609270 {source="DOID:0080059", source="MONDO:equivalentTo", source="Orphanet:284324", source="Orphanet:284324/e"} xref: Orphanet:284324 {source="OMIM:609270", source="MONDO:equivalentTo"} xref: UMLS:C1836474 {source="MEDGEN:324520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="DOID:0080059", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080059", source="OMIM:609270", source="Orphanet:284324"} ! autosomal recessive cerebellar ataxia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7" xsd:anyURI {source="GARD:0012232"} [Term] @@ -277722,7 +278069,7 @@ xref: OMIM:609304 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="OMIM:609304"} xref: UMLS:C5574665 {source="MEDGEN:1801135", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy -is_a: MONDO:0100062 {source="DC-OMIM:609304", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:609304", source="DOID:0080440", source="MONDO:Redundant", source="OMIM:609304"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 ! SLC25A22 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19954 {source="MONDO:mim2gene_medgen"} ! SLC25A22 @@ -277920,7 +278267,7 @@ xref: OMIM:609313 {source="Orphanet:171851/e", source="DOID:0060483", source="MO xref: Orphanet:171851 {source="DOID:0060483", source="MONDO:equivalentTo", source="OMIM:609313"} xref: SCTID:722035007 {source="MONDO:equivalentTo"} xref: UMLS:C1836330 {source="MEDGEN:322893", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060483", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0017762 {source="Orphanet:171851"} ! disorder of copper metabolism is_a: MONDO:0019270 {source="Orphanet:171851"} ! erythrokeratoderma relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:171851", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -278091,7 +278438,7 @@ xref: OMIM:609352 {source="Orphanet:158681/e", source="MONDO:equivalentTo", sour xref: Orphanet:158681 {source="MONDO:equivalentTo", source="OMIM:609352"} xref: SCTID:716700003 {source="MONDO:equivalentTo"} xref: UMLS:C1836284 {source="MEDGEN:324475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:609352", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6442 {source="MONDO:mim2gene_medgen"} ! KRT5 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -278149,7 +278496,7 @@ xref: MEDGEN:324472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609378 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:609378"} xref: UMLS:C1836271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324472"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:609378"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -278169,7 +278516,7 @@ xref: MESH:C567666 {source="MONDO:equivalentTo"} xref: OMIM:609384 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609384"} xref: UMLS:C2750404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412956"} -is_a: MONDO:0007614 {source="OMIM:609384", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081019", source="OMIM:609384", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -278354,7 +278701,7 @@ xref: MESH:C536925 {source="MONDO:equivalentTo"} xref: OMIM:609428 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:609428"} xref: UMLS:C1836217 {source="MEDGEN:332153", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007614 {source="OMIM:609428", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081021", source="OMIM:609428", source="Orphanet:45358/btnt"} ! congenital fibrosis of extraocular muscles [Term] id: MONDO:0012271 @@ -278448,7 +278795,7 @@ xref: MEDGEN:904735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537913 {source="MONDO:equivalentTo"} xref: OMIM:609441 {source="GARD:0010077", source="MONDO:equivalentTo"} xref: UMLS:C4225404 {source="MEDGEN:904735", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019696 {source="PMID:31633310"} ! acromesomelic dysplasia +is_a: MONDO:0019696 {source="DOID:0081237", source="OMIM:609441", source="PMID:31633310"} ! acromesomelic dysplasia intersection_of: MONDO:0019696 ! acromesomelic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 ! BMPR1B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1077 {source="MONDO:mim2gene_medgen"} ! BMPR1B @@ -278552,7 +278899,7 @@ xref: UMLS:C4721886 {source="MONDO:equivalentTo", source="MEDGEN:1648314", sourc is_a: MONDO:0005336 {source="DOID:0080095", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy is_a: MONDO:0016108 {source="Orphanet:98912"} ! autosomal dominant distal myopathy is_a: MONDO:0016190 {source="Orphanet:98912"} ! qualitative or quantitative defects of protein ZASP -is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080095", source="MONDO:Redundant", source="OMIM:609452", source="Orphanet:98912"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 ! LDB3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15710 {source="MONDO:mim2gene_medgen"} ! LDB3 @@ -278607,7 +278954,7 @@ xref: OMIM:609460 {source="MONDO:equivalentTo", source="Orphanet:66629", source= xref: Orphanet:66629 {source="MONDO:equivalentTo", source="OMIM:609460", source="DOID:0060481"} xref: SCTID:717822006 {source="MONDO:equivalentTo"} xref: UMLS:C1836123 {source="MEDGEN:332131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060481", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:66629"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0021189 {source="Orphanet:66629"} ! intestinal motility disease relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:66629", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -278766,7 +279113,7 @@ xref: Orphanet:171445 {source="MONDO:equivalentTo", source="OMIM:609524"} xref: UMLS:C1836050 {source="MONDO:equivalentTo", source="MEDGEN:372186", source="MONDO:MEDGEN"} is_a: MONDO:0005336 {source="DOID:0080096", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy is_a: MONDO:0016189 {source="Orphanet:171445"} ! qualitative or quantitative defects of filamin C -is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:609524", source="Orphanet:171445"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080096", source="MONDO:Redundant", source="OMIM:609524", source="Orphanet:171445"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC @@ -278794,7 +279141,7 @@ xref: OMIM:609528 {source="Orphanet:66631", source="MONDO:equivalentTo", source= xref: Orphanet:66631 {source="OMIM:609528", source="MONDO:equivalentTo", source="DOID:0060337"} xref: SCTID:722385008 {source="MONDO:equivalentTo"} xref: UMLS:C1836033 {source="MONDO:equivalentTo", source="MEDGEN:332113", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060337", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0017666 {source="Orphanet:66631-generalized-by-cjm", source="Orphanet:66631/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/49"} ! diffuse palmoplantar keratoderma relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:66631", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -279016,7 +279363,7 @@ xref: MESH:C563700 {source="MONDO:equivalentTo"} xref: OMIM:609549 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:609549"} xref: UMLS:C1836006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372177"} -is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant"} ! nanophthalmia +is_a: MONDO:0005514 {source="DC-OMIM:609549", source="MONDO:Redundant", source="OMIM:609549"} ! nanophthalmia is_a: MONDO:0021129 {source="MESH:C563700", source="MONDO:Redundant", source="OMIM:609549", source="Orphanet:35612/btnt"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP @@ -279067,7 +279414,7 @@ xref: OMIM:609560 {source="DOID:0080120", source="MONDO:equivalentTo", source="O xref: Orphanet:254875 {source="MONDO:equivalentTo", source="OMIM:609560"} xref: SCTID:703527003 {source="MONDO:equivalentTo"} xref: UMLS:C3149750 {source="MEDGEN:461100", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018158 {source="DC-OMIM:609560", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:609560", source="DOID:0080120", source="OMIM:609560", source="Orphanet:254875"} ! mitochondrial DNA depletion syndrome is_a: MONDO:0019238 {source="Orphanet:254875"} ! inborn disorder of pyrimidine metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11831 {source="MONDO:mim2gene_medgen"} ! TK2 @@ -279098,7 +279445,7 @@ synonym: "migraine, susceptibility to, 8" EXACT [OMIM:609570, OMIM:genemap2] xref: MEDGEN:332101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609570 {source="MONDO:equivalentTo"} xref: UMLS:C1835968 {source="MEDGEN:332101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:609570", source="OMIM:609570/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:609570", source="OMIM:609570", source="OMIM:609570/inferred"} ! migraine with or without aura, susceptibility to property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -279477,7 +279824,7 @@ xref: MESH:C566500 {source="MONDO:equivalentTo"} xref: OMIM:609634 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:609634"} xref: UMLS:C1864987 {source="MEDGEN:400655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000700 {source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine +is_a: MONDO:0000700 {source="DOID:0111183", source="MONDO:Redundant", source="OMIM:609634", source="Orphanet:569/btnt"} ! familial hemiplegic migraine intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 ! SCN1A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="MONDO:mim2gene_medgen"} ! SCN1A @@ -279718,7 +280065,7 @@ synonym: "migraine with aura, susceptibility to, type 9" EXACT [MONDORULE:1, OMI xref: MEDGEN:400609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609670 {source="MONDO:equivalentTo"} xref: UMLS:C1864772 {source="MEDGEN:400609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="OMIM:609670"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0012332 @@ -280053,7 +280400,7 @@ xref: OMIM:609796 {source="MONDO:equivalentTo", source="Orphanet:263534", source xref: Orphanet:263534 {source="MONDO:equivalentTo", source="OMIM:609796"} xref: SCTID:709416009 {source="MONDO:equivalentTo"} xref: UMLS:C1853354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342862"} -is_a: MONDO:0019347 {source="DC-OMIM:609796", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome +is_a: MONDO:0019347 {source="DC-OMIM:609796", source="DOID:0070521", source="OMIM:609796", source="Orphanet:263534"} ! peeling skin syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11781 {source="MONDO:mim2gene_medgen"} ! TGM5 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome" xsd:anyURI {source="GARD:0012863"} @@ -280072,7 +280419,7 @@ xref: MESH:C565227 {source="MONDO:equivalentTo"} xref: OMIM:609800 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:609800"} xref: UMLS:C1853345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342858"} -is_a: MONDO:0018214 {source="DC-OMIM:609800", source="OMIM:609800"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:609800", source="DOID:0111293", source="OMIM:609800"} ! generalized epilepsy with febrile seizures plus [Term] id: MONDO:0012347 @@ -280270,7 +280617,7 @@ xref: OMIM:609821 {source="DOID:0060692", source="Orphanet:36355/e", source="MON xref: Orphanet:36355 {source="DOID:0060692", source="MONDO:equivalentTo", source="OMIM:609821"} xref: SCTID:725291001 {source="MONDO:equivalentTo"} xref: UMLS:C1853278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344008"} -is_a: MONDO:0000009 {source="DC-OMIM:609821", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:609821"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:609821", source="DOID:0060692", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:609821"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder [Term] @@ -280483,6 +280830,7 @@ xref: OMIM:609918 {source="MONDO:equivalentTo"} xref: UMLS:C1835925 {source="MEDGEN:372160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:609918", source="OMIM:609918"} ! gallbladder disorder +is_a: MONDO:0700225 {source="OMIM:609918"} ! hereditary gallbladder disorder [Term] id: MONDO:0012366 @@ -280495,6 +280843,7 @@ xref: OMIM:609919 {source="MONDO:equivalentTo"} xref: UMLS:C1835924 {source="MEDGEN:332087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:609919", source="OMIM:609919"} ! gallbladder disorder +is_a: MONDO:0700225 {source="OMIM:609919"} ! hereditary gallbladder disorder [Term] id: MONDO:0012367 @@ -280887,7 +281236,7 @@ xref: OMIM:609981 {source="MONDO:equivalentTo", source="Orphanet:75391", source= xref: Orphanet:75391 {source="MONDO:equivalentTo", source="OMIM:609981"} xref: SCTID:724275005 {source="MONDO:equivalentTo"} xref: UMLS:C1864947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351256"} -is_a: MONDO:0021094 {source="NCIT:C123729"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="NCIT:C123729", source="OMIM:609981"} ! immunodeficiency disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6947 {source="MONDO:mim2gene_medgen"} ! MCM4 [Term] @@ -281040,7 +281389,7 @@ xref: UMLS:C1864923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0015653 {source="Orphanet:1947"} ! monogenic epilepsy is_a: MONDO:0016295 {source="DC-OMIM:610003", source="DOID:0110724", source="OMIM:610003", source="Orphanet:1947"} ! neuronal ceroid lipofuscinosis -is_a: MONDO:0020074 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="Orphanet:1947", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! progressive myoclonus epilepsy relationship: excluded_subClassOf MONDO:0020074 {source="Orphanet:1947", source="https://orcid.org/0000-0001-5208-3432"} ! progressive myoclonus epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2079 {source="MONDO:mim2gene_medgen"} ! CLN8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI @@ -281133,7 +281482,7 @@ xref: MESH:C537380 {source="MONDO:equivalentTo"} xref: OMIM:610017 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:610017"} xref: UMLS:C1832708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331348"} -is_a: MONDO:0017923 {source="DC-OMIM:610017", source="MONDO:Redundant", source="OMIM:610017"} ! multiple synostoses syndrome +is_a: MONDO:0017923 {source="DC-OMIM:610017", source="DOID:0081318", source="MONDO:Redundant", source="OMIM:610017"} ! multiple synostoses syndrome intersection_of: MONDO:0017923 ! multiple synostoses syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 @@ -281413,7 +281762,7 @@ xref: MESH:C566451 {source="MONDO:equivalentTo"} xref: OMIM:610069 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="OMIM:610069"} xref: UMLS:C1864730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350500"} -is_a: MONDO:0011023 {source="MONDO:Redundant", source="Orphanet:157794/btnt"} ! hereditary mixed polyposis syndrome +is_a: MONDO:0011023 {source="DOID:0111686", source="MONDO:Redundant", source="OMIM:610069", source="Orphanet:157794/btnt"} ! hereditary mixed polyposis syndrome intersection_of: MONDO:0011023 ! hereditary mixed polyposis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 ! BMPR1A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1076 {source="MONDO:mim2gene_medgen"} ! BMPR1A @@ -281527,7 +281876,7 @@ xref: MESH:C566446 {source="MONDO:equivalentTo"} xref: OMIM:610093 {source="MONDO:equivalentTo", source="DOID:0060839"} xref: Orphanet:2542 {source="OMIM:610093", source="DOID:0060839"} xref: UMLS:C1864720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:351204"} -is_a: MONDO:0000062 {source="DC-OMIM:610093", source="MONDO:Redundant", source="OMIM:610093"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:610093", source="DOID:0060839", source="MONDO:Redundant", source="OMIM:610093"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1975 ! VSX2 @@ -281645,7 +281994,7 @@ xref: OMIM:610125 {source="Orphanet:178364", source="MONDO:equivalentTo", source xref: Orphanet:178364 {source="MONDO:equivalentTo", source="OMIM:610125"} xref: SCTID:718761007 {source="MONDO:equivalentTo"} xref: UMLS:C1864690 {source="MEDGEN:350491", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016073 {source="DC-OMIM:610125", source="MONDO:Redundant", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:610125", source="DOID:0111806", source="MONDO:Redundant", source="OMIM:610125", source="Orphanet:178364"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 ! OTX2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8522 {source="MONDO:mim2gene_medgen"} ! OTX2 @@ -281764,7 +282113,7 @@ xref: OMIM:610140 {source="Orphanet:168796", source="MONDO:equivalentTo", source xref: Orphanet:168796 {source="MONDO:equivalentTo", source="OMIM:610140"} xref: SCTID:721014007 {source="MONDO:equivalentTo"} xref: UMLS:C1857829 {source="MEDGEN:341859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016432 {source="https://orcid.org/0000-0002-6601-2165"} ! heart-hand syndrome +is_a: MONDO:0016432 {source="Orphanet:168796", source="https://orcid.org/0000-0002-6601-2165"} ! heart-hand syndrome relationship: disease_has_feature HP:0001644 {source="Orphanet:168796"} ! Dilated cardiomyopathy relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:168796", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610140", source="Orphanet:168796"} ! Autosomal dominant inheritance @@ -282023,7 +282372,7 @@ xref: Orphanet:558 {source="MONDO:relatedTo", source="OMIM:610168"} xref: Orphanet:60030 {source="OMIM:610168"} xref: Orphanet:91387 {source="MONDO:relatedTo", source="OMIM:610168"} xref: UMLS:C2674574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382398"} -is_a: MONDO:0018954 {source="DC-OMIM:610168", source="MESH:C537783", source="MONDO:Redundant", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DC-OMIM:610168", source="DOID:0070234", source="MESH:C537783", source="MONDO:Redundant", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11773 ! TGFBR2 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610168"} ! Autosomal dominant inheritance @@ -282379,7 +282728,7 @@ synonym: "migraine with pulsation" RELATED [OMIM:610208] xref: MEDGEN:341839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610208 {source="MONDO:equivalentTo"} xref: UMLS:C1857752 {source="MEDGEN:341839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:610208"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:610208", source="OMIM:610208"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0012441 @@ -282391,7 +282740,7 @@ synonym: "migraine with or without aura, susceptibility to, type 11" EXACT [MOND xref: MEDGEN:387900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610209 {source="MONDO:equivalentTo"} xref: UMLS:C1857751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387900"} -is_a: MONDO:0100246 {source="DC-OMIM:610209"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:610209", source="OMIM:610209"} ! migraine with or without aura, susceptibility to [Term] id: MONDO:0012442 @@ -282436,7 +282785,7 @@ xref: MEDGEN:341838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565700 {source="MONDO:equivalentTo"} xref: OMIM:610213 {source="MONDO:equivalentTo"} xref: UMLS:C1857749 {source="MEDGEN:341838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:610213", source="OMIM:610213"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:610213", source="DOID:0080967", source="OMIM:610213"} ! intracranial berry aneurysm [Term] id: MONDO:0012444 @@ -282781,7 +283130,7 @@ xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"} xref: SCTID:35387008 {source="MONDO:equivalentTo", source="DOID:11367"} xref: UMLS:C1853230 {source="MEDGEN:339935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred"} ! lens disorder -is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:610256", source="DOID:0080607", source="OMIM:610256"} ! anterior segment dysgenesis relationship: disease_has_major_feature HP:0007707 ! Congenital aphakia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3808 {source="MONDO:mim2gene_medgen"} ! FOXE3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -282938,7 +283287,7 @@ xref: MESH:C564597 {source="MONDO:equivalentTo"} xref: OMIM:610283 {source="DOID:0111017", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:610283"} xref: UMLS:C1846529 {source="MEDGEN:337598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:610283", source="DOID:0111017", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:610283", source="DOID:0111017", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:610283"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 ! SEMA4A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10729 {source="MONDO:mim2gene_medgen"} ! SEMA4A @@ -283198,7 +283547,7 @@ xref: OMIM:610356 {source="Orphanet:209932/e", source="MONDO:equivalentTo", sour xref: Orphanet:209932 {source="MONDO:equivalentTo", source="OMIM:610356"} xref: SCTID:719455002 {source="MONDO:equivalentTo"} xref: UMLS:C1835897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:332081"} -is_a: MONDO:0000455 {source="DC-OMIM:610356"} ! cone dystrophy +is_a: MONDO:0000455 {source="DC-OMIM:610356", source="DOID:0081022"} ! cone dystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19698 {source="MONDO:mim2gene_medgen"} ! KCNV2 [Term] @@ -283276,7 +283625,7 @@ xref: MESH:C563675 {source="MONDO:equivalentTo"} xref: OMIM:610361 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:610361"} xref: UMLS:C1835894 {source="MEDGEN:332079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:610361"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080402", source="MONDO:Redundant", source="OMIM:610361"} ! orofacial cleft relationship: has_characteristic MONDO:0021128 ! has an isolated presentation [Term] @@ -283418,7 +283767,7 @@ xref: MESH:C563671 {source="MONDO:equivalentTo"} xref: OMIM:610381 {source="DOID:0111018", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="OMIM:610381"} xref: UMLS:C1835865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322767"} -is_a: MONDO:0015993 {source="DC-OMIM:610381", source="DOID:0111018", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:610381", source="DOID:0111018", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:610381"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 ! RAX2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18286 {source="MONDO:mim2gene_medgen"} ! RAX2 @@ -283502,7 +283851,7 @@ xref: MESH:C563668 {source="MONDO:equivalentTo"} xref: OMIM:610422 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:610422"} xref: UMLS:C1835852 {source="MONDO:equivalentTo", source="MEDGEN:372142", source="MONDO:MEDGEN"} -is_a: MONDO:0008756 {source="OMIM:610422"} ! alopecia - intellectual disability syndrome +is_a: MONDO:0008756 {source="DOID:0080629", source="OMIM:610422"} ! alopecia - intellectual disability syndrome [Term] id: MONDO:0012488 @@ -283585,7 +283934,7 @@ xref: MEDGEN:355856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610430 {source="MONDO:equivalentTo"} xref: Orphanet:33226 {source="OMIM:610430"} xref: UMLS:C1864876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355856"} -is_a: MONDO:0100280 {source="Orphanet:33226/btnt"} ! Waldenstrom macroglobulinemia +is_a: MONDO:0100280 {source="OMIM:610430", source="Orphanet:33226/btnt"} ! Waldenstrom macroglobulinemia [Term] id: MONDO:0012492 @@ -283662,7 +284011,7 @@ xref: MESH:C535785 {source="Orphanet:168454", source="MONDO:equivalentTo", sourc xref: OMIM:610442 {source="Orphanet:168454", source="MONDO:equivalentTo", source="Orphanet:168454/e"} xref: Orphanet:168454 {source="OMIM:610442", source="MONDO:equivalentTo"} xref: UMLS:C1864872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355314"} -is_a: MONDO:0100510 {source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0080576", source="PMID:31633310", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DC-OMIM:610442", source="Orphanet:168454", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19237 {source="MONDO:mim2gene_medgen"} ! NANS property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -283726,6 +284075,7 @@ xref: MEDGEN:355313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566475 {source="MONDO:equivalentTo"} xref: OMIM:610444 {source="MONDO:equivalentTo", source="DOID:0110715"} xref: UMLS:C1864870 {source="MEDGEN:355313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0110715"} ! autosomal dominant disease is_a: MONDO:0016293 {source="DC-OMIM:610444", source="DOID:0110715", source="MONDO:Redundant", source="OMIM:610444"} ! congenital stationary night blindness intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -283985,7 +284335,7 @@ xref: MEDGEN:355308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566470 {source="MONDO:equivalentTo"} xref: OMIM:610478 {source="MONDO:equivalentTo"} xref: UMLS:C1864849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355308"} -is_a: MONDO:0000455 {source="DC-OMIM:610478", source="MONDO:Redundant"} ! cone dystrophy +is_a: MONDO:0000455 {source="DC-OMIM:610478", source="DOID:0081023", source="MONDO:Redundant"} ! cone dystrophy is_a: MONDO:0015993 ! cone-rod dystrophy is_a: MONDO:0700244 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/"} ! CACNA2D4-related retinopathy intersection_of: MONDO:0000455 ! cone dystrophy @@ -284074,7 +284424,7 @@ xref: OMIM:610498 {source="MONDO:equivalentTo", source="Orphanet:254920", source xref: Orphanet:254920 {source="OMIM:610498", source="MONDO:equivalentTo"} xref: SCTID:764943000 {source="MONDO:equivalentTo"} xref: UMLS:C1864843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400626"} -is_a: MONDO:0000732 {source="DC-OMIM:610498", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:610498", source="DOID:0111483", source="MONDO:Redundant", source="OMIM:610498"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14048 ! MRPS16 @@ -284127,7 +284477,7 @@ xref: OMIM:610505 {source="Orphanet:168566", source="MONDO:equivalentTo", source xref: Orphanet:168566 {source="MONDO:equivalentTo", source="OMIM:610505"} xref: SCTID:720951008 {source="MONDO:equivalentTo"} xref: UMLS:C1864840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355842"} -is_a: MONDO:0000732 {source="DC-OMIM:610505", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:610505", source="DOID:0111486", source="MONDO:Redundant", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12367 ! TSFM @@ -284578,6 +284928,7 @@ xref: Orphanet:100054 {source="MONDO:equivalentTo", source="OMIM:610618"} xref: Orphanet:91378 {source="OMIM:610618"} xref: SCTID:427167008 {source="MONDO:equivalentTo"} xref: UMLS:C1857728 {source="MEDGEN:346653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0019623 {source="DOID:0080940", source="OMIM:610618"} ! hereditary angioedema intersection_of: MONDO:0019623 ! hereditary angioedema intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 ! F12 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3530 {source="MONDO:mim2gene_medgen"} ! F12 @@ -284671,7 +285022,7 @@ xref: NCIT:C176912 {source="MONDO:equivalentTo"} xref: OMIM:610629 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:610629"} xref: UMLS:C1857719 {source="MEDGEN:387892", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:610629", source="MESH:C536355", source="MONDO:Redundant", source="OMIM:610629"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:610629", source="DOID:0111887", source="MESH:C536355", source="MONDO:Redundant", source="OMIM:610629"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 ! RPS24 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10411 {source="MONDO:mim2gene_medgen"} ! RPS24 @@ -284776,7 +285127,7 @@ xref: MEDGEN:410155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610676 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:610676"} xref: UMLS:C1970807 {source="MEDGEN:410155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:610676"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -284805,7 +285156,7 @@ xref: OMIM:610678 {source="Orphanet:254925/e", source="MONDO:equivalentTo", sour xref: Orphanet:254925 {source="MONDO:equivalentTo", source="OMIM:610678"} xref: SCTID:766876004 {source="MONDO:equivalentTo"} xref: UMLS:C1857682 {source="MEDGEN:387884", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:610678", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:610678", source="DOID:0111494", source="MONDO:Redundant", source="OMIM:610678"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12420 ! TUFM @@ -285153,6 +285504,7 @@ xref: Orphanet:99749 {source="MONDO:equivalentTo", source="OMIM:610738"} xref: UMLS:C5235141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713491"} is_a: MONDO:0015356 {source="Orphanet:99749"} ! hereditary neoplastic syndrome is_a: MONDO:0018542 {source="DC-OMIM:610738", source="OMIM:610738", source="Orphanet:99749", source="Orphanet:99749/inferred"} ! severe congenital neutropenia +is_a: MONDO:0028226 {source="Orphanet:99749"} ! autosomal recessive severe congenital neutropenia relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16915 {source="MONDO:mim2gene_medgen"} ! HAX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -285186,7 +285538,7 @@ xref: MEDGEN:343973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610743 {source="Orphanet:88644", source="MONDO:equivalentTo", source="Orphanet:88644/e"} xref: Orphanet:88644 {source="MONDO:equivalentTo", source="OMIM:610743"} xref: UMLS:C1853116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343973"} -is_a: MONDO:0015244 {source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0111618", source="OMIM:610743", source="Orphanet:88644"} ! autosomal recessive cerebellar ataxia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 {source="MONDO:mim2gene_medgen"} ! SYNE1 [Term] @@ -285246,7 +285598,7 @@ xref: SCTID:715907003 {source="MONDO:equivalentTo"} xref: UMLS:C1970712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373469"} is_a: MONDO:0000426 {source="DOID:0080137", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0015356 {source="MESH:C567059/inferred", source="MONDO:Entailed", source="MONDO:indirect"} ! hereditary neoplastic syndrome -is_a: MONDO:0017169 {source="DC-OMIM:610755", source="MONDO:Redundant", source="OMIM:610755"} ! multiple endocrine neoplasia +is_a: MONDO:0017169 {source="DC-OMIM:610755", source="DOID:0080137", source="MONDO:Redundant", source="NCIT:C157449", source="OMIM:610755", source="Orphanet:276152"} ! multiple endocrine neoplasia intersection_of: MONDO:0017169 ! multiple endocrine neoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1785 ! CDKN1B relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610755", source="Orphanet:276152"} ! Autosomal dominant inheritance @@ -285272,7 +285624,7 @@ xref: OMIM:610756 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:610756"} xref: Orphanet:191 {source="OMIM:610756"} xref: UMLS:C1853102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342799"} -is_a: MONDO:0008926 {source="DC-OMIM:610756", source="MONDO:Redundant", source="OMIM:610756"} ! COFS syndrome +is_a: MONDO:0008926 {source="DC-OMIM:610756", source="DOID:0080912", source="MONDO:Redundant", source="OMIM:610756"} ! COFS syndrome intersection_of: MONDO:0008926 ! COFS syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3434 ! ERCC2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610756"} ! Autosomal recessive inheritance @@ -285299,7 +285651,7 @@ xref: OMIM:610758 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:610758"} xref: Orphanet:191 {source="OMIM:610758"} xref: UMLS:C1853100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342798"} -is_a: MONDO:0008926 {source="DC-OMIM:610758", source="MONDO:Redundant", source="OMIM:610758"} ! COFS syndrome +is_a: MONDO:0008926 {source="DC-OMIM:610758", source="DOID:0080914", source="MONDO:Redundant", source="OMIM:610758"} ! COFS syndrome intersection_of: MONDO:0008926 ! COFS syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3433 ! ERCC1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:610758"} ! Autosomal recessive inheritance @@ -285326,7 +285678,7 @@ xref: MEDGEN:339902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610759 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:610759"} xref: UMLS:C1853099 {source="MEDGEN:339902", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016033 {source="DC-OMIM:610759", source="MONDO:Redundant", source="OMIM:610759"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DC-OMIM:610759", source="DOID:0080507", source="MONDO:Redundant", source="OMIM:610759"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2468 ! SMC3 @@ -285370,7 +285722,7 @@ xref: UMLS:C1835849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder -is_a: MONDO:0005500 {source="DC-OMIM:610768"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:610768", source="DOID:0080565", source="OMIM:610768"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C563666", source="MONDO:0012556/inferred", source="MONDO:Redundant", source="OMIM:610768", source="Orphanet:91131/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation @@ -285583,7 +285935,7 @@ xref: MEDGEN:370932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610836 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:610836"} xref: UMLS:C1970512 {source="MEDGEN:370932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:610836"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -285598,7 +285950,7 @@ xref: MEDGEN:410089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610838 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:610838"} xref: UMLS:C1970511 {source="MEDGEN:410089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:610838"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -285782,7 +286134,7 @@ xref: MEDGEN:410081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610896 {source="MONDO:equivalentTo"} xref: Orphanet:107 {source="OMIM:610896"} xref: UMLS:C1970479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410081"} -is_a: MONDO:0007029 {source="DC-OMIM:610896", source="MONDO:Redundant"} ! branchio-oto-renal syndrome +is_a: MONDO:0007029 {source="DC-OMIM:610896", source="DOID:0111424", source="MONDO:Redundant", source="OMIM:610896"} ! branchio-oto-renal syndrome intersection_of: MONDO:0007029 ! branchio-oto-renal syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10891 ! SIX5 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:610896"} ! Autosomal dominant inheritance @@ -285829,7 +286181,7 @@ xref: MEDGEN:410080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610908 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:610908"} xref: UMLS:C1970473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:410080"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:610908"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -286100,7 +286452,7 @@ xref: Orphanet:168491 {source="OMIM:610951"} xref: Orphanet:228366 {source="DOID:0110722", source="MONDO:equivalentTo", source="OMIM:610951"} xref: UMLS:C1838571 {source="MEDGEN:325457", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 ! MFSD8 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28486 {source="MONDO:mim2gene_medgen"} ! MFSD8 @@ -286411,7 +286763,7 @@ xref: MEDGEN:410023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611015 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:611015"} xref: UMLS:C1970243 {source="MEDGEN:410023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:611015"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism [Term] @@ -286424,7 +286776,7 @@ xref: MEDGEN:370865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611016 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:611016"} xref: UMLS:C1970242 {source="MEDGEN:370865", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020836 ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:611016"} ! autism, susceptiblity to relationship: predisposes_towards MONDO:0005260 ! autism [Term] @@ -286503,7 +286855,7 @@ xref: MESH:C567025 {source="MONDO:equivalentTo"} xref: OMIM:611038 {source="DOID:0060842", source="MONDO:equivalentTo"} xref: Orphanet:2542 {source="DOID:0060842", source="OMIM:611038"} xref: UMLS:C5774181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823955"} -is_a: MONDO:0000062 {source="DC-OMIM:611038", source="MONDO:Redundant", source="OMIM:611038"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:611038", source="DOID:0060842", source="MONDO:Redundant", source="OMIM:611038"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18662 ! RAX @@ -286541,7 +286893,7 @@ xref: MESH:C567024 {source="MONDO:equivalentTo"} xref: OMIM:611040 {source="MONDO:equivalentTo", source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/e"} xref: Orphanet:251279 {source="MONDO:equivalentTo", source="DOID:0060837", source="OMIM:611040"} xref: UMLS:C1970236 {source="MEDGEN:410021", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000062 {source="DC-OMIM:611040", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:611040", source="DOID:0060837", source="MONDO:Redundant", source="OMIM:611040"} ! isolated microphthalmia intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 ! MFRP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18121 {source="MONDO:mim2gene_medgen"} ! MFRP @@ -286605,7 +286957,7 @@ xref: OMIM:611067 {source="MONDO:equivalentTo", source="Orphanet:206580", source xref: Orphanet:206580 {source="OMIM:611067", source="MONDO:equivalentTo"} xref: UMLS:C1970211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369682"} is_a: MONDO:0001516 {source="DC-OMIM:611067", source="MESH:C567023/inferred"} ! spinal muscular atrophy -is_a: MONDO:0015363 {source="OMIM:611067"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0111213", source="OMIM:611067"} ! neuronopathy, distal hereditary motor, autosomal recessive relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29105 {source="MONDO:mim2gene_medgen"} ! PLEKHG5 [Term] @@ -286702,7 +287054,7 @@ xref: MEDGEN:370850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567019 {source="MONDO:equivalentTo"} xref: OMIM:611090 {source="MONDO:equivalentTo"} xref: UMLS:C1970200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370850"} -is_a: MONDO:0019502 {source="DC-OMIM:611090", source="OMIM:611090"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611090", source="DOID:0081180", source="OMIM:611090"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286725,7 +287077,7 @@ xref: MEDGEN:370849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567018 {source="MONDO:equivalentTo"} xref: OMIM:611091 {source="MONDO:equivalentTo"} xref: UMLS:C1970199 {source="MONDO:equivalentTo", source="MEDGEN:370849", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611091", source="MONDO:Redundant", source="OMIM:611091"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611091", source="DOID:0081181", source="MONDO:Redundant", source="OMIM:611091"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 ! NSUN2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25994 {source="MONDO:mim2gene_medgen"} ! NSUN2 @@ -286751,7 +287103,7 @@ xref: MEDGEN:370848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567017 {source="MONDO:equivalentTo"} xref: OMIM:611092 {source="MONDO:equivalentTo"} xref: UMLS:C1970198 {source="MEDGEN:370848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611092", source="MONDO:Redundant", source="OMIM:611092"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611092", source="DOID:0081182", source="MONDO:Redundant", source="OMIM:611092"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 ! GRIK2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4580 {source="MONDO:mim2gene_medgen"} ! GRIK2 @@ -286780,7 +287132,7 @@ xref: MESH:C567016 {source="MONDO:equivalentTo"} xref: OMIM:611093 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611093"} xref: UMLS:C1970197 {source="MEDGEN:370847", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611093", source="MONDO:Redundant", source="OMIM:611093"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611093", source="DOID:0081183", source="MONDO:Redundant", source="OMIM:611093"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 ! TUSC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30242 {source="MONDO:mim2gene_medgen"} ! TUSC3 @@ -286812,7 +287164,7 @@ xref: MESH:C567014 {source="MONDO:equivalentTo"} xref: OMIM:611095 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611095"} xref: UMLS:C1970195 {source="MONDO:equivalentTo", source="MEDGEN:369678", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611095", source="OMIM:611095"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611095", source="DOID:0081184", source="OMIM:611095"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286834,7 +287186,7 @@ xref: MESH:C567013 {source="MONDO:equivalentTo"} xref: OMIM:611096 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611096"} xref: UMLS:C1970194 {source="MEDGEN:410010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611096", source="OMIM:611096"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611096", source="DOID:0081185", source="OMIM:611096"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286854,7 +287206,7 @@ xref: MESH:C567012 {source="MONDO:equivalentTo"} xref: OMIM:611097 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:611097"} xref: UMLS:C1970193 {source="MEDGEN:369677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611097", source="OMIM:611097"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611097", source="DOID:0081186", source="OMIM:611097"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -286952,7 +287304,7 @@ xref: MEDGEN:370844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567008 {source="MONDO:equivalentTo"} xref: OMIM:611107 {source="MONDO:equivalentTo"} xref: UMLS:C1970179 {source="MEDGEN:370844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:611107", source="OMIM:611107"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:611107", source="DOID:0081187", source="OMIM:611107"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -287218,7 +287570,7 @@ xref: OMIM:611182 {source="Orphanet:95428/e", source="MONDO:equivalentTo", sourc xref: Orphanet:95428 {source="MONDO:equivalentTo", source="OMIM:611182"} xref: SCTID:717774004 {source="MONDO:equivalentTo"} xref: UMLS:C1970021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409971"} -is_a: MONDO:0005501 {source="DC-OMIM:611182", source="OMIM:611182"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:611182", source="DOID:0070260", source="OMIM:611182"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:95428"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital @@ -287275,7 +287627,7 @@ xref: SCTID:718750004 {source="MONDO:equivalentTo"} xref: UMLS:C2931011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:443957"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005267 {source="MONDO:0018290-obsoleted"} ! heart disorder -is_a: MONDO:0005501 {source="DC-OMIM:611209", source="OMIM:611209"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:611209", source="DOID:0070259", source="OMIM:611209"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017750 {source="Orphanet:263508"} ! defect in conserved oligomeric Golgi complex @@ -287309,7 +287661,7 @@ xref: OMIM:611222 {source="GARD:0009292", source="Orphanet:77299/e", source="MON xref: Orphanet:77299 {source="GARD:0009292", source="OMIM:611222", source="MONDO:equivalentTo"} xref: SCTID:720010009 {source="MONDO:equivalentTo"} xref: UMLS:C1970013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370809"} -is_a: MONDO:0016073 {source="DC-OMIM:611222", source="OMIM:611222", source="Orphanet:77299"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:611222", source="DOID:0111812", source="OMIM:611222", source="Orphanet:77299"} ! syndromic microphthalmia is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:77299"} ! inherited neurodegenerative disorder relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:77299", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -287784,7 +288136,7 @@ xref: OMIM:611377 {source="DOID:0110975", source="MONDO:equivalentTo", source="O xref: Orphanet:140908 {source="DOID:0110975", source="OMIM:611377", source="MONDO:equivalentTo"} xref: SCTID:770406002 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5493-2602"} xref: UMLS:C1969652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409880"} -is_a: MONDO:0019676 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type B +is_a: MONDO:0019676 {source="Orphanet:140908", source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly type B is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0009-0009-9147-3105"} ! NOG-related symphalangism spectrum disorder intersection_of: MONDO:0019676 ! brachydactyly type B intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG @@ -288079,7 +288431,7 @@ xref: MESH:C566949 {source="MONDO:equivalentTo"} xref: OMIM:611456 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:611456"} xref: UMLS:C1969617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409870"} -is_a: MONDO:0003233 {source="DC-OMIM:611456", source="MESH:C566949", source="OMIM:611456"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:611456", source="DOID:0111430", source="MESH:C566949", source="OMIM:611456"} ! essential tremor is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -288109,6 +288461,7 @@ xref: UMLS:C0008350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005281 {source="DC-OMIM:611465", source="DOID:10211", source="MONDO:Redundant", source="NCIT:C122822/inferred", source="OMIM:611465"} ! gallbladder disorder is_a: MONDO:0006026 {source="EFO:0004799"} ! urinary bladder disorder +is_a: MONDO:0700225 {source="OMIM:611465"} ! hereditary gallbladder disorder relationship: disease_has_location UBERON:0002110 {source="EFO:0000784"} ! gallbladder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13887 {source="MONDO:mim2gene_medgen"} ! ABCG8 @@ -288176,7 +288529,7 @@ xref: MEDGEN:343831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611489 {source="DOID:0090030", source="MONDO:equivalentTo", source="Orphanet:199247", source="Orphanet:199247/e"} xref: Orphanet:199247 {source="DOID:0090030", source="MONDO:equivalentTo", source="OMIM:611489"} xref: UMLS:C1852529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343831"} -is_a: MONDO:0005495 {source="Orphanet:199247"} ! adrenal gland disorder +is_a: MONDO:0005495 {source="DOID:0090030", source="Orphanet:199247"} ! adrenal gland disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015971"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1540 {source="MONDO:mim2gene_medgen"} ! SERPINA6 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency" xsd:anyURI {source="GARD:0013101"} @@ -288211,7 +288564,7 @@ xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:611490"} xref: UMLS:C1969106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370598"} is_a: MONDO:0017198 {source="DOID:0110944", source="MONDO:0012676/inferred", source="MONDO:Redundant", source="OMIM:611490", source="PMID:31633310"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:611490", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2025 ! CLCN7 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -288290,6 +288643,7 @@ xref: OMIM:611497 {source="Orphanet:210110", source="DOID:0110945", source="MOND xref: Orphanet:210110 {source="OMIM:611497", source="MONDO:equivalentTo"} xref: UMLS:C1969093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409754"} is_a: MONDO:0017198 {source="DC-OMIM:611497", source="DOID:0110945", source="MONDO:Redundant", source="OMIM:611497", source="Orphanet:210110", source="PMID:31633310"} ! osteopetrosis +is_a: MONDO:0019026 {source="OMIM:611497"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29017 ! PLEKHM1 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -288333,7 +288687,7 @@ xref: MEDGEN:369406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566929 {source="MONDO:equivalentTo"} xref: OMIM:611515 {source="MONDO:equivalentTo"} xref: UMLS:C1969087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369406"} -is_a: MONDO:0000032 {source="DC-OMIM:611515", source="OMIM:611515"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:611515", source="DOID:0111311", source="OMIM:611515"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -288583,7 +288937,7 @@ xref: MESH:C537117 {source="MONDO:equivalentTo"} xref: OMIM:611554 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="OMIM:611554"} xref: UMLS:C1969056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370588"} -is_a: MONDO:0007893 {source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines +is_a: MONDO:0007893 {source="DOID:0080549", source="MESH:C537117", source="MONDO:Redundant", source="OMIM:611554", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9829 ! RAF1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:611554"} ! Autosomal dominant inheritance @@ -288632,7 +288986,7 @@ xref: OMIM:611556 {source="MONDO:equivalentTo", source="Orphanet:137625", source xref: Orphanet:137625 {source="MONDO:equivalentTo", source="OMIM:611556"} xref: SCTID:725027004 {source="MONDO:equivalentTo"} xref: UMLS:C1969054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:409741"} -is_a: MONDO:0002412 {source="MONDO:Redundant", source="Orphanet:137625", source="PMID:33340416"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="MONDO:Redundant", source="OMIM:611556", source="Orphanet:137625", source="PMID:33340416"} ! disorder of glycogen metabolism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4706 {source="MONDO:mim2gene_medgen"} ! GYS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -288703,7 +289057,7 @@ xref: OMIM:611571 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611571"} xref: UMLS:C1969046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369916"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:611571", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:611571", source="DOID:0060923", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis [Term] id: MONDO:0012697 @@ -288719,7 +289073,7 @@ xref: OMIM:611572 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611572"} xref: UMLS:C1969044 {source="MEDGEN:409738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:611572", source="DOID:0060925", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis [Term] id: MONDO:0012698 @@ -288819,7 +289173,7 @@ xref: Orphanet:93610 {source="MONDO:equivalentTo", source="OMIM:611590"} xref: UMLS:C5436235 {source="MEDGEN:1771439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia is_a: MONDO:0003689 ! familial hemolytic anemia -is_a: MONDO:0015827 {source="Orphanet:93610"} ! distal renal tubular acidosis +is_a: MONDO:0015827 {source="OMIM:611590", source="Orphanet:93610"} ! distal renal tubular acidosis relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11027 {source="MONDO:mim2gene_medgen"} ! SLC4A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -288951,7 +289305,7 @@ xref: MESH:C566902 {source="MONDO:equivalentTo"} xref: OMIM:611631 {source="MONDO:equivalentTo", source="DOID:0060753"} xref: Orphanet:98819 {source="OMIM:611631", source="DOID:0060753"} xref: UMLS:C1968847 {source="MONDO:equivalentTo", source="MEDGEN:368897", source="MONDO:MEDGEN"} -is_a: MONDO:0005115 {source="OMIM:611631"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DOID:0060753", source="OMIM:611631"} ! temporal lobe epilepsy [Term] id: MONDO:0012707 @@ -288964,7 +289318,7 @@ xref: MEDGEN:369868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566901 {source="MONDO:equivalentTo"} xref: OMIM:611634 {source="MONDO:equivalentTo"} xref: UMLS:C1968846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369868"} -is_a: MONDO:0000032 {source="DC-OMIM:611634", source="OMIM:611634"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:611634", source="DOID:0111303", source="OMIM:611634"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -289061,7 +289415,7 @@ xref: MEDGEN:388701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535796 {source="MONDO:equivalentTo"} xref: OMIM:611702 {source="MONDO:equivalentTo"} xref: UMLS:C2673686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:388701"} -is_a: MONDO:0016763 {source="DC-OMIM:611702"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DC-OMIM:611702", source="DOID:0112302"} ! spondylometaphyseal dysplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type" xsd:anyURI {source="GARD:0004992"} [Term] @@ -289102,7 +289456,7 @@ synonym: "migraine, with or without aura, susceptibility to, 12" EXACT [OMIM:611 xref: MEDGEN:388698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611706 {source="MONDO:equivalentTo"} xref: UMLS:C2673676 {source="MEDGEN:388698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100246 {source="DC-OMIM:611706", source="OMIM:611706/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:611706", source="OMIM:611706", source="OMIM:611706/inferred"} ! migraine with or without aura, susceptibility to property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -289132,7 +289486,7 @@ xref: OMIM:611717 {source="MONDO:equivalentTo", source="Orphanet:163654", source xref: Orphanet:163654 {source="MONDO:equivalentTo", source="OMIM:611717"} xref: SCTID:718765003 {source="MONDO:equivalentTo"} xref: UMLS:C2673649 {source="MONDO:equivalentTo", source="MEDGEN:435975", source="MONDO:MEDGEN"} -is_a: MONDO:0016761 {source="Orphanet:163654"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112287", source="Orphanet:163654"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0012717 @@ -289187,7 +289541,7 @@ xref: OMIM:611719 {source="Orphanet:137908/e", source="MONDO:equivalentTo", sour xref: Orphanet:137908 {source="OMIM:611719", source="MONDO:equivalentTo"} xref: SCTID:724279004 {source="MONDO:equivalentTo"} xref: UMLS:C2673642 {source="MEDGEN:435972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:611719", source="MONDO:Redundant", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:611719", source="DOID:0111473", source="MONDO:Redundant", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14508 {source="MONDO:mim2gene_medgen"} ! MRPS22 @@ -289284,8 +289638,8 @@ xref: OMIM:611726 {source="Orphanet:263516/e", source="MONDO:equivalentTo", sour xref: Orphanet:263516 {source="MONDO:equivalentTo", source="OMIM:611726"} xref: UMLS:C2673257 {source="MEDGEN:388595", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015286 ! congenital disorder of glycosylation -is_a: MONDO:0016295 {source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis -is_a: MONDO:0020074 {source="DC-OMIM:611726", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonus epilepsy +is_a: MONDO:0016295 {source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0020074 {source="DC-OMIM:611726", source="DOID:0111446", source="MESH:C567095", source="MONDO:Redundant", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21957 ! KCTD7 relationship: has_characteristic MONDO:0021140 ! congenital @@ -290103,7 +290457,7 @@ xref: MEDGEN:395630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567500 {source="MONDO:equivalentTo"} xref: OMIM:611892 {source="MONDO:equivalentTo"} xref: UMLS:C2678469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395630"} -is_a: MONDO:0016483 {source="DC-OMIM:611892", source="OMIM:611892"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:611892", source="DOID:0080969", source="OMIM:611892"} ! intracranial berry aneurysm [Term] id: MONDO:0012753 @@ -290146,7 +290500,7 @@ xref: MESH:C567498 {source="MONDO:equivalentTo"} xref: OMIM:611897 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:611897"} xref: UMLS:C2678467 {source="MEDGEN:395628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005514 {source="DC-OMIM:611897"} ! nanophthalmia +is_a: MONDO:0005514 {source="DC-OMIM:611897", source="OMIM:611897"} ! nanophthalmia is_a: MONDO:0021129 {source="MESH:C567498", source="MONDO:Redundant", source="OMIM:611897", source="Orphanet:35612/btnt"} ! microphthalmia [Term] @@ -290431,7 +290785,7 @@ xref: MESH:C567452 {source="MONDO:equivalentTo"} xref: OMIM:611944 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:611944"} xref: UMLS:C4747568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648459"} -is_a: MONDO:0019313 {source="OMIM:611944", source="Orphanet:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="DOID:0070211", source="OMIM:611944", source="Orphanet:79452/btnt"} ! lymphatic malformation [Term] id: MONDO:0012766 @@ -290632,7 +290986,7 @@ xref: OMIM:612004 {source="MONDO:equivalentTo"} xref: Orphanet:168629 {source="OMIM:612004"} xref: Orphanet:268322 {source="OMIM:612004"} xref: UMLS:C2677608 {source="MEDGEN:394329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100241 {source="DC-OMIM:612004", source="MESH:C567438", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia +is_a: MONDO:0100241 {source="DC-OMIM:612004", source="MESH:C567438", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:612004"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 ! CYCS relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19986 {source="MONDO:mim2gene_medgen"} ! CYCS @@ -290783,7 +291137,7 @@ xref: Orphanet:244310 {source="OMIM:612015", source="MONDO:equivalentTo"} xref: SCTID:733084000 {source="MONDO:equivalentTo"} xref: UMLS:C2677590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383145"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:612015"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:612015", source="DOID:0080566", source="OMIM:612015"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C567437", source="MONDO:0012783/inferred", source="MONDO:Redundant", source="OMIM:612015", source="Orphanet:244310/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017740 {source="Orphanet:244310"} ! disorder of protein N-glycosylation @@ -290820,8 +291174,8 @@ xref: OMIM:612016 {source="Orphanet:139485/e", source="MONDO:equivalentTo", sour xref: Orphanet:139485 {source="OMIM:612016", source="MONDO:equivalentTo"} xref: SCTID:725394006 {source="MONDO:equivalentTo"} xref: UMLS:C2677589 {source="MEDGEN:436985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="Orphanet:139485"} ! autosomal recessive cerebellar ataxia -is_a: MONDO:0018151 {source="DC-OMIM:612016", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency +is_a: MONDO:0015244 {source="OMIM:612016", source="Orphanet:139485"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0018151 {source="DC-OMIM:612016", source="DOID:0070241", source="OMIM:612016", source="Orphanet:139485"} ! coenzyme Q10 deficiency intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16812 {source="MONDO:mim2gene_medgen"} ! COQ8A @@ -290864,6 +291218,7 @@ xref: OMIM:612018 {source="Orphanet:247794/e", source="MONDO:equivalentTo", sour xref: Orphanet:247794 {source="MONDO:equivalentTo", source="OMIM:612018"} xref: SCTID:722457005 {source="MONDO:equivalentTo"} xref: UMLS:C4310806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934773"} +is_a: MONDO:0000426 {source="DOID:0070353"} ! autosomal dominant disease is_a: MONDO:0017706 {source="Orphanet:247794"} ! disorder of carbohydrate transmembrane transport and absorption relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:247794", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic HP:0000006 {source="https://orcid.org/0000-0002-4142-7153"} ! Autosomal dominant inheritance @@ -291126,7 +291481,7 @@ xref: OMIM:612079 {source="MONDO:equivalentTo", source="Orphanet:157954", source xref: Orphanet:157954 {source="OMIM:612079", source="MONDO:equivalentTo"} xref: UMLS:C2677535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394313"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0112244", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015770 {source="MONDO:0015890-obsoleted"} ! congenital hypogonadotropic hypogonadism is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:157954", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -291186,7 +291541,7 @@ xref: OMIM:612096 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:612096"} xref: UMLS:C2677515 {source="MONDO:equivalentTo", source="MEDGEN:436965", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:612096", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:612096", source="DOID:0060926", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis [Term] id: MONDO:0012798 @@ -291222,7 +291577,7 @@ xref: OMIM:612098 {source="DOID:0110317", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:612098"} xref: UMLS:C2677506 {source="MEDGEN:436962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:612098", source="DOID:0110317", source="MESH:C567419/inferred", source="MONDO:Redundant", source="OMIM:612098"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C567419", source="MONDO:OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110317", source="MESH:C567419", source="MONDO:OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 ! ACTC1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/143 {source="MONDO:mim2gene_medgen"} ! ACTC1 @@ -291350,7 +291705,7 @@ xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:612124"} xref: UMLS:C2677491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393755"} is_a: MONDO:0005045 {source="DC-OMIM:612124", source="DOID:0110318", source="MONDO:Redundant", source="OMIM:612124", source="OMIM:612124/inferred"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110318", source="MONDO:OMIM", source="OMIM:612124"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 ! CSRP3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2472 {source="MONDO:mim2gene_medgen"} ! CSRP3 @@ -291419,7 +291774,7 @@ xref: OMIM:612132 {source="MONDO:equivalentTo"} xref: Orphanet:238468 {source="OMIM:612132"} xref: Orphanet:98813 {source="OMIM:612132"} xref: UMLS:C2677481 {source="MEDGEN:394295", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010293 {source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency +is_a: MONDO:0010293 {source="DOID:0081079", source="OMIM:612132", source="Orphanet:98813/btnt"} ! ectodermal dysplasia and immune deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7797 {source="MONDO:mim2gene_medgen"} ! NFKBIA [Term] @@ -291445,7 +291800,7 @@ xref: OMIM:612138 {source="Orphanet:158684", source="MONDO:equivalentTo", source xref: Orphanet:158684 {source="MONDO:equivalentTo", source="OMIM:612138"} xref: SCTID:716701004 {source="MONDO:equivalentTo"} xref: UMLS:C2677349 {source="MEDGEN:436922", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:612138", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9069 {source="MONDO:mim2gene_medgen"} ! PLEC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -291475,7 +291830,7 @@ xref: OMIM:612158 {source="DOID:0110428", source="MONDO:equivalentTo"} xref: UMLS:C2677338 {source="MEDGEN:393713", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0004995 {source="https://orcid.org/0000-0001-6718-3559", source="https://orcid.org/0000-0001-9310-0163"} ! cardiovascular disorder -is_a: MONDO:0016333 {source="PMID:25610839", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! familial dilated cardiomyopathy +is_a: MONDO:0016333 {source="OMIM:612158", source="PMID:25610839", source="https://orcid.org/0000-0002-3458-4839", source="https://orcid.org/0009-0001-6494-4831"} ! familial dilated cardiomyopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/164 {source="MONDO:mim2gene_medgen"} ! ACTN2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI @@ -291524,7 +291879,7 @@ xref: MEDGEN:436919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567406 {source="MONDO:equivalentTo"} xref: OMIM:612161 {source="MONDO:equivalentTo"} xref: UMLS:C2677337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436919"} -is_a: MONDO:0016483 {source="DC-OMIM:612161", source="OMIM:612161"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:612161", source="DOID:0080970", source="OMIM:612161"} ! intracranial berry aneurysm [Term] id: MONDO:0012811 @@ -291541,7 +291896,7 @@ xref: MESH:C567405 {source="MONDO:equivalentTo"} xref: OMIM:612162 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:612162"} xref: UMLS:C2677336 {source="MEDGEN:393712", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:612162", source="OMIM:612162"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:612162", source="DOID:0080971", source="OMIM:612162"} ! intracranial berry aneurysm [Term] id: MONDO:0012812 @@ -291573,7 +291928,7 @@ xref: Orphanet:33069 {source="MONDO:relatedTo", source="OMIM:612164"} xref: Orphanet:599373 {source="MONDO:equivalentTo"} xref: SCTID:768666006 {source="MONDO:equivalentTo"} xref: UMLS:C2677326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436917"} -is_a: MONDO:0100062 {source="MONDO:Redundant", source="OMIM:612164"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080436", source="MONDO:Redundant", source="OMIM:612164"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11444 ! STXBP1 relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome @@ -291737,7 +292092,7 @@ xref: SCTID:73506006 {source="DOID:3369"} xref: SCTID:73676002 {source="DOID:3369"} xref: SCTID:76909002 {source="EFO:0000174", source="DOID:3369"} xref: UMLS:C0553580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107816"} -is_a: MONDO:0005089 {source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:3369", source="EFO:0000174", source="MESH:D012512/inferred", source="NCIT:C4817"} ! sarcoma is_a: MONDO:0021038 {source="NCIT:C4817"} ! Ewing sarcoma/peripheral primitive neuroectodermal tumor relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3508 {source="MONDO:mim2gene_medgen"} ! EWSR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -292290,6 +292645,7 @@ xref: MEDGEN:394200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612263 {source="MONDO:equivalentTo"} xref: UMLS:C2677089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394200"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-4142-7153"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:612263"} ! susceptibility to familial cutaneous melanoma relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: excluded_subClassOf MONDO:0018961 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-6601-2165"} ! familial melanoma relationship: excluded_subClassOf MONDO:0024462 {source="OMIM:612263", source="https://orcid.org/0000-0001-5208-3432"} ! susceptibility to familial cutaneous melanoma @@ -292376,7 +292732,7 @@ xref: MESH:C567371 {source="MONDO:equivalentTo"} xref: OMIM:612279 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:612279"} xref: UMLS:C2677078 {source="MEDGEN:394198", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018214 {source="DC-OMIM:612279", source="OMIM:612279"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:612279", source="DOID:0111300", source="OMIM:612279"} ! generalized epilepsy with febrile seizures plus relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29597 {source="MONDO:mim2gene_medgen"} ! IRGM [Term] @@ -292481,7 +292837,7 @@ xref: MESH:C567363 {source="MONDO:equivalentTo"} xref: OMIM:612286 {source="DOID:0080077", source="MONDO:equivalentTo"} xref: Orphanet:244305 {source="OMIM:612286"} xref: UMLS:C2676786 {source="MEDGEN:436776", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000079 {source="DC-OMIM:612286", source="MONDO:Redundant", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic +is_a: MONDO:0000079 {source="DC-OMIM:612286", source="DOID:0080077", source="MONDO:Redundant", source="OMIM:612286"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080077"} ! impaired renal function disease intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11019 ! SLC34A1 @@ -292506,7 +292862,7 @@ xref: MESH:C567362 {source="MONDO:equivalentTo"} xref: OMIM:612287 {source="DOID:0080078", source="MONDO:equivalentTo"} xref: Orphanet:244305 {source="OMIM:612287"} xref: UMLS:C2676782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394127"} -is_a: MONDO:0000079 {source="DC-OMIM:612287", source="MONDO:Redundant", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic +is_a: MONDO:0000079 {source="DC-OMIM:612287", source="DOID:0080078", source="MONDO:Redundant", source="OMIM:612287"} ! nephrolithiasis/osteoporosis, hypophosphatemic is_a: MONDO:0001343 {source="DOID:0080078"} ! impaired renal function disease intersection_of: MONDO:0000079 ! nephrolithiasis/osteoporosis, hypophosphatemic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11075 ! NHERF1 @@ -292748,6 +293104,7 @@ xref: Orphanet:178389 {source="OMIM:612301", source="MONDO:equivalentTo", source xref: UMLS:C2676766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436770"} is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder is_a: MONDO:0017198 {source="DC-OMIM:612301", source="DOID:0110946", source="MONDO:Redundant", source="OMIM:612301", source="Orphanet:178389", source="PMID:31633310"} ! osteopetrosis +is_a: MONDO:0019026 {source="OMIM:612301"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0017198 ! osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11908 ! TNFRSF11A relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -292779,7 +293136,7 @@ xref: MESH:C567353 {source="MONDO:equivalentTo"} xref: OMIM:612304 {source="MONDO:equivalentTo", source="GARD:0013041"} xref: Orphanet:745 {source="OMIM:612304", source="GARD:0013041"} xref: UMLS:C2676759 {source="MONDO:equivalentTo", source="MEDGEN:394120", source="MONDO:MEDGEN"} -is_a: MONDO:0019145 {source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency +is_a: MONDO:0019145 {source="DOID:0111904", source="MESH:C567353", source="OMIM:612304", source="OMIM:612304/inferred", source="Orphanet:745/btnt"} ! hereditary thrombophilia due to congenital protein C deficiency is_a: MONDO:0100240 {source="MESH:C567353/inferred", source="MONDO:Redundant", source="OMIM:612304", source="OMIM:612304/inferred"} ! inherited thrombophilia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9451 {source="MONDO:mim2gene_medgen"} ! PROC property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -292880,7 +293237,7 @@ xref: SCTID:719659003 {source="MONDO:equivalentTo"} xref: UMLS:C2676739 {source="MEDGEN:436765", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000761 {source="DC-OMIM:612313", source="DOID:0060428"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0016901 {source="Orphanet:251019"} ! partial deletion of the long arm of chromosome 2 -is_a: MONDO:0100147 {source="https://clinicalgenome.org/affiliation/40006/"} ! SATB2 associated disorder +is_a: MONDO:0100147 {source="Orphanet:576283", source="https://clinicalgenome.org/affiliation/40006/"} ! SATB2 associated disorder intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr2q32-q33 ! 2q32-q33 (Human) relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion @@ -292995,6 +293352,7 @@ xref: OMIM:612336 {source="MONDO:equivalentTo"} xref: Orphanet:26349 {source="MONDO:equivalentTo", source="OMIM:612336"} xref: Orphanet:743 {source="OMIM:612336"} xref: UMLS:C3278211 {source="MEDGEN:479841", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0111900"} ! autosomal dominant disease is_a: MONDO:0019144 {source="MONDO:Redundant", source="Orphanet:743/btnt"} ! hereditary thrombophilia due to congenital protein S deficiency is_a: MONDO:0100240 {source="MESH:C567077/inferred", source="MONDO:Redundant", source="OMIM:612336", source="OMIM:612336/inferred"} ! inherited thrombophilia intersection_of: MONDO:0019144 ! hereditary thrombophilia due to congenital protein S deficiency @@ -293362,7 +293720,7 @@ xref: Orphanet:520 {source="OMIM:612376", source="MONDO:equivalentTo", source="D xref: SCTID:110004001 {source="MONDO:equivalentTo", source="DOID:0060318"} xref: SCTID:28950004 {source="EFO:0000224", source="DOID:0060318"} xref: UMLS:C0023487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44127"} -is_a: MONDO:0018874 {source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0060318", source="NCIT:C3182", source="Orphanet:520"} ! acute myeloid leukemia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0011118 {source="DOID:0060318", source="EFO:0000224", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -293414,7 +293772,7 @@ xref: Orphanet:324737 {source="OMIM:612379", source="MONDO:equivalentTo"} xref: SCTID:733601006 {source="MONDO:equivalentTo"} xref: UMLS:C4317224 {source="MEDGEN:1392124", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:612379"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:612379", source="DOID:0080568", source="OMIM:612379"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0012885/inferred", source="MONDO:Redundant", source="OMIM:612379", source="Orphanet:324737/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:324737"} ! disorder of multiple glycosylation relationship: excluded_subClassOf MONDO:0005093 {source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder @@ -293509,7 +293867,7 @@ xref: MESH:C567325 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="DOID:0060268", source="OMIM:612389"} xref: UMLS:C2676466 {source="MEDGEN:393505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="DOID:0060268", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060268", source="MONDO:Redundant", source="OMIM:612389"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28422 ! TSEN2 @@ -293533,7 +293891,7 @@ xref: MESH:C567324 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: OMIM:612390 {source="MONDO:equivalentTo", source="DOID:0060269"} xref: Orphanet:2524 {source="DOID:0060269", source="OMIM:612390"} xref: UMLS:C2676465 {source="MEDGEN:382856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="DOID:0060269", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060269", source="MONDO:Redundant", source="OMIM:612390"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15506 ! TSEN34 @@ -294070,7 +294428,7 @@ xref: SCTID:8084001 {source="DOID:4183"} xref: UMLS:C0033835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10995"} is_a: MONDO:0002081 ! musculoskeletal system disorder is_a: MONDO:0019695 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! acromelic dysplasia -is_a: MONDO:0019992 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism +is_a: MONDO:0019992 {source="DOID:4183", source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! pseudohypoparathyroidism is_a: MONDO:0800466 {source="https://clinicalgenome.org/affiliation/40060/"} ! disorder of GNAS inactivation relationship: excluded_subClassOf MONDO:0005093 {source="MONDO:0018798-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! skin disorder relationship: excluded_subClassOf MONDO:0021154 {source="MONDO:0018699-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! dermis disorder @@ -294387,7 +294745,7 @@ xref: MESH:C567281 {source="MONDO:equivalentTo"} xref: NCIT:C176913 {source="MONDO:equivalentTo"} xref: OMIM:612527 {source="MONDO:equivalentTo"} xref: UMLS:C2675860 {source="MEDGEN:393906", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:612527", source="MESH:C567281", source="MONDO:Redundant", source="OMIM:612527"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:612527", source="DOID:0111890", source="MESH:C567281", source="MONDO:Redundant", source="OMIM:612527"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 ! RPS17 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10397 {source="MONDO:mim2gene_medgen"} ! RPS17 @@ -294415,7 +294773,7 @@ xref: NCIT:C176914 {source="MONDO:equivalentTo"} xref: OMIM:612528 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:612528"} xref: UMLS:C2675859 {source="MEDGEN:382705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:612528", source="MESH:C567280", source="MONDO:Redundant", source="OMIM:612528"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:612528", source="DOID:0111883", source="MESH:C567280", source="MONDO:Redundant", source="OMIM:612528"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 ! RPL35A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10345 {source="MONDO:mim2gene_medgen"} ! RPL35A @@ -294482,7 +294840,7 @@ xref: Orphanet:250999 {source="OMIM:612530", source="MONDO:equivalentTo", source xref: SCTID:716515000 {source="MONDO:equivalentTo"} xref: UMLS:C2675857 {source="MEDGEN:382704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000761 {source="DC-OMIM:612530", source="DOID:0060412"} ! syndrome caused by partial chromosomal deletion -is_a: MONDO:0016296 {source="DC-OMIM:612530", source="OMIM:612530"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DC-OMIM:612530", source="DOID:0060412", source="OMIM:612530"} ! holoprosencephaly is_a: MONDO:0022756 {source="Orphanet:250999"} ! chromosome 1q deletion intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr1q41-q42 ! 1q41-q42 (Human) @@ -294543,7 +294901,7 @@ xref: MESH:C567261 {source="MONDO:equivalentTo"} xref: OMIM:612540 {source="DOID:0080101", source="Orphanet:210163/e", source="MONDO:equivalentTo", source="Orphanet:210163"} xref: Orphanet:210163 {source="OMIM:612540", source="MONDO:equivalentTo"} xref: UMLS:C2675527 {source="MEDGEN:393406", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="Orphanet:210163"} ! congenital myopathy +is_a: MONDO:0019952 {source="DC-OMIM:612540", source="DOID:0080101", source="OMIM:612540", source="Orphanet:210163"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2171 {source="MONDO:mim2gene_medgen"} ! CNTN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -294574,6 +294932,7 @@ xref: Orphanet:178503 {source="OMIM:612541"} xref: Orphanet:331176 {source="OMIM:612541", source="MONDO:equivalentTo"} xref: UMLS:C2751630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:414066"} is_a: MONDO:0018542 {source="DC-OMIM:612541", source="OMIM:612541", source="Orphanet:331176", source="Orphanet:331176/inferred"} ! severe congenital neutropenia +is_a: MONDO:0028226 {source="Orphanet:331176"} ! autosomal recessive severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24861 ! G6PC3 @@ -294724,7 +295083,7 @@ xref: NCIT:C176915 {source="MONDO:equivalentTo"} xref: OMIM:612561 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:612561"} xref: UMLS:C2931850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419918"} -is_a: MONDO:0015253 {source="DC-OMIM:612561", source="MONDO:Redundant", source="OMIM:612561"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:612561", source="DOID:0111879", source="MONDO:Redundant", source="OMIM:612561"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 ! RPL5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10360 {source="MONDO:mim2gene_medgen"} ! RPL5 @@ -294751,7 +295110,7 @@ xref: MESH:C567254 {source="MONDO:equivalentTo"} xref: NCIT:C176916 {source="MONDO:equivalentTo"} xref: OMIM:612562 {source="MONDO:equivalentTo"} xref: UMLS:C2675512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436451"} -is_a: MONDO:0015253 {source="DC-OMIM:612562", source="MESH:C567254", source="MONDO:Redundant", source="OMIM:612562"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:612562", source="DOID:0111878", source="MESH:C567254", source="MONDO:Redundant", source="OMIM:612562"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 ! RPL11 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10301 {source="MONDO:mim2gene_medgen"} ! RPL11 @@ -294778,7 +295137,7 @@ xref: MESH:C567253 {source="MONDO:equivalentTo"} xref: NCIT:C176917 {source="MONDO:equivalentTo"} xref: OMIM:612563 {source="MONDO:equivalentTo"} xref: UMLS:C2675511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390817"} -is_a: MONDO:0015253 {source="DC-OMIM:612563", source="MESH:C567253", source="MONDO:Redundant", source="OMIM:612563"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:612563", source="DOID:0111881", source="MESH:C567253", source="MONDO:Redundant", source="OMIM:612563"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 ! RPS7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10440 {source="MONDO:mim2gene_medgen"} ! RPS7 @@ -295034,7 +295393,7 @@ xref: MEDGEN:393395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567238 {source="MONDO:equivalentTo"} xref: OMIM:612586 {source="MONDO:equivalentTo"} xref: UMLS:C2675485 {source="MEDGEN:393395", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:612586", source="OMIM:612586"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:612586", source="DOID:0080972", source="OMIM:612586"} ! intracranial berry aneurysm [Term] id: MONDO:0012950 @@ -295050,7 +295409,7 @@ xref: MEDGEN:390811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567237 {source="MONDO:equivalentTo"} xref: OMIM:612587 {source="MONDO:equivalentTo"} xref: UMLS:C2675484 {source="MEDGEN:390811", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:612587", source="OMIM:612587"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:612587", source="DOID:0080973", source="OMIM:612587"} ! intracranial berry aneurysm [Term] id: MONDO:0012951 @@ -295348,7 +295707,7 @@ xref: MESH:C567231 {source="MONDO:equivalentTo"} xref: OMIM:612627 {source="MONDO:equivalentTo"} xref: Orphanet:306 {source="OMIM:612627"} xref: UMLS:C2675462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436440"} -is_a: MONDO:0017615 {source="DC-OMIM:612627", source="OMIM:612627"} ! benign familial infantile epilepsy +is_a: MONDO:0017615 {source="DC-OMIM:612627", source="DOID:0081117", source="OMIM:612627"} ! benign familial infantile epilepsy [Term] id: MONDO:0012966 @@ -295414,7 +295773,7 @@ xref: OMIM:612632 {source="DOID:0110835", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:612632"} xref: Orphanet:886 {source="OMIM:612632"} xref: UMLS:C2675458 {source="MEDGEN:393392", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110835", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110835/inferred", source="MESH:C567227", source="MONDO:Redundant", source="OMIM:612632"} ! Usher syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -295494,7 +295853,7 @@ xref: MEDGEN:390747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567218 {source="MONDO:equivalentTo"} xref: OMIM:612637 {source="MONDO:equivalentTo"} xref: UMLS:C2675251 {source="MEDGEN:390747", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000032 {source="DC-OMIM:612637", source="OMIM:612637"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DC-OMIM:612637", source="DOID:0111304", source="OMIM:612637"} ! febrile seizures, familial is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease [Term] @@ -295793,7 +296152,7 @@ xref: MEDGEN:393334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567206 {source="MONDO:equivalentTo"} xref: OMIM:612657 {source="DOID:0111019", source="MONDO:equivalentTo"} xref: UMLS:C2675210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393334"} -is_a: MONDO:0015993 {source="DC-OMIM:612657", source="DOID:0111019", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:612657", source="DOID:0111019", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:612657"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 ! PROM1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9454 {source="MONDO:mim2gene_medgen"} ! PROM1 @@ -295953,7 +296312,7 @@ xref: MESH:C567198 {source="MONDO:equivalentTo"} xref: OMIM:612703 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:612703"} xref: UMLS:C2675187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436370"} -is_a: MONDO:0016660 {source="DC-OMIM:612703", source="MONDO:Redundant", source="OMIM:612703"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:612703", source="DOID:0070278", source="MONDO:Redundant", source="OMIM:612703"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 ! STIL relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10879 {source="MONDO:mim2gene_medgen"} ! STIL @@ -296280,7 +296639,7 @@ xref: GARD:15582 {source="MONDO:GARD"} xref: MEDGEN:244692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612775 {source="MONDO:equivalentTo", source="DOID:0111020"} xref: UMLS:C1423873 {source="MEDGEN:244692", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:612775", source="DOID:0111020", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:612775"} ! cone-rod dystrophy is_a: MONDO:0800398 {source="https://clinicalgenome.org/affiliation/40072/"} ! ADAM9-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/216 ! ADAM9 @@ -296392,7 +296751,7 @@ xref: OMIM:612781 {source="Orphanet:231671", source="MONDO:equivalentTo", source xref: Orphanet:231671 {source="OMIM:612781", source="MONDO:equivalentTo", source="DOID:0060874"} xref: Orphanet:631 {source="OMIM:612781"} xref: UMLS:C2748571 {source="MEDGEN:411242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000050 {source="DC-OMIM:612781", source="DOID:0060874", source="Orphanet:231671"} ! isolated congenital growth hormone deficiency +is_a: MONDO:0000050 {source="DC-OMIM:612781", source="DOID:0060874", source="OMIM:612781", source="Orphanet:231671"} ! isolated congenital growth hormone deficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b" xsd:anyURI {source="GARD:0003919"} @@ -296688,7 +297047,7 @@ xref: MESH:C567553 {source="MONDO:equivalentTo"} xref: OMIM:612843 {source="MONDO:equivalentTo"} xref: Orphanet:2340 {source="OMIM:612843"} xref: UMLS:C2748527 {source="MEDGEN:412573", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000136 {source="DC-OMIM:612843"} ! keratosis follicularis spinulosa decalvans +is_a: MONDO:0000136 {source="DC-OMIM:612843", source="DOID:0080755"} ! keratosis follicularis spinulosa decalvans [Term] id: MONDO:0013019 @@ -296772,7 +297131,7 @@ xref: MESH:C567548 {source="MONDO:equivalentTo"} xref: OMIM:612858 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:612858"} xref: UMLS:C2748505 {source="MEDGEN:411596", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:612858"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080405", source="MONDO:Redundant", source="OMIM:612858"} ! orofacial cleft relationship: has_characteristic MONDO:0021128 ! has an isolated presentation [Term] @@ -296928,7 +297287,7 @@ xref: DOID:0111747 {source="MONDO:equivalentTo"} xref: MEDGEN:854704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612876 {source="MONDO:equivalentTo"} xref: UMLS:C3887996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854704"} -is_a: MONDO:0020380 {source="DC-OMIM:612876", source="OMIM:612876"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DC-OMIM:612876", source="DOID:0111747", source="OMIM:612876"} ! autosomal dominant cerebellar ataxia [Term] id: MONDO:0013030 @@ -296969,7 +297328,7 @@ xref: OMIM:612881 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:612881"} xref: Orphanet:98892 {source="OMIM:612881"} xref: UMLS:C2752071 {source="MEDGEN:442882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020341 {source="DC-OMIM:612881", source="MESH:C567876"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:612881", source="MESH:C567876", source="OMIM:612881"} ! periventricular nodular heterotopia [Term] id: MONDO:0013032 @@ -297017,7 +297376,7 @@ xref: MESH:C567867 {source="MONDO:equivalentTo"} xref: OMIM:612900 {source="MONDO:equivalentTo"} xref: Orphanet:210141 {source="OMIM:612900"} xref: UMLS:C2752061 {source="MEDGEN:442880", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016215 {source="DC-OMIM:612900", source="MONDO:Redundant", source="OMIM:612900"} ! spastic quadriplegic cerebral palsy +is_a: MONDO:0016215 {source="DC-OMIM:612900", source="DOID:0081360", source="MONDO:Redundant", source="OMIM:612900"} ! spastic quadriplegic cerebral palsy is_a: MONDO:0700092 {source="https://orcid.org/0000-0001-5208-3432"} ! neurodevelopmental disorder intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19309 ! KANK1 @@ -297046,7 +297405,7 @@ xref: MESH:C565102 {source="MONDO:equivalentTo"} xref: OMIM:612908 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="OMIM:612908"} xref: UMLS:C1852127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343725"} -is_a: MONDO:0018865 {source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma +is_a: MONDO:0018865 {source="DOID:0081109", source="MONDO:Redundant", source="Orphanet:50942/btnt"} ! striate palmoplantar keratoderma intersection_of: MONDO:0018865 ! striate palmoplantar keratoderma intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 ! DSP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3052 {source="MONDO:mim2gene_medgen"} ! DSP @@ -297086,7 +297445,7 @@ xref: OMIM:612913 {source="Orphanet:141000", source="MONDO:equivalentTo", source xref: Orphanet:141000 {source="MONDO:equivalentTo", source="OMIM:612913", source="DOID:0060381"} xref: SCTID:718681002 {source="MONDO:equivalentTo"} xref: UMLS:C2752048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416694"} -is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="Orphanet:141000"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:612913", source="DOID:0060381", source="MESH:C557821", source="OMIM:612913", source="Orphanet:141000"} ! orofaciodigital syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11" xsd:anyURI {source="GARD:0004118"} [Term] @@ -297400,7 +297759,7 @@ xref: NANDO:1200835 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:612932 {source="MONDO:equivalentTo", source="Orphanet:99849", source="Orphanet:99849/e"} xref: Orphanet:99849 {source="MONDO:equivalentTo", source="OMIM:612932"} xref: UMLS:C2752027 {source="MEDGEN:442873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="Orphanet:99849"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="DC-OMIM:612932", source="MESH:C567861", source="OMIM:612932", source="Orphanet:99849"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: excluded_subClassOf MONDO:0016118 {source="Orphanet:99849", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete muscular glycogenosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3354 {source="MONDO:mim2gene_medgen"} ! ENO3 @@ -297441,7 +297800,7 @@ xref: Orphanet:2364 {source="OMIM:612933"} xref: Orphanet:284426 {source="MONDO:equivalentTo", source="OMIM:612933"} xref: SCTID:237982007 {source="MONDO:equivalentTo"} xref: UMLS:C2931743 {source="MEDGEN:419152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="Orphanet:284426/inferred"} ! disorder of glycogen metabolism +is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="OMIM:612933", source="Orphanet:284426/inferred"} ! disorder of glycogen metabolism is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis intersection_of: MONDO:0002412 {source="MONDO:mim2gene_medgen"} ! disorder of glycogen metabolism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6535 {source="MONDO:mim2gene_medgen"} ! LDHA @@ -297515,7 +297874,7 @@ xref: OMIM:612937 {source="Orphanet:263494", source="MONDO:equivalentTo", source xref: Orphanet:263494 {source="MONDO:equivalentTo", source="OMIM:612937"} xref: SCTID:725044000 {source="MONDO:equivalentTo"} xref: UMLS:C2752007 {source="MEDGEN:414534", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:612937"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:612937", source="OMIM:612937"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C567857", source="MONDO:0013049/inferred", source="MONDO:Redundant", source="OMIM:612937", source="Orphanet:263494/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:263494"} ! disorder of multiple glycosylation is_a: MONDO:0018276 {source="Orphanet:263494"} ! muscular dystrophy-dystroglycanopathy @@ -297741,7 +298100,7 @@ xref: OMIM:612951 {source="Orphanet:85136", source="MONDO:equivalentTo", source= xref: Orphanet:85136 {source="OMIM:612951", source="MONDO:equivalentTo"} xref: SCTID:720825005 {source="MONDO:equivalentTo"} xref: UMLS:C2751843 {source="MEDGEN:416646", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019046 {source="Orphanet:85136"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0081007", source="Orphanet:85136"} ! leukodystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21686 {source="MONDO:mim2gene_medgen"} ! RNASET2 [Term] @@ -297841,7 +298200,7 @@ xref: OMIM:612954 {source="DOID:0080097", source="Orphanet:199340", source="MOND xref: Orphanet:199340 {source="MONDO:equivalentTo", source="OMIM:612954"} xref: UMLS:C2751831 {source="MEDGEN:414119", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005336 {source="DOID:0080097", source="MONDO:Redundant", source="MONDO:indirect"} ! myopathy -is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080097", source="MONDO:Redundant", source="OMIM:612954", source="Orphanet:199340"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 ! BAG3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/939 {source="MONDO:mim2gene_medgen"} ! BAG3 @@ -297915,7 +298274,7 @@ xref: MESH:C567839 {source="MONDO:equivalentTo"} xref: OMIM:612961 {source="MONDO:equivalentTo"} xref: Orphanet:3237 {source="OMIM:612961"} xref: UMLS:C2751826 {source="MEDGEN:414116", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017923 {source="DC-OMIM:612961", source="MONDO:Redundant", source="OMIM:612961"} ! multiple synostoses syndrome +is_a: MONDO:0017923 {source="DC-OMIM:612961", source="DOID:0081319", source="MONDO:Redundant", source="OMIM:612961"} ! multiple synostoses syndrome intersection_of: MONDO:0017923 ! multiple synostoses syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 ! FGF9 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3687 {source="MONDO:mim2gene_medgen"} ! FGF9 @@ -297971,7 +298330,7 @@ xref: OMIM:612965 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:612965"} xref: Orphanet:251510 {source="OMIM:612965"} xref: UMLS:C3489793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:483746"} -is_a: MONDO:0010765 {source="OMIM:612965", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111772", source="OMIM:612965", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 {source="MONDO:mim2gene_medgen"} ! NR5A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -298059,7 +298418,7 @@ xref: MESH:C567832 {source="MONDO:equivalentTo"} xref: OMIM:612997 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:612997"} xref: UMLS:C2751811 {source="MEDGEN:414478", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:612997", source="OMIM:612997"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:612997", source="DOID:0070173", source="OMIM:612997"} ! spermatogenic failure [Term] id: MONDO:0013071 @@ -298257,7 +298616,7 @@ xref: MESH:C567817 {source="MONDO:equivalentTo"} xref: OMIM:613007 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613007"} xref: UMLS:C2751696 {source="MEDGEN:442791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005388 {source="DC-OMIM:613007", source="MESH:C567817", source="OMIM:613007"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:613007", source="DOID:0070359", source="MESH:C567817", source="OMIM:613007"} ! primary biliary cholangitis [Term] id: MONDO:0013080 @@ -298274,7 +298633,7 @@ xref: MESH:C567816 {source="MONDO:equivalentTo"} xref: OMIM:613008 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613008"} xref: UMLS:C2751695 {source="MEDGEN:414443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005388 {source="DC-OMIM:613008", source="MESH:C567816", source="OMIM:613008"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:613008", source="DOID:0070360", source="MESH:C567816", source="OMIM:613008"} ! primary biliary cholangitis [Term] id: MONDO:0013081 @@ -298584,6 +298943,7 @@ xref: OMIM:613029 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="OMIM:613029"} xref: Orphanet:360 {source="MONDO:relatedTo", source="OMIM:613029"} xref: UMLS:C2751641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442777"} +is_a: MONDO:0100242 {source="OMIM:613029"} ! glioma susceptibility intersection_of: MONDO:0100242 ! glioma susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1101 ! BRCA2 intersection_of: predisposes_towards MONDO:0100342 ! malignant glioma @@ -299196,7 +299556,7 @@ xref: MESH:C567766 {source="MONDO:equivalentTo"} xref: OMIM:613080 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:613080"} xref: UMLS:C2751317 {source="MONDO:equivalentTo", source="MEDGEN:414349", source="MONDO:MEDGEN"} -is_a: MONDO:0010765 {source="MESH:C567766", source="OMIM:613080", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111776", source="MESH:C567766", source="OMIM:613080", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1552 {source="MONDO:mim2gene_medgen"} ! CBX2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -299453,7 +299813,7 @@ xref: MESH:C567757 {source="MONDO:equivalentTo"} xref: OMIM:613094 {source="MONDO:equivalentTo", source="DOID:0060836"} xref: Orphanet:2542 {source="OMIM:613094", source="DOID:0060836"} xref: UMLS:C2751307 {source="MEDGEN:414346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000062 {source="DC-OMIM:613094", source="MONDO:Redundant", source="OMIM:613094"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:613094", source="DOID:0060836", source="MONDO:Redundant", source="OMIM:613094"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4221 ! GDF6 @@ -299533,6 +299893,7 @@ xref: OMIM:613099 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613099"} xref: UMLS:C2751295 {source="MONDO:equivalentTo", source="MEDGEN:416516", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:613099"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:613099"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6929 ! MC1R intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -299674,7 +300035,7 @@ xref: MESH:C567748 {source="MONDO:equivalentTo"} xref: OMIM:613107 {source="MONDO:equivalentTo"} xref: Orphanet:486 {source="OMIM:613107"} xref: UMLS:C2751288 {source="MONDO:equivalentTo", source="MEDGEN:413975", source="MONDO:MEDGEN"} -is_a: MONDO:0008742 {source="MONDO:Redundant", source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia +is_a: MONDO:0008742 {source="DOID:0112131", source="MONDO:Redundant", source="Orphanet:486/btnt"} ! autosomal dominant severe congenital neutropenia is_a: MONDO:0018542 {source="MONDO:Redundant", source="OMIM:613107"} ! severe congenital neutropenia intersection_of: MONDO:0008742 ! autosomal dominant severe congenital neutropenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4237 ! GFI1 @@ -300063,7 +300424,7 @@ xref: MEDGEN:461762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613151 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613151"} xref: UMLS:C3150412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461762"} -is_a: MONDO:0000172 {source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DOID:0112378", source="OMIM:613151"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700068 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMGNT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19139 {source="MONDO:mim2gene_medgen"} ! POMGNT1 @@ -300086,7 +300447,7 @@ xref: MEDGEN:413465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613152 {source="MONDO:equivalentTo"} xref: Orphanet:370980 {source="OMIM:613152"} xref: UMLS:C2751052 {source="MEDGEN:413465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000172 {source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DOID:0112379", source="OMIM:613152"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700067 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in FKTN relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3622 {source="MONDO:mim2gene_medgen"} ! FKTN @@ -300161,7 +300522,7 @@ xref: OMIM:613155 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613155", source="MONDO:relatedTo"} xref: Orphanet:370968 {source="OMIM:613155", source="MONDO:relatedTo"} xref: UMLS:C5436962 {source="MEDGEN:1774807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000172 {source="DC-OMIM:613155", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DC-OMIM:613155", source="DOID:0050588", source="OMIM:613155"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700070 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9202 {source="MONDO:mim2gene_medgen"} ! POMT1 @@ -300188,7 +300549,7 @@ xref: OMIM:613156 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="OMIM:613156", source="MONDO:relatedTo"} xref: Orphanet:370968 {source="OMIM:613156", source="MONDO:relatedTo"} xref: UMLS:C3150416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461766"} -is_a: MONDO:0000172 {source="DC-OMIM:613156", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DC-OMIM:613156", source="DOID:0112380", source="OMIM:613156"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126690", source="OMIM:613156"} ! muscular dystrophy is_a: MONDO:0700071 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in POMT2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19743 {source="MONDO:mim2gene_medgen"} ! POMT2 @@ -300384,7 +300745,7 @@ xref: OMIM:613163 {source="Orphanet:2066", source="MONDO:equivalentTo", source=" xref: Orphanet:2066 {source="MONDO:equivalentTo", source="GARD:0000194", source="OMIM:613163"} xref: SCTID:237941007 {source="MONDO:equivalentTo"} xref: UMLS:C0342708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137977"} -is_a: MONDO:0000698 {source="DOID:0060174"} ! gamma-amino butyric acid metabolism disorder +is_a: MONDO:0000698 {source="DOID:0060174", source="Orphanet:2066"} ! gamma-amino butyric acid metabolism disorder is_a: MONDO:0017684 {source="Orphanet:2066"} ! disorder of beta and omega amino acid metabolism relationship: disease_has_basis_in_disruption_of GO:0003867 ! 4-aminobutyrate transaminase activity relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23 {source="MONDO:mim2gene_medgen"} ! ABAT @@ -300584,7 +300945,7 @@ xref: MEDGEN:442564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567714 {source="MONDO:equivalentTo"} xref: OMIM:613192 {source="MONDO:equivalentTo"} xref: UMLS:C2750791 {source="MONDO:equivalentTo", source="MEDGEN:442564", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:613192", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:613192", source="DOID:0081098", source="MONDO:Redundant", source="OMIM:613192"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 ! TRAPPC9 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30832 {source="MONDO:mim2gene_medgen"} ! TRAPPC9 @@ -301160,7 +301521,7 @@ xref: OMIM:613243 {source="MONDO:equivalentTo", source="DOID:0110319"} xref: Orphanet:155 {source="OMIM:613243"} xref: UMLS:C2750472 {source="MONDO:equivalentTo", source="MEDGEN:442487", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:613243", source="DOID:0110319", source="MESH:C567686/inferred", source="MONDO:Redundant", source="OMIM:613243"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C567686", source="MONDO:OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110319", source="MESH:C567686", source="MONDO:OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 ! TNNC1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11943 {source="MONDO:mim2gene_medgen"} ! TNNC1 @@ -301214,7 +301575,7 @@ xref: OMIM:613251 {source="MONDO:equivalentTo", source="DOID:0110320"} xref: Orphanet:155 {source="OMIM:613251"} xref: UMLS:C2750467 {source="MEDGEN:442484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:613251", source="DOID:0110320", source="MESH:C567684/inferred", source="MONDO:Redundant", source="OMIM:613251"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C567684", source="MONDO:OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110320", source="MESH:C567684", source="MONDO:OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 ! MYH6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7576 {source="MONDO:mim2gene_medgen"} ! MYH6 @@ -301265,7 +301626,7 @@ xref: NCIT:C75331 {source="MONDO:equivalentTo"} xref: OMIM:613254 {source="MONDO:equivalentTo"} xref: Orphanet:805 {source="OMIM:613254"} xref: UMLS:C1860707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348170"} -is_a: MONDO:0001734 {source="DC-OMIM:613254", source="NCIT:C75331", source="OMIM:613254"} ! tuberous sclerosis +is_a: MONDO:0001734 {source="DC-OMIM:613254", source="DOID:0080325", source="NCIT:C75331", source="OMIM:613254"} ! tuberous sclerosis relationship: excluded_subClassOf MONDO:0019341 {source="Orphanet:805/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete tuberous sclerosis complex relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613254"} ! Autosomal dominant inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -301292,7 +301653,7 @@ xref: OMIM:613255 {source="MONDO:equivalentTo", source="DOID:0110321"} xref: Orphanet:155 {source="OMIM:613255"} xref: UMLS:C2750459 {source="MEDGEN:413312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:613255", source="DOID:0110321", source="MESH:C567681/inferred", source="MONDO:Redundant", source="OMIM:613255"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MESH:C567681", source="MONDO:OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110321", source="MESH:C567681", source="MONDO:OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 ! VCL relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12665 {source="MONDO:mim2gene_medgen"} ! VCL @@ -301487,7 +301848,7 @@ xref: OMIM:613280 {source="Orphanet:309854/e", source="MONDO:equivalentTo", sour xref: Orphanet:309854 {source="MONDO:equivalentTo", source="OMIM:613280"} xref: SCTID:702377007 {source="MONDO:equivalentTo"} xref: UMLS:C2750442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:412958"} -is_a: MONDO:0000214 {source="DC-OMIM:613280", source="OMIM:613280"} ! hypermanganesemia with dystonia +is_a: MONDO:0000214 {source="DC-OMIM:613280", source="DOID:0080536", source="OMIM:613280"} ! hypermanganesemia with dystonia is_a: MONDO:0005066 {source="Orphanet:309854"} ! metabolic disease is_a: MONDO:0017766 {source="Orphanet:309854"} ! disorder of manganese transport is_a: MONDO:0021095 {source="MONDO:0017661-obsoleted"} ! parkinsonian disorder @@ -301692,7 +302053,7 @@ xref: NCIT:C176918 {source="MONDO:equivalentTo"} xref: OMIM:613308 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:613308"} xref: UMLS:C2750081 {source="MEDGEN:412874", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:613308", source="MESH:C567650", source="MONDO:Redundant", source="OMIM:613308"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:613308", source="DOID:0111884", source="MESH:C567650", source="MONDO:Redundant", source="OMIM:613308"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 ! RPS10 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10383 {source="MONDO:mim2gene_medgen"} ! RPS10 @@ -301719,7 +302080,7 @@ xref: MESH:C567649 {source="MONDO:equivalentTo"} xref: NCIT:C176919 {source="MONDO:equivalentTo"} xref: OMIM:613309 {source="MONDO:equivalentTo"} xref: UMLS:C2750080 {source="MEDGEN:412873", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:613309", source="MESH:C567649", source="MONDO:Redundant", source="OMIM:613309"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:613309", source="DOID:0111888", source="MESH:C567649", source="MONDO:Redundant", source="OMIM:613309"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 ! RPS26 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10414 {source="MONDO:mim2gene_medgen"} ! RPS26 @@ -301820,7 +302181,7 @@ xref: MESH:C567646 {source="MONDO:equivalentTo"} xref: OMIM:613318 {source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="OMIM:613318"} xref: UMLS:C2750077 {source="MEDGEN:413751", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009685 {source="Orphanet:45448/btnt"} ! Miyoshi myopathy +is_a: MONDO:0009685 {source="DOID:0070200", source="OMIM:613318", source="Orphanet:45448/btnt"} ! Miyoshi myopathy is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:613318"} ! distal myopathy [Term] @@ -301845,7 +302206,7 @@ xref: MESH:C567645 {source="MONDO:equivalentTo"} xref: OMIM:613319 {source="Orphanet:399096/e", source="MONDO:equivalentTo", source="Orphanet:399096"} xref: Orphanet:399096 {source="MONDO:equivalentTo", source="OMIM:613319"} xref: UMLS:C2750076 {source="MEDGEN:413750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009685 {source="OMIM:613319"} ! Miyoshi myopathy +is_a: MONDO:0009685 {source="DOID:0070201", source="OMIM:613319"} ! Miyoshi myopathy is_a: MONDO:0018949 {source="DC-OMIM:613319", source="MONDO:Redundant", source="OMIM:613319", source="Orphanet:399096/inferred"} ! distal myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27337 {source="MONDO:mim2gene_medgen"} ! ANO5 @@ -301875,7 +302236,7 @@ xref: MESH:C567644 {source="MONDO:equivalentTo"} xref: OMIM:613320 {source="MONDO:equivalentTo", source="Orphanet:401979", source="Orphanet:401979/e"} xref: Orphanet:401979 {source="OMIM:613320", source="MONDO:equivalentTo"} xref: UMLS:C2750075 {source="MEDGEN:413221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016763 {source="OMIM:613320"} ! spondylometaphyseal dysplasia +is_a: MONDO:0016763 {source="DOID:0112304", source="OMIM:613320"} ! spondylometaphyseal dysplasia is_a: MONDO:0019694 {source="Orphanet:401979"} ! spondylodysplastic dysplasia is_a: MONDO:0800080 {source="PMID:31633310"} ! severe spondylodysplastic dysplasia intersection_of: MONDO:0019694 ! spondylodysplastic dysplasia @@ -302082,7 +302443,7 @@ xref: MEDGEN:461886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613340 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="OMIM:613340"} xref: UMLS:C3150536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461886"} -is_a: MONDO:0013229 {source="OMIM:613340", source="Orphanet:166412/btnt"} ! hot water reflex epilepsy +is_a: MONDO:0013229 {source="DOID:0081107", source="OMIM:613340", source="Orphanet:166412/btnt"} ! hot water reflex epilepsy [Term] id: MONDO:0013231 @@ -302674,7 +303035,7 @@ xref: OMIM:613402 {source="MONDO:equivalentTo"} xref: Orphanet:228418 {source="MONDO:equivalentObsolete", source="GARD:0010933"} xref: UMLS:C3150667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462017"} is_a: MONDO:0001149 {source="https://orcid.org/0000-0001-6330-7526"} ! microcephaly -is_a: MONDO:0100062 {source="DC-OMIM:613402", source="OMIM:613402"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613402", source="DOID:0080457", source="OMIM:613402"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9154 {source="MONDO:mim2gene_medgen"} ! PNKP property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1753" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay" xsd:anyURI {source="GARD:0010933"} @@ -302698,7 +303059,7 @@ xref: MEDGEN:462022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613404 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:613404"} xref: UMLS:C3150672 {source="MEDGEN:462022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017123 {source="DC-OMIM:613404", source="MONDO:Redundant", source="OMIM:613404", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome +is_a: MONDO:0017123 {source="DC-OMIM:613404", source="DOID:0111354", source="MONDO:Redundant", source="OMIM:613404", source="Orphanet:2697/btnt"} ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: MONDO:0017123 ! arthrogryposis-renal dysfunction-cholestasis syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 ! VIPAS39 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20347 {source="MONDO:mim2gene_medgen"} ! VIPAS39 @@ -302799,7 +303160,7 @@ xref: MEDGEN:462028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="OMIM:613411"} xref: UMLS:C3150678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462028"} -is_a: MONDO:0016293 {source="DC-OMIM:613411", source="OMIM:613411"} ! congenital stationary night blindness +is_a: MONDO:0016293 {source="DC-OMIM:613411", source="DOID:0110713", source="OMIM:613411"} ! congenital stationary night blindness is_a: MONDO:0019152 {source="MONDO:Redundant", source="Orphanet:75382/btnt"} ! Oguchi disease intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10013 ! GRK1 @@ -303040,7 +303401,7 @@ xref: Orphanet:228390 {source="MONDO:equivalentTo", source="OMIM:613451"} xref: SCTID:725029001 {source="MONDO:equivalentTo"} xref: UMLS:C3150703 {source="MEDGEN:462053", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder -is_a: MONDO:0016643 {source="DC-OMIM:613451", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia +is_a: MONDO:0016643 {source="DC-OMIM:613451", source="DOID:0081046", source="OMIM:613451", source="Orphanet:228390"} ! frontonasal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/450 {source="MONDO:mim2gene_medgen"} ! ALX4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -303114,7 +303475,7 @@ xref: MEDGEN:462056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613456 {source="Orphanet:306542/e", source="MONDO:equivalentTo", source="Orphanet:306542"} xref: Orphanet:306542 {source="OMIM:613456", source="MONDO:equivalentTo"} xref: UMLS:C3150706 {source="MONDO:equivalentTo", source="MEDGEN:462056", source="MONDO:MEDGEN"} -is_a: MONDO:0016643 {source="DC-OMIM:613456", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia +is_a: MONDO:0016643 {source="DC-OMIM:613456", source="DOID:0081047", source="OMIM:613456", source="Orphanet:306542"} ! frontonasal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1494 {source="MONDO:mim2gene_medgen"} ! ALX1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome" xsd:anyURI {source="GARD:0012640"} @@ -303283,7 +303644,7 @@ xref: OMIM:613477 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:613477"} xref: UMLS:C3150731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462081"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:613477", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613477", source="DOID:0080438", source="MONDO:Redundant", source="OMIM:613477"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 ! SPTAN1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11273 {source="MONDO:mim2gene_medgen"} ! SPTAN1 @@ -303308,7 +303669,7 @@ xref: MEDGEN:1652857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613480 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:613480"} xref: UMLS:C4747646 {source="MEDGEN:1652857", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:613480", source="Orphanet:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="DOID:0070208", source="MONDO:Redundant", source="OMIM:613480", source="Orphanet:79452/btnt"} ! lymphatic malformation intersection_of: MONDO:0019313 ! lymphatic malformation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 ! GJC2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17494 {source="MONDO:mim2gene_medgen"} ! GJC2 @@ -303404,7 +303765,7 @@ xref: Orphanet:263501 {source="OMIM:613489", source="MONDO:equivalentTo"} xref: SCTID:718751000 {source="MONDO:equivalentTo"} xref: UMLS:C4303552 {source="MONDO:equivalentTo", source="MEDGEN:929221", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005501 {source="DC-OMIM:613489", source="OMIM:613489"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:613489", source="DOID:0070262", source="OMIM:613489"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:263501"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021136 ! rare @@ -303485,7 +303846,7 @@ xref: MEDGEN:462088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613493 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613493"} xref: UMLS:C3150738 {source="MEDGEN:462088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:613493", source="OMIM:613493"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:613493", source="DOID:0081146", source="OMIM:613493"} ! common variable immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1633 {source="MONDO:mim2gene_medgen"} ! CD19 [Term] @@ -303506,7 +303867,7 @@ xref: MEDGEN:462089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613494 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613494"} xref: UMLS:C3150739 {source="MONDO:equivalentTo", source="MEDGEN:462089", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:613494", source="OMIM:613494"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:613494", source="DOID:0081147", source="OMIM:613494"} ! common variable immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17755 {source="MONDO:mim2gene_medgen"} ! TNFRSF13C [Term] @@ -303529,7 +303890,7 @@ xref: MEDGEN:462090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613495 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613495"} xref: UMLS:C3150740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462090"} -is_a: MONDO:0015517 {source="DC-OMIM:613495", source="MONDO:Redundant", source="OMIM:613495"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:613495", source="DOID:0081148", source="MONDO:Redundant", source="OMIM:613495"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 ! MS4A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7315 {source="MONDO:mim2gene_medgen"} ! MS4A1 @@ -303555,7 +303916,7 @@ xref: MEDGEN:462091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613496 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:613496"} xref: UMLS:C3150741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462091"} -is_a: MONDO:0015517 {source="DC-OMIM:613496", source="MONDO:Redundant", source="OMIM:613496"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:613496", source="DOID:0081149", source="MONDO:Redundant", source="OMIM:613496"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 ! CD81 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1701 {source="MONDO:mim2gene_medgen"} ! CD81 @@ -303761,7 +304122,7 @@ xref: MEDGEN:462107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613517 {source="MONDO:equivalentTo", source="DOID:0060835"} xref: Orphanet:2542 {source="DOID:0060835", source="OMIM:613517"} xref: UMLS:C3150757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462107"} -is_a: MONDO:0000062 {source="DC-OMIM:613517", source="MONDO:Redundant", source="OMIM:613517"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:613517", source="DOID:0060835", source="MONDO:Redundant", source="OMIM:613517"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/39433 ! PRSS56 @@ -304106,7 +304467,7 @@ xref: OMIM:613559 {source="MONDO:equivalentTo", source="Orphanet:254930", source xref: Orphanet:254930 {source="MONDO:equivalentTo", source="OMIM:613559"} xref: SCTID:763204003 {source="MONDO:equivalentTo"} xref: UMLS:C3150801 {source="MEDGEN:462151", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:613559", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:613559", source="DOID:0111487", source="MONDO:Redundant", source="OMIM:613559"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26784 {source="MONDO:mim2gene_medgen"} ! MTRFR @@ -304131,7 +304492,7 @@ xref: MEDGEN:462152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613561 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:613561"} xref: UMLS:C3150802 {source="MEDGEN:462152", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000863 {source="MONDO:Redundant", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia +is_a: MONDO:0000863 {source="DOID:0111186", source="MONDO:Redundant", source="OMIM:613561", source="Orphanet:2598/btnt"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 ! YARS2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24249 {source="MONDO:mim2gene_medgen"} ! YARS2 @@ -304479,7 +304840,7 @@ xref: MESH:C567098 {source="MONDO:equivalentTo"} xref: OMIM:613608 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:613608"} xref: UMLS:C3150860 {source="MONDO:equivalentTo", source="MEDGEN:462210", source="MONDO:MEDGEN"} -is_a: MONDO:0000160 {source="DC-OMIM:613608", source="OMIM:613608"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DC-OMIM:613608", source="DOID:0111695", source="OMIM:613608"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy [Term] @@ -304503,7 +304864,7 @@ xref: MEDGEN:462224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613610 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:613610"} xref: UMLS:C3150874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462224"} -is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:613610", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="DOID:0080804", source="MONDO:Redundant", source="OMIM:613610", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29250 ! WDR35 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613610"} ! Autosomal recessive inheritance @@ -304564,7 +304925,7 @@ xref: Orphanet:263487 {source="MONDO:equivalentTo", source="OMIM:613612"} xref: SCTID:721100009 {source="MONDO:equivalentTo"} xref: UMLS:C3150876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462226"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:indirect", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0005501 {source="DC-OMIM:613612", source="OMIM:613612"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:613612", source="DOID:0070261", source="OMIM:613612"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:263487"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital @@ -304621,7 +304982,7 @@ xref: Orphanet:416 {source="OMIM:613616"} xref: Orphanet:93600 {source="MONDO:equivalentTo", source="OMIM:613616"} xref: SCTID:734990008 {source="MONDO:equivalentTo"} xref: UMLS:C3150878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462228"} -is_a: MONDO:0002474 {source="DC-OMIM:613616", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria +is_a: MONDO:0002474 {source="DC-OMIM:613616", source="DOID:0111672", source="MONDO:Redundant", source="NCIT:C123214", source="OMIM:613616", source="Orphanet:93600"} ! primary hyperoxaluria intersection_of: MONDO:0002474 ! primary hyperoxaluria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 ! HOGA1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25155 {source="MONDO:mim2gene_medgen"} ! HOGA1 @@ -305013,7 +305374,7 @@ synonym: "susceptibility to migraine with or without aura 13" RELATED [OMIM:6136 xref: MEDGEN:462258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613656 {source="MONDO:equivalentTo"} xref: UMLS:C3150908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462258"} -is_a: MONDO:0100246 {source="DC-OMIM:613656", source="MONDO:Redundant", source="OMIM:613656/inferred"} ! migraine with or without aura, susceptibility to +is_a: MONDO:0100246 {source="DC-OMIM:613656", source="MONDO:Redundant", source="OMIM:613656", source="OMIM:613656/inferred"} ! migraine with or without aura, susceptibility to intersection_of: MONDO:0100246 ! migraine with or without aura, susceptibility to intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19439 ! KCNK18 intersection_of: predisposes_towards MONDO:0005277 ! migraine disorder @@ -305037,7 +305398,7 @@ xref: MEDGEN:462259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613657 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="OMIM:613657"} xref: UMLS:C3150909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462259"} -is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:613657", source="Orphanet:79315/btnt"} ! D-2-hydroxyglutaric aciduria +is_a: MONDO:0010924 {source="DOID:0111352", source="MONDO:Redundant", source="OMIM:613657", source="Orphanet:79315/btnt"} ! D-2-hydroxyglutaric aciduria intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 ! IDH2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5383 {source="MONDO:mim2gene_medgen"} ! IDH2 @@ -305075,7 +305436,7 @@ xref: OMIM:613660 {source="MONDO:equivalentTo", source="DOID:0111021"} xref: Orphanet:1872 {source="OMIM:613660"} xref: Orphanet:791 {source="OMIM:613660"} xref: UMLS:C3150912 {source="MEDGEN:462262", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:613660", source="DOID:0111021", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:613660", source="DOID:0111021", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:613660"} ! cone-rod dystrophy is_a: MONDO:0019200 {source="DC-OMIM:613660", source="OMIM:613660"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14550 ! CDHR1 @@ -305110,7 +305471,7 @@ xref: OMIM:613661 {source="Orphanet:280071", source="MONDO:equivalentTo", source xref: Orphanet:280071 {source="OMIM:613661", source="MONDO:equivalentTo"} xref: SCTID:733085004 {source="MONDO:equivalentTo"} xref: UMLS:C3150913 {source="MEDGEN:462263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:613661"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:613661", source="DOID:0080567", source="OMIM:613661"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0013349/inferred", source="MONDO:Redundant", source="OMIM:613661", source="Orphanet:280071/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:280071"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -305131,7 +305492,7 @@ xref: MEDGEN:462264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613662 {source="DOID:0080123", source="MONDO:equivalentTo"} xref: Orphanet:298 {source="OMIM:613662", source="MONDO:relatedTo"} xref: UMLS:C3150914 {source="MEDGEN:462264", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018158 {source="DC-OMIM:613662", source="OMIM:613662"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:613662", source="DOID:0080123", source="OMIM:613662"} ! mitochondrial DNA depletion syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9179 {source="MONDO:mim2gene_medgen"} ! POLG [Term] @@ -305180,7 +305541,7 @@ xref: MEDGEN:862201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613670 {source="Orphanet:391372", source="MONDO:equivalentTo", source="Orphanet:391372/e"} xref: Orphanet:391372 {source="MONDO:equivalentTo", source="OMIM:613670"} xref: UMLS:C4013764 {source="MEDGEN:862201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000508 {source="Orphanet:391372", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability +is_a: MONDO:0000508 {source="DOID:0111331", source="Orphanet:391372", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3823 {source="MONDO:mim2gene_medgen"} ! FOXP1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -305268,7 +305629,7 @@ xref: OMIM:613673 {source="Orphanet:293825", source="MONDO:equivalentTo", source xref: Orphanet:293825 {source="OMIM:613673", source="MONDO:equivalentTo"} xref: SCTID:719453009 {source="MONDO:equivalentTo"} xref: UMLS:C3150926 {source="MONDO:equivalentTo", source="MEDGEN:462276", source="MONDO:MEDGEN"} -is_a: MONDO:0019403 {source="DC-OMIM:613673", source="OMIM:613673", source="Orphanet:293825"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="DC-OMIM:613673", source="DOID:0111400", source="OMIM:613673", source="Orphanet:293825"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6345 {source="MONDO:mim2gene_medgen"} ! KLF1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -305393,7 +305754,7 @@ xref: OMIM:613677 {source="Orphanet:251274", source="MONDO:equivalentTo", source xref: Orphanet:251274 {source="OMIM:613677", source="MONDO:equivalentTo"} xref: SCTID:703234002 {source="MONDO:equivalentTo"} xref: UMLS:C3838758 {source="MEDGEN:824604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016525 {source="Orphanet:251274"} ! familial hyperaldosteronism +is_a: MONDO:0016525 {source="OMIM:613677", source="Orphanet:251274"} ! familial hyperaldosteronism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6266 {source="MONDO:mim2gene_medgen"} ! KCNJ5 [Term] @@ -305684,7 +306045,7 @@ xref: OMIM:613690 {source="DOID:0110313", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613690"} xref: UMLS:C1860752 {source="MEDGEN:348695", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:613690", source="DOID:0110313", source="MONDO:Redundant", source="OMIM:613690", source="OMIM:613690/inferred"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613690"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110313", source="MONDO:OMIM", source="OMIM:613690"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 ! TNNI3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11947 {source="MONDO:mim2gene_medgen"} ! TNNI3 @@ -305828,7 +306189,7 @@ xref: MEDGEN:462317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613702 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="OMIM:613702"} xref: UMLS:C3150967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462317"} -is_a: MONDO:0001029 {source="MONDO:Redundant", source="OMIM:613702", source="OMIM:613702/inferred"} ! Klippel-Feil syndrome +is_a: MONDO:0001029 {source="DOID:0080591", source="MONDO:Redundant", source="OMIM:613702", source="OMIM:613702/inferred"} ! Klippel-Feil syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 {source="MONDO:mim2gene_medgen"} ! GDF3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -305870,7 +306231,7 @@ xref: MEDGEN:462319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613704 {source="MONDO:equivalentTo", source="DOID:0060838"} xref: Orphanet:2542 {source="OMIM:613704", source="DOID:0060838"} xref: UMLS:C3150969 {source="MEDGEN:462319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000062 {source="DC-OMIM:613704", source="MONDO:Redundant", source="OMIM:613704"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:613704", source="DOID:0060838", source="MONDO:Redundant", source="OMIM:613704"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4218 ! GDF3 @@ -305947,7 +306308,7 @@ xref: MEDGEN:462321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613707 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="OMIM:613707"} xref: UMLS:C3150971 {source="MEDGEN:462321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007893 {source="MONDO:Redundant", source="OMIM:613707", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines +is_a: MONDO:0007893 {source="DOID:0080550", source="MONDO:Redundant", source="OMIM:613707", source="Orphanet:500/btnt"} ! Noonan syndrome with multiple lentigines intersection_of: MONDO:0007893 ! Noonan syndrome with multiple lentigines intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1097 ! BRAF relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613707"} ! Autosomal dominant inheritance @@ -306062,7 +306423,7 @@ xref: MEDGEN:462333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613717 {source="MONDO:equivalentTo"} xref: Orphanet:861 {source="OMIM:613717"} xref: UMLS:C3150983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462333"} -is_a: MONDO:0002457 {source="MONDO:Redundant", source="OMIM:613717"} ! Treacher-Collins syndrome +is_a: MONDO:0002457 {source="DOID:0080790", source="MONDO:Redundant", source="OMIM:613717"} ! Treacher-Collins syndrome intersection_of: MONDO:0002457 ! Treacher-Collins syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20422 ! POLR1D relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613717"} ! Autosomal dominant inheritance @@ -306123,7 +306484,7 @@ xref: MEDGEN:462336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613720 {source="Orphanet:439218", source="MONDO:equivalentTo", source="Orphanet:439218/e"} xref: Orphanet:439218 {source="MONDO:equivalentTo"} xref: UMLS:C3150986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462336"} -is_a: MONDO:0100062 {source="DC-OMIM:613720", source="OMIM:613720"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613720", source="DOID:0080462", source="OMIM:613720"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6296 {source="MONDO:mim2gene_medgen"} ! KCNQ2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -306146,7 +306507,7 @@ xref: GARD:15699 {source="MONDO:GARD"} xref: MEDGEN:462337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613721 {source="MONDO:equivalentTo"} xref: UMLS:C3150987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462337"} -is_a: MONDO:0100062 {source="DC-OMIM:613721", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:613721", source="DOID:0080421", source="MONDO:Redundant", source="OMIM:613721"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 ! SCN2A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10588 {source="MONDO:mim2gene_medgen"} ! SCN2A @@ -306264,7 +306625,7 @@ xref: MEDGEN:462348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613728 {source="MONDO:equivalentTo", source="Orphanet:284289", source="DOID:0050999", source="Orphanet:284289/e"} xref: Orphanet:284289 {source="MONDO:equivalentTo", source="OMIM:613728"} xref: UMLS:C3150998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462348"} -is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0050999", source="MONDO:Redundant", source="OMIM:613728", source="Orphanet:284289"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 ! ANO10 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25519 {source="MONDO:mim2gene_medgen"} ! ANO10 @@ -306458,7 +306819,7 @@ xref: Orphanet:168558 {source="OMIM:613743", source="MONDO:equivalentTo"} xref: UMLS:C3151055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462405"} is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder is_a: MONDO:0005151 ! endocrine system disorder -is_a: MONDO:0005495 {source="MONDO:Entailed", source="Orphanet:168558", source="Orphanet:168558/inferred"} ! adrenal gland disorder +is_a: MONDO:0005495 {source="DOID:0050546", source="MONDO:Entailed", source="Orphanet:168558", source="Orphanet:168558/inferred"} ! adrenal gland disorder is_a: MONDO:0020040 {source="https://orcid.org/0000-0002-5002-8648"} ! 46,XY disorder of sex development is_a: MONDO:0021147 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of development or morphogenesis relationship: excluded_subClassOf MONDO:0015129 {source="Orphanet:168558", source="https://orcid.org/0000-0001-5208-3432"} ! chronic primary adrenal insufficiency @@ -306669,7 +307030,7 @@ xref: OMIM:613759 {source="MONDO:equivalentTo", source="Orphanet:306550", source xref: Orphanet:306550 {source="MONDO:equivalentTo", source="OMIM:613759"} xref: SCTID:723334006 {source="MONDO:equivalentTo"} xref: UMLS:C3151062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462412"} -is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="OMIM:613759", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3573 {source="MONDO:mim2gene_medgen"} ! FADD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -306718,7 +307079,7 @@ xref: OMIM:613762 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:613762"} xref: Orphanet:251510 {source="OMIM:613762"} xref: UMLS:C3151064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462414"} -is_a: MONDO:0010765 {source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111769", source="OMIM:613762", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6848 {source="MONDO:mim2gene_medgen"} ! MAP3K1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -306777,7 +307138,7 @@ xref: Orphanet:155 {source="OMIM:613765"} xref: UMLS:C1861065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348780"} is_a: MONDO:0005045 {source="DC-OMIM:613765", source="DOID:0110315", source="MESH:C566044/inferred", source="MONDO:Redundant", source="OMIM:613765"} ! hypertrophic cardiomyopathy is_a: MONDO:0016191 ! qualitative or quantitative defects of titin -is_a: MONDO:0024573 {source="MESH:C566044", source="MONDO:OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110315", source="MESH:C566044", source="MONDO:OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy is_a: MONDO:0100494 {source="https://orcid.org/0000-0001-9310-0163"} ! autosomal dominant titinopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12403 ! TTN @@ -307172,7 +307533,7 @@ xref: Orphanet:284984 {source="OMIM:613795", source="MONDO:equivalentTo"} xref: UMLS:C3151087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462437"} is_a: MONDO:0005385 ! vascular disorder is_a: MONDO:0017310 {source="MONDO:Redundant", source="Orphanet:284984"} ! Marfan and Marfan-related disorder -is_a: MONDO:0018954 {source="DC-OMIM:613795", source="OMIM:613795"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DC-OMIM:613795", source="DOID:0070237", source="OMIM:613795"} ! Loeys-Dietz syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:613795", source="Orphanet:284984"} ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6769 {source="MONDO:mim2gene_medgen"} ! SMAD3 @@ -307200,6 +307561,7 @@ xref: MEDGEN:462438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613796 {source="Orphanet:391311/e", source="MONDO:equivalentTo", source="Orphanet:391311"} xref: Orphanet:391311 {source="OMIM:613796", source="MONDO:equivalentTo"} xref: UMLS:C3151088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462438"} +is_a: MONDO:0006025 {source="DOID:0111944"} ! autosomal recessive disease is_a: MONDO:0021094 {source="OMIM:613796"} ! immunodeficiency disease relationship: has_characteristic HP:0000007 {source="OMIM:613796"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 {source="MONDO:mim2gene_medgen"} ! STAT1 @@ -307224,7 +307586,7 @@ xref: MEDGEN:462447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613800 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613800"} xref: UMLS:C3151097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462447"} -is_a: MONDO:0016817 {source="DC-OMIM:613800", source="MONDO:Redundant", source="OMIM:613800"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:613800", source="DOID:0080513", source="MONDO:Redundant", source="OMIM:613800"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8490 ! ORC4 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613800"} ! Autosomal recessive inheritance @@ -307275,7 +307637,7 @@ xref: MEDGEN:462463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613803 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613803"} xref: UMLS:C3151113 {source="MONDO:equivalentTo", source="MEDGEN:462463", source="MONDO:MEDGEN"} -is_a: MONDO:0016817 {source="DC-OMIM:613803", source="MONDO:Redundant", source="OMIM:613803"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:613803", source="DOID:0080514", source="MONDO:Redundant", source="OMIM:613803"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17151 ! ORC6 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613803"} ! Autosomal recessive inheritance @@ -307302,7 +307664,7 @@ xref: MEDGEN:462470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613804 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613804"} xref: UMLS:C3151120 {source="MEDGEN:462470", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016817 {source="DC-OMIM:613804", source="MONDO:Redundant", source="OMIM:613804"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:613804", source="DOID:0080515", source="MONDO:Redundant", source="OMIM:613804"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24576 ! CDT1 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613804"} ! Autosomal recessive inheritance @@ -307328,7 +307690,7 @@ xref: MEDGEN:462476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613805 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613805"} xref: UMLS:C3151126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462476"} -is_a: MONDO:0016817 {source="DC-OMIM:613805", source="MONDO:Redundant", source="OMIM:613805"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:613805", source="DOID:0080516", source="MONDO:Redundant", source="OMIM:613805"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1744 ! CDC6 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:613805"} ! Autosomal recessive inheritance @@ -307491,7 +307853,7 @@ xref: MEDGEN:462490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613811 {source="MONDO:equivalentTo", source="DOID:0060270"} xref: Orphanet:2524 {source="OMIM:613811", source="DOID:0060270"} xref: UMLS:C3151140 {source="MEDGEN:462490", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="DOID:0060270", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="DOID:0060270", source="MONDO:Redundant", source="OMIM:613811"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30605 ! SEPSECS @@ -307751,7 +308113,7 @@ xref: MEDGEN:462541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613828 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:613828"} xref: UMLS:C3151191 {source="MEDGEN:462541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018214 {source="DC-OMIM:613828", source="OMIM:613828"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:613828", source="DOID:0111299", source="OMIM:613828"} ! generalized epilepsy with febrile seizures plus [Term] id: MONDO:0013449 @@ -307915,7 +308277,7 @@ xref: OMIM:613838 {source="MONDO:equivalentTo", source="DOID:0110322"} xref: Orphanet:155 {source="OMIM:613838"} xref: UMLS:C3151204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462554"} is_a: MONDO:0005045 {source="DC-OMIM:613838", source="DOID:0110322", source="MONDO:Redundant", source="OMIM:613838"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613838"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110322", source="MONDO:OMIM", source="OMIM:613838"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 ! MYOZ2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1330 {source="MONDO:mim2gene_medgen"} ! MYOZ2 @@ -308182,7 +308544,7 @@ xref: MEDGEN:462572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613857 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:613857"} xref: UMLS:C3151222 {source="MEDGEN:462572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="DC-OMIM:613857", source="OMIM:613857"} ! orofacial cleft +is_a: MONDO:0000358 {source="DC-OMIM:613857", source="DOID:0080406", source="OMIM:613857"} ! orofacial cleft relationship: has_characteristic MONDO:0021128 ! has an isolated presentation [Term] @@ -308284,7 +308646,7 @@ xref: MESH:C567827 {source="MONDO:equivalentTo"} xref: OMIM:613863 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:613863"} xref: UMLS:C2751778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416630"} -is_a: MONDO:0018214 {source="DC-OMIM:613863", source="MONDO:Redundant", source="OMIM:613863"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:613863", source="DOID:0111295", source="MONDO:Redundant", source="OMIM:613863"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 ! SCN9A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10597 {source="MONDO:mim2gene_medgen"} ! SCN9A @@ -308339,7 +308701,7 @@ xref: OMIM:613869 {source="Orphanet:280553/e", source="MONDO:equivalentTo", sour xref: Orphanet:280553 {source="MONDO:equivalentTo", source="OMIM:613869"} xref: UMLS:C5190691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684001"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0018943 {source="PMID:3672701", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080309", source="OMIM:613869", source="PMID:3672701", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0009-0001-6494-4831"} ! myofibrillar myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2389 {source="MONDO:mim2gene_medgen"} ! CRYAB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -308380,7 +308742,7 @@ xref: OMIM:613873 {source="MONDO:equivalentTo", source="DOID:0110323"} xref: Orphanet:155 {source="OMIM:613873"} xref: UMLS:C3151264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462614"} is_a: MONDO:0005045 {source="DC-OMIM:613873", source="DOID:0110323", source="MONDO:Redundant", source="OMIM:613873"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110323", source="MONDO:OMIM", source="OMIM:613873"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 ! JPH2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14202 {source="MONDO:mim2gene_medgen"} ! JPH2 @@ -308407,7 +308769,7 @@ xref: OMIM:613874 {source="DOID:0110324", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613874"} xref: UMLS:C3151265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462615"} is_a: MONDO:0005045 {source="DC-OMIM:613874", source="DOID:0110324", source="MONDO:Redundant", source="OMIM:613874"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613874"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110324", source="MONDO:OMIM", source="OMIM:613874"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 ! PLN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9080 {source="MONDO:mim2gene_medgen"} ! PLN @@ -308458,7 +308820,7 @@ xref: OMIM:613876 {source="DOID:0110326", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613876"} xref: UMLS:C3151267 {source="MEDGEN:462617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:613876", source="DOID:0110326", source="MONDO:Redundant", source="OMIM:613876"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110326", source="MONDO:OMIM", source="OMIM:613876"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 ! NEXN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29557 {source="MONDO:mim2gene_medgen"} ! NEXN @@ -308487,7 +308849,7 @@ xref: MEDGEN:1675945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613877 {source="Orphanet:280356/e", source="MONDO:equivalentTo", source="Orphanet:280356"} xref: Orphanet:280356 {source="MONDO:equivalentTo", source="OMIM:613877"} xref: UMLS:C5191005 {source="MEDGEN:1675945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020088 {source="DC-OMIM:613877", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy +is_a: MONDO:0020088 {source="DC-OMIM:613877", source="DOID:0070205", source="OMIM:613877", source="Orphanet:280356"} ! familial partial lipodystrophy relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9076 {source="MONDO:mim2gene_medgen"} ! PLIN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5723" xsd:anyURI @@ -308769,7 +309131,7 @@ xref: OMIM:613925 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:613925"} xref: UMLS:C3151355 {source="MEDGEN:462705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613925"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts +is_a: MONDO:0011391 {source="DOID:0080318", source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM [Term] @@ -308789,7 +309151,7 @@ xref: OMIM:613926 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:613926"} xref: UMLS:C3151356 {source="MEDGEN:462706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:613926"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0011391 {source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts +is_a: MONDO:0011391 {source="DOID:0080317", source="Orphanet:2478/btnt"} ! megalencephalic leukoencephalopathy with subcortical cysts relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26361 {source="MONDO:mim2gene_medgen"} ! HEPACAM [Term] @@ -308807,7 +309169,7 @@ xref: MEDGEN:462712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613930 {source="MONDO:equivalentTo"} xref: Orphanet:2850 {source="OMIM:613930"} xref: UMLS:C3151362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462712"} -is_a: MONDO:0008756 {source="OMIM:613930"} ! alopecia - intellectual disability syndrome +is_a: MONDO:0008756 {source="DOID:0080951", source="OMIM:613930"} ! alopecia - intellectual disability syndrome [Term] id: MONDO:0013493 @@ -308854,7 +309216,7 @@ xref: MEDGEN:765943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613943 {source="MONDO:equivalentTo", source="DOID:0060717"} xref: Orphanet:313 {source="OMIM:613943"} xref: UMLS:C3553029 {source="MEDGEN:765943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017265 {source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis +is_a: MONDO:0017265 {source="DOID:0060717", source="MONDO:Redundant", source="OMIM:613943"} ! autosomal recessive congenital ichthyosis is_a: MONDO:0017778 {source="Orphanet:313/btnt"} ! lamellar ichthyosis intersection_of: MONDO:0017265 ! autosomal recessive congenital ichthyosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23452 ! LIPN @@ -308873,6 +309235,7 @@ xref: OMIM:613944 {source="MONDO:equivalentTo"} xref: Orphanet:34145 {source="OMIM:613944"} xref: UMLS:C3151378 {source="MEDGEN:462728", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:613944", source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility +is_a: MONDO:0100555 {source="OMIM:613944"} ! IgA nephropathy, susceptibility to relationship: excluded_subClassOf MONDO:0005342 {source="OMIM:613944", source="https://orcid.org/0000-0001-5208-3432"} ! IgA glomerulonephritis relationship: predisposes_towards MONDO:0005342 {source="OMIM:613944"} ! IgA glomerulonephritis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4882" xsd:anyURI @@ -308983,7 +309346,7 @@ xref: Orphanet:275872 {source="OMIM:613954"} xref: Orphanet:803 {source="OMIM:613954"} xref: UMLS:C5436279 {source="MEDGEN:1759760", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005144 {source="DOID:0060205", source="MONDO:Redundant", source="OMIM:613954"} ! familial amyotrophic lateral sclerosis -is_a: MONDO:0017161 {source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease +is_a: MONDO:0017161 {source="OMIM:613954", source="Orphanet:275872/btnt"} ! frontotemporal dementia with motor neuron disease is_a: MONDO:0030923 {source="OMIM:613954"} ! frontotemporal dementia and/or amyotrophic lateral sclerosis intersection_of: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12666 ! VCP @@ -309004,7 +309367,7 @@ xref: MEDGEN:462754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613955 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="OMIM:613955"} xref: UMLS:C3151404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462754"} -is_a: MONDO:0007101 {source="MONDO:Redundant", source="Orphanet:353220/btnt"} ! familial primary localized cutaneous amyloidosis +is_a: MONDO:0007101 {source="MONDO:Redundant", source="OMIM:613955", source="Orphanet:353220/btnt"} ! familial primary localized cutaneous amyloidosis intersection_of: MONDO:0007101 ! familial primary localized cutaneous amyloidosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 ! IL31RA relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18969 {source="MONDO:mim2gene_medgen"} ! IL31RA @@ -309050,7 +309413,7 @@ xref: MEDGEN:462756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613957 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:613957"} xref: UMLS:C3151406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462756"} -is_a: MONDO:0004983 {source="DC-OMIM:613957", source="MONDO:Redundant", source="OMIM:613957"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:613957", source="DOID:0070169", source="MONDO:Redundant", source="OMIM:613957"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7983 ! NR5A1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7983 ! NR5A1 @@ -309079,7 +309442,7 @@ xref: Orphanet:171709 {source="OMIM:613958"} xref: Orphanet:399808 {source="OMIM:613958"} xref: UMLS:C3151407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462757"} is_a: MONDO:0004983 {source="DC-OMIM:613958", source="MONDO:Redundant", source="OMIM:613958"} ! spermatogenic failure -is_a: MONDO:0015746 {source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia +is_a: MONDO:0015746 {source="DOID:0111156", source="Orphanet:171709/btnt"} ! male infertility due to globozoospermia intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19414 ! DPY19L2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19414 ! DPY19L2 @@ -309121,7 +309484,7 @@ xref: NANDO:2201283 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:613960 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:613960"} xref: UMLS:C3151409 {source="MEDGEN:462759", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018305 {source="DC-OMIM:613960", source="OMIM:613960"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DC-OMIM:613960", source="DOID:0070194", source="OMIM:613960"} ! chronic granulomatous disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7662 {source="MONDO:mim2gene_medgen"} ! NCF4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -309182,6 +309545,7 @@ xref: MEDGEN:462767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613972 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613972"} xref: UMLS:C3151417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462767"} +is_a: MONDO:0024462 {source="OMIM:613972"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12830 ! XRCC3 intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -309417,6 +309781,7 @@ xref: NCIT:C176926 {source="MONDO:equivalentTo"} xref: OMIM:613987 {source="MONDO:equivalentTo", source="DOID:0070017"} xref: Orphanet:1775 {source="OMIM:613987"} xref: UMLS:C3151441 {source="MEDGEN:462791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0070017"} ! autosomal recessive disease is_a: MONDO:0015780 {source="DC-OMIM:613987", source="DOID:0070017", source="MONDO:Redundant", source="OMIM:613987"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -309441,6 +309806,7 @@ xref: NCIT:C176927 {source="MONDO:equivalentTo"} xref: OMIM:613988 {source="MONDO:equivalentTo", source="DOID:0070019"} xref: Orphanet:1775 {source="OMIM:613988"} xref: UMLS:C3151442 {source="MEDGEN:462792", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0070019"} ! autosomal recessive disease is_a: MONDO:0015780 {source="DC-OMIM:613988", source="DOID:0070019", source="MONDO:Redundant", source="OMIM:613988"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -309469,6 +309835,7 @@ xref: OMIM:613989 {source="DOID:0070016", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:613989"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613989"} xref: UMLS:C3151443 {source="MONDO:equivalentTo", source="MEDGEN:462793", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0070016"} ! autosomal dominant disease is_a: MONDO:0015780 {source="DOID:0070016", source="MONDO:Redundant", source="OMIM:613989"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -309495,6 +309862,7 @@ xref: OMIM:613990 {source="MONDO:equivalentTo", source="DOID:0070018"} xref: Orphanet:1775 {source="OMIM:613990"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:613990"} xref: UMLS:C3151445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462795"} +is_a: MONDO:0000426 {source="DOID:0070018"} ! autosomal dominant disease is_a: MONDO:0015780 {source="DOID:0070018", source="MONDO:Redundant", source="OMIM:613990"} ! dyskeratosis congenita intersection_of: MONDO:0015780 ! dyskeratosis congenita intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -309522,10 +309890,11 @@ xref: MEDGEN:462796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614008 {source="Orphanet:280576/e", source="MONDO:equivalentTo", source="Orphanet:280576"} xref: Orphanet:280576 {source="MONDO:equivalentTo", source="OMIM:614008"} xref: UMLS:C3151446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462796"} +is_a: MONDO:0006025 {source="DOID:0081334"} ! autosomal recessive disease is_a: MONDO:0015333 {source="MONDO:Redundant", source="Orphanet:280576"} ! progeroid syndrome is_a: MONDO:0019303 {source="MONDO:Redundant", source="Orphanet:280576"} ! premature aging syndrome is_a: MONDO:0019707 {source="MONDO:Redundant", source="Orphanet:280576"} ! primary osteolysis -is_a: MONDO:0020732 {source="MONDO:OMIMPS"} ! progeria +is_a: MONDO:0020732 {source="MONDO:OMIMPS", source="OMIM:614008"} ! progeria relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614008", source="Orphanet:280576"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17397 {source="MONDO:mim2gene_medgen"} ! BANF1 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome" xsd:anyURI {source="GARD:0011008"} @@ -309595,7 +309964,7 @@ xref: MEDGEN:1681379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614018 {source="Orphanet:280620/e", source="MONDO:equivalentTo", source="Orphanet:280620"} xref: Orphanet:280620 {source="OMIM:614018", source="MONDO:equivalentTo"} xref: UMLS:C5190805 {source="MEDGEN:1681379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020074 {source="DC-OMIM:614018", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:614018", source="DOID:0111449", source="MONDO:Redundant", source="OMIM:614018", source="Orphanet:280620"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 ! GOSR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4431 {source="MONDO:mim2gene_medgen"} ! GOSR2 @@ -309621,7 +309990,7 @@ xref: MEDGEN:462811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614019 {source="MONDO:equivalentTo"} xref: Orphanet:1083 {source="OMIM:614019"} xref: UMLS:C3151461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462811"} -is_a: MONDO:0015204 {source="Orphanet:1083/btnt"} ! microlissencephaly +is_a: MONDO:0015204 {source="DOID:0112235", source="Orphanet:1083/btnt"} ! microlissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:614019"} ! lissencephaly spectrum disorders is_a: MONDO:0700116 {source="https://www.clinicalgenome.org/affiliation/40020/"} ! microcephaly with lissencephaly and/or hydranencephaly intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders @@ -309648,7 +310017,7 @@ xref: GARD:22549 {source="MONDO:GARD"} xref: MEDGEN:462812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614020 {source="MONDO:equivalentTo"} xref: UMLS:C3151462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462812"} -is_a: MONDO:0019502 {source="DC-OMIM:614020", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614020", source="DOID:0081188", source="MONDO:Redundant", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 ! TECR relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4551 {source="MONDO:mim2gene_medgen"} ! TECR @@ -310075,7 +310444,7 @@ xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="DOID:0060332", source="OMIM:614053"} xref: UMLS:C3279708 {source="MEDGEN:481338", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="DOID:0060332", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0060332", source="OMIM:614053", source="Orphanet:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 ! ATP5F1E relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/838 {source="MONDO:mim2gene_medgen"} ! ATP5F1E @@ -310496,7 +310865,7 @@ xref: UMLS:C3279775 {source="MEDGEN:481405", source="MONDO:equivalentTo", source is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0015327 ! developmental anomaly of metabolic origin is_a: MONDO:0017748 {source="Orphanet:280633"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:280633"} ! multiple congenital anomalies-hypotonia-seizures syndrome +is_a: MONDO:0100247 {source="DOID:0080138", source="MONDO:Redundant", source="OMIM:614080", source="Orphanet:280633"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8967 ! PIGN relationship: has_characteristic MONDO:0021140 ! congenital @@ -310676,7 +311045,7 @@ xref: OMIM:614096 {source="Orphanet:319504", source="MONDO:equivalentTo", source xref: Orphanet:319504 {source="MONDO:equivalentTo", source="OMIM:614096"} xref: SCTID:733600007 {source="MONDO:equivalentTo"} xref: UMLS:C4518839 {source="MEDGEN:1377817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:614096", source="MONDO:Redundant", source="OMIM:614096"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614096", source="DOID:0111479", source="MONDO:Redundant", source="OMIM:614096"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21022 ! AARS2 @@ -310761,7 +311130,7 @@ xref: MEDGEN:481437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614099 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:614099"} xref: UMLS:C3279807 {source="MEDGEN:481437", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:614099", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="DOID:0080805", source="MONDO:Redundant", source="OMIM:614099", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29669 ! IFT43 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614099"} ! Autosomal recessive inheritance @@ -310881,6 +311250,7 @@ xref: Orphanet:464306 {source="MONDO:equivalentTo"} xref: UMLS:C5568143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799566"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:464306", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:464306"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:614104"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070037", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -310989,7 +311359,7 @@ xref: NCIT:C168989 {source="MONDO:equivalentTo"} xref: OMIM:614114 {source="DOID:0080142", source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="OMIM:614114"} xref: UMLS:C3279843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481473"} -is_a: MONDO:0000141 {source="MONDO:Redundant", source="OMIM:614114"} ! mosaic variegated aneuploidy syndrome +is_a: MONDO:0000141 {source="DOID:0080142", source="MONDO:Redundant", source="OMIM:614114"} ! mosaic variegated aneuploidy syndrome is_a: MONDO:0019040 {source="MONDO:Redundant", source="Orphanet:1052"} ! chromosomal disorder intersection_of: MONDO:0000141 ! mosaic variegated aneuploidy syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30794 ! CEP57 @@ -311079,7 +311449,7 @@ xref: MEDGEN:481529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614120 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="OMIM:614120"} xref: UMLS:C3279899 {source="MEDGEN:481529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006037 {source="DC-OMIM:614120", source="MONDO:Redundant", source="OMIM:614120"} ! hydrolethalus syndrome +is_a: MONDO:0006037 {source="DC-OMIM:614120", source="DOID:0111356", source="MONDO:Redundant", source="OMIM:614120"} ! hydrolethalus syndrome is_a: MONDO:0800463 {source="PMID:21552264", source="PMID:230301500", source="https://clinicalgenome.org/affiliation/40060/"} ! KIF7-related ciliopathy intersection_of: MONDO:0006037 ! hydrolethalus syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30497 ! KIF7 @@ -311226,7 +311596,7 @@ xref: MEDGEN:436517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614135 {source="MONDO:equivalentTo"} xref: Orphanet:166002 {source="OMIM:614135"} xref: UMLS:C2675767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436517"} -is_a: MONDO:0015627 {source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly +is_a: MONDO:0015627 {source="DOID:0070301", source="Orphanet:166002/btnt"} ! multiple epiphyseal dysplasia due to collagen 9 anomaly is_a: MONDO:0016648 {source="MONDO:Redundant", source="OMIM:614135"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2217 ! COL9A1 @@ -311366,7 +311736,7 @@ xref: MESH:C562866 {source="MONDO:equivalentTo"} xref: OMIM:614158 {source="MONDO:equivalentTo", source="DOID:0111047"} xref: SCTID:234477002 {source="MONDO:equivalentTo"} xref: UMLS:C0398635 {source="MEDGEN:98307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="DC-OMIM:614158", source="MONDO:Redundant", source="OMIM:614158"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:614158", source="DOID:0111047", source="MONDO:Redundant", source="OMIM:614158"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0001531 {source="DOID:0111047", source="MONDO:Redundant"} ! blood coagulation disease is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type @@ -311424,6 +311794,7 @@ xref: OMIM:614162 {source="Orphanet:391487/e", source="MONDO:equivalentTo", sour xref: Orphanet:391487 {source="MONDO:equivalentTo"} xref: UMLS:C3279990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481620"} is_a: MONDO:0015126 {source="Orphanet:391487"} ! polyendocrinopathy +is_a: MONDO:0015279 {source="OMIM:614162"} ! chronic mucocutaneous candidiasis is_a: MONDO:0019787 {source="Orphanet:391487"} ! autoimmune enteropathy intersection_of: MONDO:0015279 ! chronic mucocutaneous candidiasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11362 ! STAT1 @@ -311730,7 +312101,7 @@ xref: MEDGEN:481684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614185 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:614185"} xref: UMLS:C3280054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481684"} -is_a: MONDO:0000127 {source="DC-OMIM:614185", source="MONDO:Redundant", source="OMIM:614185"} ! geleophysic dysplasia +is_a: MONDO:0000127 {source="DC-OMIM:614185", source="DOID:0111726", source="MONDO:Redundant", source="OMIM:614185"} ! geleophysic dysplasia is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia intersection_of: MONDO:0000127 ! geleophysic dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3603 ! FBN1 @@ -311919,7 +312290,7 @@ xref: OMIM:249660 {source="MONDO:equivalentObsolete"} xref: OMIM:614199 {source="Orphanet:306507", source="MONDO:equivalentTo", source="Orphanet:306507/e"} xref: Orphanet:306507 {source="MONDO:equivalentObsolete", source="OMIM:614199"} xref: UMLS:C3280113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481743"} -is_a: MONDO:0002350 {source="OMIM:614199"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080380", source="OMIM:614199"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005377 {source="DC-OMIM:614199", source="MONDO:0019987-obsoleted", source="MONDO:Redundant", source="OMIM:614199"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome @@ -311954,7 +312325,7 @@ xref: OMIM:614200 {source="Orphanet:98886", source="MONDO:equivalentTo", source= xref: Orphanet:73271 {source="OMIM:614200"} xref: Orphanet:98886 {source="OMIM:614200", source="MONDO:equivalentTo", source="DOID:0111045"} xref: UMLS:C3280114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481744"} -is_a: MONDO:0000009 {source="DC-OMIM:614200", source="MONDO:Redundant", source="OMIM:614200"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:614200", source="DOID:0111045", source="MONDO:Redundant", source="OMIM:614200"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 ! ITGA2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6137 {source="MONDO:mim2gene_medgen"} ! ITGA2 @@ -311991,7 +312362,7 @@ xref: Orphanet:73271 {source="OMIM:614201"} xref: Orphanet:98885 {source="OMIM:614201", source="MONDO:equivalentTo", source="DOID:0111057"} xref: SCTID:765977002 {source="MONDO:equivalentTo"} xref: UMLS:C3280120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481750"} -is_a: MONDO:0000009 {source="DC-OMIM:614201", source="MONDO:Redundant", source="OMIM:614201"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:614201", source="DOID:0111057", source="MONDO:Redundant", source="OMIM:614201"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 ! GP6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14388 {source="MONDO:mim2gene_medgen"} ! GP6 @@ -312018,7 +312389,7 @@ xref: NCIT:C84392 {source="DOID:1059"} xref: OMIM:614202 {source="MONDO:equivalentTo"} xref: SCTID:154978008 {source="DOID:1059"} xref: UMLS:C3280127 {source="MEDGEN:481757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614202", source="MONDO:Redundant", source="OMIM:614202"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614202", source="DOID:0081097", source="MONDO:Redundant", source="OMIM:614202"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 ! MAN1B1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6823 {source="MONDO:mim2gene_medgen"} ! MAN1B1 @@ -312093,7 +312464,7 @@ xref: SCTID:238612002 {source="MONDO:relatedTo"} xref: SCTID:83839005 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C0392439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:581114"} is_a: MONDO:0003847 {source="OMIM:614204"} ! hereditary disease -is_a: MONDO:0005083 {source="DC-OMIM:614204", source="MONDO:Redundant", source="OMIM:614204"} ! psoriasis +is_a: MONDO:0005083 {source="DC-OMIM:614204", source="DOID:0080474", source="MONDO:Redundant", source="OMIM:614204"} ! psoriasis is_a: MONDO:0005093 {source="MONDO:0019275-obsoleted"} ! skin disorder is_a: MONDO:0019268 {source="MONDO:0019274-obsoleted"} ! epidermal disease is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119057", source="Orphanet:404546/inferred", source="PMID:23827249"} ! autoinflammatory syndrome @@ -312157,7 +312528,7 @@ xref: MEDGEN:481783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614207 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:614207"} xref: UMLS:C3280153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481783"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614207", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070435", source="MONDO:Redundant", source="OMIM:614207", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 ! PGAP2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17893 {source="MONDO:mim2gene_medgen"} ! PGAP2 @@ -312176,7 +312547,7 @@ xref: GARD:22551 {source="MONDO:GARD"} xref: MEDGEN:481784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614208 {source="MONDO:equivalentTo"} xref: UMLS:C3280154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481784"} -is_a: MONDO:0019502 {source="DC-OMIM:614208", source="OMIM:614208"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614208", source="DOID:0081189", source="OMIM:614208"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013630 @@ -312326,7 +312697,7 @@ xref: MEDGEN:481831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614220 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:614220"} xref: UMLS:C3280201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481831"} -is_a: MONDO:0005388 {source="DC-OMIM:614220", source="OMIM:614220"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:614220", source="DOID:0070361", source="OMIM:614220"} ! primary biliary cholangitis [Term] id: MONDO:0013637 @@ -312342,7 +312713,7 @@ xref: MEDGEN:481832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614221 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:614221"} xref: UMLS:C3280202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481832"} -is_a: MONDO:0005388 {source="DC-OMIM:614221", source="OMIM:614221"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:614221", source="DOID:0070362", source="OMIM:614221"} ! primary biliary cholangitis [Term] id: MONDO:0013638 @@ -312677,7 +313048,7 @@ xref: GARD:22552 {source="MONDO:GARD"} xref: MEDGEN:481895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614249 {source="MONDO:equivalentTo"} xref: UMLS:C3280265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481895"} -is_a: MONDO:0019502 {source="DC-OMIM:614249", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614249", source="DOID:0081190", source="MONDO:Redundant", source="OMIM:614249"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 ! MED23 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2372 {source="MONDO:mim2gene_medgen"} ! MED23 @@ -312743,7 +313114,7 @@ xref: MEDGEN:481905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614252 {source="MONDO:equivalentTo"} xref: Orphanet:231160 {source="OMIM:614252"} xref: UMLS:C3280275 {source="MONDO:equivalentTo", source="MEDGEN:481905", source="MONDO:MEDGEN"} -is_a: MONDO:0016483 {source="DC-OMIM:614252", source="OMIM:614252"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DC-OMIM:614252", source="DOID:0080974", source="OMIM:614252"} ! intracranial berry aneurysm [Term] id: MONDO:0013655 @@ -313025,7 +313396,7 @@ xref: Orphanet:90796 {source="OMIM:614279"} xref: SCTID:49013001 {source="MONDO:equivalentTo"} xref: UMLS:C1839840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333416"} is_a: MONDO:0005151 ! endocrine system disorder -is_a: MONDO:0010765 {source="DC-OMIM:614279", source="MESH:C564109", source="OMIM:614279"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DC-OMIM:614279", source="DOID:0111773", source="MESH:C564109", source="OMIM:614279"} ! 46,XY complete gonadal dysgenesis relationship: has_characteristic MONDO:0021136 ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI @@ -313274,7 +313645,7 @@ xref: OMIM:614299 {source="Orphanet:401874", source="DOID:0080134", source="MOND xref: Orphanet:289573 {source="OMIM:614299"} xref: Orphanet:401874 {source="OMIM:614299", source="MONDO:equivalentTo"} xref: UMLS:C3280378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482008"} -is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0080134", source="MONDO:Redundant", source="OMIM:614299", source="Orphanet:401874"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 ! BOLA3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24415 {source="MONDO:mim2gene_medgen"} ! BOLA3 @@ -313589,7 +313960,7 @@ xref: MEDGEN:482101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614324 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:614324"} xref: UMLS:C3280471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482101"} -is_a: MONDO:0009299 {source="MONDO:Redundant", source="OMIM:614324", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080495", source="MONDO:Redundant", source="OMIM:614324", source="Orphanet:243/btnt"} ! 46 XX gonadal dysgenesis intersection_of: MONDO:0009299 ! 46 XX gonadal dysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 ! PSMC3IP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17928 {source="MONDO:mim2gene_medgen"} ! PSMC3IP @@ -313712,7 +314083,7 @@ xref: GARD:22553 {source="MONDO:GARD"} xref: MEDGEN:482153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614329 {source="MONDO:equivalentTo"} xref: UMLS:C3280523 {source="MONDO:equivalentTo", source="MEDGEN:482153", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614329", source="OMIM:614329"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614329", source="DOID:0081191", source="OMIM:614329"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013695 @@ -313775,7 +314146,7 @@ xref: GARD:22554 {source="MONDO:GARD"} xref: MEDGEN:482155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614333 {source="MONDO:equivalentTo"} xref: UMLS:C3280525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482155"} -is_a: MONDO:0019502 {source="DC-OMIM:614333", source="OMIM:614333"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614333", source="DOID:0081192", source="OMIM:614333"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013698 @@ -313791,7 +314162,7 @@ xref: MEDGEN:482156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614335 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="OMIM:614335"} xref: UMLS:C3280526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482156"} -is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism +is_a: MONDO:0015240 {source="DOID:0111598", source="Orphanet:1146/btnt"} ! digitotalar dysmorphism is_a: MONDO:0019942 ! distal arthrogryposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7549 {source="MONDO:mim2gene_medgen"} ! MYBPC1 @@ -313897,7 +314268,7 @@ xref: MEDGEN:482168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614340 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614340"} xref: UMLS:C3280538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482168"} -is_a: MONDO:0019502 {source="DC-OMIM:614340", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614340", source="DOID:0081193", source="MONDO:Redundant", source="OMIM:614340"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 ! LINS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30922 {source="MONDO:mim2gene_medgen"} ! LINS1 @@ -313918,7 +314289,7 @@ xref: MEDGEN:482169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614341 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614341"} xref: UMLS:C3280539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482169"} -is_a: MONDO:0019502 {source="DC-OMIM:614341", source="OMIM:614341"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614341", source="DOID:0081194", source="OMIM:614341"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013704 @@ -313935,7 +314306,7 @@ xref: MEDGEN:482170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614342 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:614342"} xref: UMLS:C3280540 {source="MEDGEN:482170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614342", source="OMIM:614342"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614342", source="DOID:0081195", source="OMIM:614342"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013705 @@ -313967,7 +314338,7 @@ xref: GARD:22559 {source="MONDO:GARD"} xref: MEDGEN:482172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614344 {source="MONDO:equivalentTo"} xref: UMLS:C3280542 {source="MEDGEN:482172", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614344", source="OMIM:614344"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614344", source="DOID:0081196", source="OMIM:614344"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013707 @@ -313983,7 +314354,7 @@ xref: GARD:22560 {source="MONDO:GARD"} xref: MEDGEN:482173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614345 {source="MONDO:equivalentTo"} xref: UMLS:C3280543 {source="MEDGEN:482173", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614345", source="OMIM:614345"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614345", source="DOID:0081197", source="OMIM:614345"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013708 @@ -313999,7 +314370,7 @@ xref: GARD:22561 {source="MONDO:GARD"} xref: MEDGEN:482174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614346 {source="MONDO:equivalentTo"} xref: UMLS:C3280544 {source="MEDGEN:482174", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614346", source="OMIM:614346"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614346", source="DOID:0081198", source="OMIM:614346"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013709 @@ -314015,7 +314386,7 @@ xref: GARD:22562 {source="MONDO:GARD"} xref: MEDGEN:482175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614347 {source="MONDO:equivalentTo"} xref: UMLS:C3280545 {source="MONDO:equivalentTo", source="MEDGEN:482175", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:614347", source="OMIM:614347"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614347", source="DOID:0081199", source="OMIM:614347"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0013710 @@ -314233,7 +314604,7 @@ xref: MEDGEN:482246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614378 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:614378"} xref: UMLS:C3280616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482246"} -is_a: MONDO:0009032 {source="OMIM:614378", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="DOID:0080806", source="OMIM:614378", source="Orphanet:1515/btnt"} ! cranioectodermal dysplasia relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614378"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18340 {source="MONDO:mim2gene_medgen"} ! WDR19 @@ -314425,7 +314796,7 @@ xref: OMIM:614388 {source="Orphanet:330050/e", source="MONDO:equivalentTo", sour xref: Orphanet:330050 {source="OMIM:614388", source="MONDO:equivalentTo"} xref: UMLS:C3280660 {source="MEDGEN:482290", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -is_a: MONDO:0054865 {source="OMIM:614388", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect +is_a: MONDO:0054865 {source="OMIM:614388", source="Orphanet:330050", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2973 {source="MONDO:mim2gene_medgen"} ! DNM1L property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5671" xsd:anyURI @@ -314536,7 +314907,7 @@ xref: NORD:1203 {source="MONDO:NORD"} xref: Orphanet:39812 {source="MONDO:equivalentTo", source="OMIM:614395"} xref: SCTID:234646005 {source="MONDO:equivalentTo"} xref: UMLS:C0018133 {source="MONDO:equivalentTo", source="MEDGEN:9082", source="MONDO:MEDGEN"} -is_a: MONDO:0005046 {source="MESH:D006086", source="MONDO:Redundant", source="Orphanet:39812"} ! immune system disorder +is_a: MONDO:0005046 {source="DOID:0081267", source="MESH:D006086", source="MONDO:Redundant", source="Orphanet:39812"} ! immune system disorder is_a: MONDO:0700222 {source="Orphanet:39812"} ! disease related to hematopoietic stem cell transplant relationship: has_characteristic MONDO:0021136 {source="MONDO:0020008"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -314570,7 +314941,7 @@ xref: OMIM:614399 {source="Orphanet:439212/e", source="MONDO:equivalentTo", sour xref: Orphanet:439212 {source="MONDO:equivalentTo"} xref: Orphanet:98920 {source="OMIM:614399"} xref: UMLS:C3280679 {source="MEDGEN:482309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:614399", source="Orphanet:439212"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0111333", source="OMIM:614399", source="Orphanet:439212"} ! congenital myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29634 {source="MONDO:mim2gene_medgen"} ! MEGF10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1112" xsd:anyURI @@ -314613,7 +314984,7 @@ xref: DOID:0111804 {source="MONDO:equivalentTo"} xref: MEDGEN:765991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614402 {source="MONDO:equivalentTo"} xref: UMLS:C3553077 {source="MEDGEN:765991", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016073 {source="DC-OMIM:614402", source="MONDO:Redundant", source="OMIM:614402"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:614402", source="DOID:0111804", source="MONDO:Redundant", source="OMIM:614402"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 ! VAX1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12660 {source="MONDO:mim2gene_medgen"} ! VAX1 @@ -314772,7 +315143,7 @@ xref: OMIM:614417 {source="DOID:0060752", source="MONDO:equivalentTo"} xref: Orphanet:163717 {source="DOID:0060752"} xref: Orphanet:165805 {source="OMIM:614417"} xref: UMLS:C3280730 {source="MEDGEN:482360", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005115 {source="OMIM:614417"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DOID:0060752", source="OMIM:614417"} ! temporal lobe epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6 [Term] @@ -315002,7 +315373,7 @@ xref: MEDGEN:482424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614434 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="OMIM:614434"} xref: UMLS:C3280794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482424"} -is_a: MONDO:0019571 {source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0019571 {source="DOID:0070136", source="MONDO:Redundant", source="Orphanet:90348/btnt"} ! autosomal dominant cutis laxa is_a: MONDO:0100237 {source="MONDO:Redundant", source="OMIM:614434"} ! inherited cutis laxa intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3602 ! FBLN5 @@ -315244,6 +315615,7 @@ xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", sour xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"} xref: UMLS:C3152204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463554"} is_a: MONDO:0020573 {source="OMIM:614456"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:614456"} ! susceptibility to familial cutaneous melanoma intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7105 ! MITF intersection_of: predisposes_towards MONDO:0005012 ! cutaneous melanoma @@ -315609,7 +315981,7 @@ xref: OMIM:614483 {source="MONDO:equivalentTo"} xref: Orphanet:2940 {source="OMIM:614483"} xref: Orphanet:99810 {source="OMIM:614483"} xref: UMLS:C3280970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482600"} -is_a: MONDO:0020496 {source="OMIM:614483", source="Orphanet:99810/btnt"} ! familial porencephaly +is_a: MONDO:0020496 {source="DOID:0112314", source="OMIM:614483", source="Orphanet:99810/btnt"} ! familial porencephaly intersection_of: MONDO:0020496 ! familial porencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 ! COL4A2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2203 {source="MONDO:mim2gene_medgen"} ! COL4A2 @@ -315634,7 +316006,7 @@ xref: OMIM:614485 {source="MONDO:equivalentTo"} xref: Orphanet:3366 {source="OMIM:614485"} xref: UMLS:C3280974 {source="MEDGEN:482604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000156 {source="MONDO:Redundant", source="OMIM:614485"} ! trigonocephaly -is_a: MONDO:0018065 {source="MONDO:Redundant", source="Orphanet:3366/btnt"} ! isolated trigonocephaly +is_a: MONDO:0018065 {source="MONDO:Redundant", source="OMIM:614485", source="Orphanet:3366/btnt"} ! isolated trigonocephaly intersection_of: MONDO:0018065 ! isolated trigonocephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 ! FREM1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23399 {source="MONDO:mim2gene_medgen"} ! FREM1 @@ -315934,7 +316306,7 @@ xref: MEDGEN:482674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C153179 {source="MONDO:equivalentTo"} xref: OMIM:614499 {source="MONDO:equivalentTo"} xref: UMLS:C3281044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482674"} -is_a: MONDO:0019502 {source="DC-OMIM:614499", source="MONDO:Redundant", source="OMIM:614499"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:614499", source="DOID:0081200", source="MONDO:Redundant", source="OMIM:614499"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 ! CRADD relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2340 {source="MONDO:mim2gene_medgen"} ! CRADD @@ -315959,7 +316331,7 @@ xref: GARD:15812 {source="MONDO:GARD"} xref: MEDGEN:482675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614500 {source="MONDO:equivalentTo", source="DOID:0111022"} xref: UMLS:C3281045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482675"} -is_a: MONDO:0015993 {source="DC-OMIM:614500", source="DOID:0111022", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:614500", source="DOID:0111022", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:614500"} ! cone-rod dystrophy is_a: MONDO:0019200 {source="DC-OMIM:614500", source="OMIM:614500"} ! retinitis pigmentosa intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27232 ! CFAP418 @@ -316036,7 +316408,7 @@ xref: Orphanet:300536 {source="MONDO:equivalentTo", source="OMIM:614507"} xref: SCTID:733083006 {source="MONDO:equivalentTo"} xref: UMLS:C3281084 {source="MEDGEN:482714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:614507"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:614507", source="DOID:0080569", source="OMIM:614507"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0013789/inferred", source="MONDO:Redundant", source="OMIM:614507", source="Orphanet:300536/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:300536"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021136 ! rare @@ -316131,7 +316503,7 @@ xref: Orphanet:3318 {source="OMIM:614521"} xref: Orphanet:71493 {source="OMIM:614521", source="MONDO:directSiblingOf"} xref: UMLS:C3281125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482755"} is_a: MONDO:0002249 {source="DC-OMIM:614521"} ! thrombocytosis disease -is_a: MONDO:0019111 {source="OMIMPS:187950"} ! familial thrombocytosis +is_a: MONDO:0019111 {source="OMIM:614521", source="OMIMPS:187950"} ! familial thrombocytosis relationship: excluded_subClassOf MONDO:0005029 {source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! essential thrombocythemia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6192 {source="MONDO:mim2gene_medgen"} ! JAK2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/230" xsd:anyURI @@ -316155,7 +316527,7 @@ xref: MEDGEN:482758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614524 {source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="OMIM:614524"} xref: UMLS:C3281128 {source="MEDGEN:482758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016068 {source="DC-OMIM:614524", source="MONDO:Redundant", source="OMIM:614524"} ! fibrochondrogenesis +is_a: MONDO:0016068 {source="DC-OMIM:614524", source="DOID:0080673", source="MONDO:Redundant", source="OMIM:614524"} ! fibrochondrogenesis intersection_of: MONDO:0016068 ! fibrochondrogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 ! COL11A2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2187 {source="MONDO:mim2gene_medgen"} ! COL11A2 @@ -316542,7 +316914,7 @@ xref: MEDGEN:766144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614576 {source="Orphanet:464443", source="MONDO:equivalentTo", source="Orphanet:464443/e"} xref: Orphanet:464443 {source="MONDO:equivalentTo"} xref: UMLS:C3553230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766144"} -is_a: MONDO:0005501 {source="DC-OMIM:614576", source="OMIM:614576"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:614576", source="DOID:0070264", source="OMIM:614576"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:464443"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 ! congenital @@ -316570,7 +316942,7 @@ xref: OMIM:614582 {source="Orphanet:319509", source="MONDO:equivalentTo", source xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"} xref: SCTID:763209008 {source="MONDO:equivalentTo"} xref: UMLS:C4706315 {source="MEDGEN:1634481", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:614582", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614582", source="DOID:0111472", source="MONDO:Redundant", source="OMIM:614582"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10379 ! MRPL3 @@ -316596,7 +316968,7 @@ xref: MEDGEN:482865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614583 {source="MONDO:equivalentTo"} xref: Orphanet:2995 {source="OMIM:614583"} xref: UMLS:C3281235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482865"} -is_a: MONDO:0017579 {source="DC-OMIM:614583", source="MONDO:Redundant", source="OMIM:614583"} ! Baraitser-Winter cerebrofrontofacial syndrome +is_a: MONDO:0017579 {source="DC-OMIM:614583", source="DOID:0081113", source="MONDO:Redundant", source="OMIM:614583"} ! Baraitser-Winter cerebrofrontofacial syndrome intersection_of: MONDO:0017579 ! Baraitser-Winter cerebrofrontofacial syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 ! ACTG1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/144 {source="MONDO:mim2gene_medgen"} ! ACTG1 @@ -316717,7 +317089,7 @@ xref: MEDGEN:482919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614602 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:614602"} xref: UMLS:C3281289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482919"} -is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:614602", source="Orphanet:84064/btnt"} ! trichohepatoenteric syndrome +is_a: MONDO:0009105 {source="DOID:0111416", source="MONDO:Redundant", source="OMIM:614602", source="Orphanet:84064/btnt"} ! trichohepatoenteric syndrome intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 ! SKIC2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10898 {source="MONDO:mim2gene_medgen"} ! SKIC2 @@ -316748,7 +317120,7 @@ xref: MEDGEN:766161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614607 {source="DOID:0070044", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614607"} xref: UMLS:C3553247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766161"} -is_a: MONDO:0015452 {source="DC-OMIM:614607", source="MONDO:Redundant", source="OMIM:614607", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614607", source="DOID:0070044", source="MONDO:Redundant", source="OMIM:614607", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11110 ! ARID1A @@ -316782,7 +317154,7 @@ xref: MEDGEN:766162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614608"} xref: UMLS:C3553248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766162"} -is_a: MONDO:0015452 {source="DC-OMIM:614608", source="MONDO:Redundant", source="OMIM:614608", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614608", source="DOID:0070045", source="MONDO:Redundant", source="OMIM:614608", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11103 ! SMARCB1 @@ -316817,7 +317189,7 @@ xref: MEDGEN:766163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614609"} xref: UMLS:C3553249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766163"} -is_a: MONDO:0015452 {source="DC-OMIM:614609", source="MONDO:Redundant", source="OMIM:614609", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:614609", source="DOID:0070046", source="MONDO:Redundant", source="OMIM:614609", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11100 ! SMARCA4 @@ -317171,7 +317543,7 @@ xref: MEDGEN:766263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614650 {source="Orphanet:280406", source="MONDO:equivalentTo", source="Orphanet:280406/e"} xref: Orphanet:280406 {source="MONDO:equivalentTo", source="OMIM:614650"} xref: UMLS:C3553349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766263"} -is_a: MONDO:0018151 {source="DC-OMIM:614650", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DC-OMIM:614650", source="DOID:0070243", source="OMIM:614650", source="Orphanet:280406"} ! coenzyme Q10 deficiency is_a: MONDO:0019006 ! familial idiopathic steroid-resistant nephrotic syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20233 {source="MONDO:mim2gene_medgen"} ! COQ6 @@ -317196,7 +317568,7 @@ xref: MEDGEN:766268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614651 {source="MONDO:equivalentTo", source="Orphanet:254898", source="Orphanet:254898/e"} xref: Orphanet:254898 {source="OMIM:614651", source="MONDO:equivalentTo"} xref: UMLS:C3553354 {source="MEDGEN:766268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018151 {source="DC-OMIM:614651", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DC-OMIM:614651", source="DOID:0070239", source="OMIM:614651", source="Orphanet:254898"} ! coenzyme Q10 deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17759 {source="MONDO:mim2gene_medgen"} ! PDSS1 [Term] @@ -317217,7 +317589,7 @@ xref: MEDGEN:766272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614652 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:614652"} xref: UMLS:C3553358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766272"} -is_a: MONDO:0018151 {source="MONDO:Redundant", source="OMIM:614652"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DOID:0070240", source="MONDO:Redundant", source="OMIM:614652"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 ! PDSS2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23041 {source="MONDO:mim2gene_medgen"} ! PDSS2 @@ -317273,7 +317645,7 @@ xref: MEDGEN:766288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614654 {source="Orphanet:319678/e", source="MONDO:equivalentTo", source="Orphanet:319678"} xref: Orphanet:319678 {source="OMIM:614654", source="MONDO:equivalentTo"} xref: UMLS:C3553374 {source="MEDGEN:766288", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018151 {source="DC-OMIM:614654", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DC-OMIM:614654", source="DOID:0070242", source="OMIM:614654", source="Orphanet:319678"} ! coenzyme Q10 deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25302 {source="MONDO:mim2gene_medgen"} ! COQ9 [Term] @@ -317468,7 +317840,7 @@ xref: MEDGEN:766328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614673 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:614673"} xref: UMLS:C3553414 {source="MEDGEN:766328", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="DC-OMIM:614673", source="MONDO:Redundant", source="OMIM:614673"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:614673", source="DOID:0070282", source="MONDO:Redundant", source="OMIM:614673"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 ! CEP135 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29086 {source="MONDO:mim2gene_medgen"} ! CEP135 @@ -317524,7 +317896,7 @@ xref: OMIM:614676 {source="MONDO:equivalentTo", source="DOID:0110311"} xref: Orphanet:155 {source="OMIM:614676"} xref: UMLS:C3553442 {source="MEDGEN:766356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:614676", source="DOID:0110311", source="MONDO:Redundant", source="OMIM:614676"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:614676"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110311", source="MONDO:OMIM", source="OMIM:614676"} ! familial hypertrophic cardiomyopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -317545,7 +317917,7 @@ xref: MEDGEN:766363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="DOID:0060266", source="OMIM:614678"} xref: UMLS:C3553449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766363"} -is_a: MONDO:0016396 {source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="DOID:0060266", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 is_a: MONDO:0020135 {source="DOID:0060266", source="MONDO:Redundant", source="OMIM:614678"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17944 ! EXOSC3 @@ -317722,7 +318094,7 @@ xref: NANDO:2200801 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:614699 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:614699"} xref: UMLS:C3542922 {source="MEDGEN:762276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:614699", source="OMIM:614699"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:614699", source="DOID:0081150", source="OMIM:614699"} ! common variable immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2336 {source="MONDO:mim2gene_medgen"} ! CR2 [Term] @@ -317747,7 +318119,7 @@ xref: OMIM:614700 {source="Orphanet:445018", source="MONDO:equivalentTo", source xref: Orphanet:1572 {source="OMIM:614700"} xref: Orphanet:445018 {source="MONDO:equivalentTo"} xref: UMLS:C3553512 {source="MONDO:equivalentTo", source="MEDGEN:766426", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:614700", source="OMIM:614700"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:614700", source="DOID:0081151", source="OMIM:614700"} ! common variable immunodeficiency is_a: MONDO:0021094 {source="OMIM:614700"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0005020 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! intestinal disorder relationship: excluded_subClassOf MONDO:0005151 {source="MONDO:Redundant", source="Orphanet:445018", source="Orphanet:445018/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! endocrine system disorder @@ -317777,7 +318149,7 @@ xref: MEDGEN:766431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614701 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:614701"} xref: UMLS:C3553517 {source="MEDGEN:766431", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016033 {source="DC-OMIM:614701", source="MONDO:Redundant", source="OMIM:614701"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DC-OMIM:614701", source="DOID:0080508", source="MONDO:Redundant", source="OMIM:614701"} ! Cornelia de Lange syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect intersection_of: MONDO:0016033 ! Cornelia de Lange syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9811 ! RAD21 @@ -317809,7 +318181,7 @@ xref: MEDGEN:1664257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614702 {source="MONDO:equivalentTo", source="Orphanet:314637", source="Orphanet:314637/e"} xref: Orphanet:314637 {source="MONDO:equivalentTo", source="OMIM:614702"} xref: UMLS:C4749921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1664257"} -is_a: MONDO:0000732 {source="DC-OMIM:614702", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614702", source="DOID:0111480", source="MONDO:Redundant", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0044970 {source="Orphanet:314637", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial disease intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19261 {source="MONDO:mim2gene_medgen"} ! MTO1 @@ -317872,7 +318244,7 @@ xref: OMIM:614707 {source="MONDO:equivalentTo"} xref: Orphanet:572550 {source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="OMIM:614707"} xref: UMLS:C3553538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766452"} -is_a: MONDO:0008891 {source="Orphanet:97229/btnt"} ! riboflavin transporter deficiency +is_a: MONDO:0008891 {source="DOID:0080786", source="OMIM:614707", source="Orphanet:572550", source="Orphanet:97229/btnt"} ! riboflavin transporter deficiency intersection_of: MONDO:0008891 ! riboflavin transporter deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 ! SLC52A2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30224 {source="MONDO:mim2gene_medgen"} ! SLC52A2 @@ -317964,7 +318336,7 @@ xref: Orphanet:314667 {source="MONDO:equivalentTo", source="OMIM:614727"} xref: SCTID:732252005 {source="MONDO:equivalentTo"} xref: UMLS:C3553571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766485"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005501 {source="DC-OMIM:614727", source="OMIM:614727"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:614727", source="DOID:0070263", source="OMIM:614727"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia is_a: MONDO:0017740 {source="Orphanet:314667"} ! disorder of protein N-glycosylation @@ -318172,7 +318544,8 @@ xref: MEDGEN:766521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614741 {source="Orphanet:447784/e", source="MONDO:equivalentTo", source="Orphanet:447784"} xref: Orphanet:447784 {source="MONDO:equivalentTo"} xref: UMLS:C3553607 {source="MEDGEN:766521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004069 {source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder +is_a: MONDO:0004069 {source="DOID:0080363", source="https://github.com/monarch-initiative/mondo/issues/1573"} ! inborn mitochondrial metabolism disorder +is_a: MONDO:0006025 {source="DOID:0080363"} ! autosomal recessive disease is_a: MONDO:0016789 {source="Orphanet:447784"} ! pyruvate metabolism disorder relationship: has_characteristic HP:0000007 {source="PMID:22628558"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21606 {source="MONDO:mim2gene_medgen"} ! MPC1 @@ -318306,7 +318679,7 @@ xref: MEDGEN:766551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614749 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:614749"} xref: UMLS:C3553637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766551"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:614749", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070434", source="MONDO:Redundant", source="OMIM:614749", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 ! PIGO relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23215 {source="MONDO:mim2gene_medgen"} ! PIGO @@ -318467,7 +318840,7 @@ xref: MEDGEN:761337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614782 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:614782"} xref: UMLS:C3539195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761337"} -is_a: MONDO:0003233 {source="DC-OMIM:614782", source="MONDO:Redundant", source="OMIM:614782"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:614782", source="DOID:0111431", source="MONDO:Redundant", source="OMIM:614782"} ! essential tremor is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4010 ! FUS @@ -318525,7 +318898,7 @@ xref: OMIM:614807 {source="Orphanet:319160", source="MONDO:equivalentTo", source xref: Orphanet:319160 {source="MONDO:equivalentTo", source="OMIM:614807"} xref: SCTID:764945007 {source="MONDO:equivalentTo"} xref: UMLS:C4707232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642424"} -is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807"} ! centronuclear myopathy +is_a: MONDO:0018947 {source="DC-OMIM:614807", source="OMIM:614807", source="Orphanet:319160"} ! centronuclear myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14153 {source="MONDO:mim2gene_medgen"} ! CCDC78 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -318696,7 +319069,7 @@ xref: MEDGEN:766676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614816 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:614816"} xref: UMLS:C3553762 {source="MEDGEN:766676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018954 {source="MONDO:Redundant", source="OMIM:614816"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DOID:0070233", source="MONDO:Redundant", source="OMIM:614816"} ! Loeys-Dietz syndrome intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11768 ! TGFB2 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:614816"} ! Autosomal dominant inheritance @@ -318804,7 +319177,7 @@ xref: MEDGEN:766707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614822 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:614822"} xref: UMLS:C3553793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766707"} -is_a: MONDO:0004983 {source="DC-OMIM:614822", source="MONDO:Redundant", source="OMIM:614822"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:614822", source="DOID:0070178", source="MONDO:Redundant", source="OMIM:614822"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26348 ! SEPTIN12 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26348 ! SEPTIN12 @@ -318832,7 +319205,7 @@ xref: OMIM:614823 {source="DOID:0080334", source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="OMIM:614823"} xref: UMLS:C3542024 {source="MEDGEN:762200", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:614823"} ! aortic valve disorder -is_a: MONDO:0007194 {source="Orphanet:402075/btnt"} ! familial bicuspid aortic valve +is_a: MONDO:0007194 {source="DOID:0080334", source="OMIM:614823", source="Orphanet:402075/btnt"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 ! SMAD6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6772 {source="MONDO:mim2gene_medgen"} ! SMAD6 @@ -318847,7 +319220,7 @@ xref: MEDGEN:766715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614826 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:614826"} xref: UMLS:C3553801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766715"} -is_a: MONDO:0005712 {source="DC-OMIM:614826", source="OMIM:614826"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:614826", source="DOID:0111791", source="OMIM:614826"} ! congenital nystagmus [Term] id: MONDO:0013904 @@ -319326,7 +319699,7 @@ xref: GARD:15855 {source="MONDO:GARD"} xref: MEDGEN:766800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614852 {source="MONDO:equivalentTo"} xref: UMLS:C3553886 {source="MONDO:equivalentTo", source="MEDGEN:766800", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="DC-OMIM:614852", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:614852", source="DOID:0070292", source="MONDO:Redundant", source="OMIM:614852"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 ! CEP152 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29298 {source="MONDO:mim2gene_medgen"} ! CEP152 @@ -319378,7 +319751,7 @@ xref: OMIM:614857 {source="Orphanet:369955", source="MONDO:equivalentTo", source xref: Orphanet:26 {source="OMIM:614857"} xref: Orphanet:369955 {source="MONDO:equivalentTo", source="OMIM:614857"} xref: UMLS:C3553915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766829"} -is_a: MONDO:0016826 {source="DC-OMIM:614857", source="Orphanet:369955"} ! methylmalonic aciduria and homocystinuria +is_a: MONDO:0016826 {source="DC-OMIM:614857", source="OMIM:614857", source="Orphanet:369955"} ! methylmalonic aciduria and homocystinuria relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/68 {source="MONDO:mim2gene_medgen"} ! ABCD4 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj" xsd:anyURI {source="GARD:0012621"} @@ -319637,7 +320010,7 @@ xref: OMIM:614869 {source="MONDO:equivalentTo", source="DOID:0110836"} xref: Orphanet:231169 {source="OMIM:614869"} xref: Orphanet:886 {source="OMIM:614869"} xref: UMLS:C3553944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766858"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110836", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110836/inferred", source="MONDO:Redundant", source="OMIM:614869"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24579 ! CIB2 @@ -319931,7 +320304,7 @@ xref: OMIM:614881 {source="Orphanet:314485/e", source="MONDO:equivalentTo", sour xref: Orphanet:314485 {source="MONDO:equivalentTo", source="OMIM:614881"} xref: UMLS:C4749918 {source="MEDGEN:1667915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:614881"} ! spinal muscular atrophy -is_a: MONDO:0015363 {source="Orphanet:314485"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0111214", source="OMIM:614881", source="Orphanet:314485"} ! neuronopathy, distal hereditary motor, autosomal recessive relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5228 {source="MONDO:mim2gene_medgen"} ! DNAJB2 [Term] @@ -320069,7 +320442,7 @@ xref: OMIM:614889 {source="MONDO:equivalentTo"} xref: Orphanet:319547 {source="OMIM:614889"} xref: Orphanet:319574 {source="OMIM:614889"} xref: UMLS:C4013947 {source="MEDGEN:862384", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003778 {source="DC-OMIM:614889", source="MONDO:Redundant"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DC-OMIM:614889", source="DOID:0111995", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5440 ! IFNGR2 @@ -320358,7 +320731,7 @@ xref: MEDGEN:766956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176920 {source="MONDO:equivalentTo"} xref: OMIM:614900 {source="MONDO:equivalentTo"} xref: UMLS:C3554042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766956"} -is_a: MONDO:0015253 {source="DC-OMIM:614900", source="MONDO:Redundant", source="OMIM:614900"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:614900", source="DOID:0111892", source="MONDO:Redundant", source="OMIM:614900"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 ! RPL26 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10327 {source="MONDO:mim2gene_medgen"} ! RPL26 @@ -320476,7 +320849,7 @@ xref: OMIM:614921 {source="Orphanet:319646/e", source="MONDO:equivalentTo", sour xref: Orphanet:319646 {source="MONDO:equivalentTo", source="OMIM:614921"} xref: UMLS:C2752015 {source="MONDO:equivalentTo", source="MEDGEN:414536", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:614921"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:614921", source="DOID:0080570", source="OMIM:614921"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0013968/inferred", source="MONDO:Redundant", source="OMIM:614921", source="Orphanet:319646/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0016333 ! familial dilated cardiomyopathy is_a: MONDO:0017740 {source="Orphanet:319646"} ! disorder of protein N-glycosylation @@ -320507,7 +320880,7 @@ xref: MEDGEN:1682397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614922 {source="Orphanet:324535", source="MONDO:equivalentTo", source="Orphanet:324535/e"} xref: Orphanet:324535 {source="MONDO:equivalentTo", source="OMIM:614922"} xref: UMLS:C5190991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682397"} -is_a: MONDO:0000732 {source="DC-OMIM:614922", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614922", source="DOID:0111481", source="MONDO:Redundant", source="OMIM:614922"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21176 ! RMND1 @@ -320569,7 +320942,7 @@ xref: OMIM:614924 {source="MONDO:equivalentTo", source="Orphanet:314051", source xref: Orphanet:314051 {source="MONDO:equivalentTo", source="OMIM:614924"} xref: SCTID:763366000 {source="MONDO:equivalentTo"} xref: UMLS:C4706421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645614"} -is_a: MONDO:0000732 {source="DC-OMIM:614924", source="MONDO:Redundant", source="OMIM:614924"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614924", source="DOID:0111493", source="MONDO:Redundant", source="OMIM:614924"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency @@ -320597,7 +320970,7 @@ xref: OMIM:614926 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:614926"} xref: Orphanet:642976 {source="MONDO:equivalentTo"} xref: UMLS:C3554105 {source="MEDGEN:767019", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926"} ! Perrault syndrome +is_a: MONDO:0017312 {source="DC-OMIM:614926", source="MONDO:Redundant", source="OMIM:614926", source="Orphanet:642976"} ! Perrault syndrome intersection_of: MONDO:0017312 ! Perrault syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4817 ! HARS2 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614926"} ! Autosomal recessive inheritance @@ -320632,7 +321005,7 @@ xref: MEDGEN:767025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614928 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614928"} xref: UMLS:C3554111 {source="MEDGEN:767025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019071 {source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="DOID:0111659", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614928"} ! ectodermal dysplasia syndrome [Term] @@ -320652,7 +321025,7 @@ xref: MEDGEN:767031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614929 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614929"} xref: UMLS:C3554117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767031"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="DOID:0111660", source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614929"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 ! KRT74 @@ -320675,7 +321048,7 @@ xref: MEDGEN:767041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614931 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614931"} xref: UMLS:C3554127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767041"} -is_a: MONDO:0019071 {source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia +is_a: MONDO:0019071 {source="DOID:0111656", source="MONDO:Redundant", source="Orphanet:69084/btnt"} ! pure hair and nail ectodermal dysplasia is_a: MONDO:0019287 {source="MONDO:Redundant", source="OMIM:614931"} ! ectodermal dysplasia syndrome intersection_of: MONDO:0019071 ! pure hair and nail ectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5125 ! HOXC13 @@ -320704,7 +321077,7 @@ xref: OMIM:614932 {source="Orphanet:319514/e", source="MONDO:equivalentTo", sour xref: Orphanet:319514 {source="MONDO:equivalentTo", source="OMIM:614932"} xref: SCTID:763110007 {source="MONDO:equivalentTo"} xref: UMLS:C4706283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631854"} -is_a: MONDO:0000732 {source="DC-OMIM:614932", source="MONDO:Redundant", source="OMIM:614932"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614932", source="DOID:0111467", source="MONDO:Redundant", source="OMIM:614932"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23166 ! PNPT1 @@ -320929,7 +321302,7 @@ xref: MEDGEN:1663069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614946 {source="Orphanet:319519", source="MONDO:equivalentTo", source="Orphanet:319519/e"} xref: Orphanet:319519 {source="MONDO:equivalentTo", source="OMIM:614946"} xref: UMLS:C4755312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1663069"} -is_a: MONDO:0000732 {source="DC-OMIM:614946", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614946", source="DOID:0111477", source="MONDO:Redundant", source="OMIM:614946"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21062 ! FARS2 @@ -320959,7 +321332,7 @@ xref: OMIM:614947 {source="Orphanet:319524/e", source="MONDO:equivalentTo", sour xref: Orphanet:319524 {source="MONDO:equivalentTo", source="OMIM:614947"} xref: SCTID:763203009 {source="MONDO:equivalentTo"} xref: UMLS:C4706313 {source="MEDGEN:1646555", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:614947", source="MONDO:Redundant", source="OMIM:614947"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:614947", source="DOID:0111491", source="MONDO:Redundant", source="OMIM:614947"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 ! MTFMT @@ -321000,7 +321373,7 @@ xref: MEDGEN:767109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614959 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:614959"} xref: UMLS:C3554195 {source="MEDGEN:767109", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:614959", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:614959", source="DOID:0080439", source="MONDO:Redundant", source="OMIM:614959"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen"} ! KCNT1 @@ -321167,7 +321540,7 @@ xref: MEDGEN:767155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614972 {source="MONDO:equivalentTo"} xref: Orphanet:69665 {source="OMIM:614972"} xref: UMLS:C3554241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767155"} -is_a: MONDO:0100429 {source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy +is_a: MONDO:0100429 {source="DOID:0070229", source="https://orcid.org/0000-0001-5493-2602"} ! intrahepatic cholestasis of pregnancy relationship: excluded_subClassOf MONDO:0019072 {source="Orphanet:69665/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! intrahepatic cholestasis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/45 {source="MONDO:mim2gene_medgen"} ! ABCB4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI @@ -321314,7 +321687,7 @@ xref: OMIM:614990 {source="DOID:0110837", source="MONDO:equivalentTo"} xref: Orphanet:231169 {source="OMIM:614990"} xref: Orphanet:886 {source="OMIM:614990"} xref: UMLS:C3539124 {source="MEDGEN:761332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010168 {source="Orphanet:231169"} ! Usher syndrome type 1 +is_a: MONDO:0010168 {source="DOID:0110837", source="Orphanet:231169"} ! Usher syndrome type 1 is_a: MONDO:0019501 {source="DOID:0110837/inferred", source="MONDO:Redundant", source="OMIM:614990"} ! Usher syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:614990"} ! Autosomal recessive inheritance @@ -321365,7 +321738,7 @@ xref: OMIM:615006 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:615006"} xref: UMLS:C3554316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767230"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:615006", source="OMIM:615006"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615006", source="DOID:0080414", source="OMIM:615006"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -321457,6 +321830,7 @@ xref: Orphanet:329224 {source="MONDO:equivalentTo", source="OMIM:615009"} xref: UMLS:C3554343 {source="MEDGEN:767257", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:329224", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:329224"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:615009"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070047", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -321659,7 +322033,7 @@ xref: MEDGEN:767281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615028 {source="Orphanet:412189/e", source="MONDO:equivalentTo", source="Orphanet:412189"} xref: Orphanet:412189 {source="OMIM:615028", source="MONDO:equivalentTo"} xref: UMLS:C3554367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767281"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:615028", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 ! EXPH5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30578 {source="MONDO:mim2gene_medgen"} ! EXPH5 @@ -321864,7 +322238,7 @@ xref: OMIM:615040 {source="Orphanet:391389/e", source="MONDO:equivalentTo", sour xref: Orphanet:391384 {source="OMIM:615040"} xref: Orphanet:391389 {source="MONDO:equivalentTo", source="OMIM:615040"} xref: UMLS:C3808667 {source="MEDGEN:814997", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018319 {source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome +is_a: MONDO:0018319 {source="DOID:0111729", source="OMIM:615040", source="Orphanet:391389"} ! familial episodic pain syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/497 {source="MONDO:mim2gene_medgen"} ! TRPA1 [Term] @@ -321921,7 +322295,7 @@ xref: OMIM:615042 {source="Orphanet:329178/e", source="MONDO:equivalentTo", sour xref: Orphanet:329178 {source="MONDO:equivalentTo", source="OMIM:615042"} xref: UMLS:C5190603 {source="MEDGEN:1682844", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005066 ! metabolic disease -is_a: MONDO:0005500 {source="DC-OMIM:615042"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:615042", source="DOID:0080571", source="OMIM:615042"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0014023/inferred", source="MONDO:Redundant", source="OMIM:615042", source="Orphanet:329178/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:329178"} ! disorder of multiple glycosylation is_a: MONDO:0018276 {source="Orphanet:329178"} ! muscular dystrophy-dystroglycanopathy @@ -322056,7 +322430,7 @@ xref: MEDGEN:767329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615065 {source="Orphanet:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"} xref: Orphanet:329457 {source="MONDO:equivalentTo", source="OMIM:615065"} xref: UMLS:C3554415 {source="MEDGEN:767329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019942 {source="DC-OMIM:615065", source="MONDO:Redundant", source="Orphanet:329457"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:615065", source="DOID:0111594", source="MONDO:Redundant", source="OMIM:615065", source="Orphanet:329457"} ! distal arthrogryposis intersection_of: MONDO:0019942 ! distal arthrogryposis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 ! ECEL1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3147 {source="MONDO:mim2gene_medgen"} ! ECEL1 @@ -322229,6 +322603,7 @@ xref: Orphanet:363686 {source="MONDO:equivalentTo", source="OMIM:615074"} xref: UMLS:C3554448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767362"} is_a: MONDO:0000508 {source="Orphanet:363686", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:363686"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:615074"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070048", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare @@ -322312,7 +322687,7 @@ xref: GARD:15904 {source="MONDO:GARD"} xref: MEDGEN:767367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615081 {source="MONDO:equivalentTo"} xref: UMLS:C3554453 {source="MEDGEN:767367", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:615081", source="MONDO:Redundant", source="OMIM:615081"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:615081", source="DOID:0070180", source="MONDO:Redundant", source="OMIM:615081"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18829 ! KLHL10 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18829 ! KLHL10 @@ -322367,7 +322742,7 @@ xref: MEDGEN:767376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615084 {source="MONDO:equivalentTo", source="Orphanet:352447", source="DOID:0080129", source="Orphanet:352447/e"} xref: Orphanet:352447 {source="MONDO:equivalentTo", source="OMIM:615084"} xref: UMLS:C3554462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767376"} -is_a: MONDO:0018158 {source="DC-OMIM:615084", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:615084", source="DOID:0080129", source="MONDO:Redundant", source="OMIM:615084"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 ! MGME1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16205 {source="MONDO:mim2gene_medgen"} ! MGME1 @@ -322395,7 +322770,7 @@ xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:615085"} xref: UMLS:C3554478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767392"} is_a: MONDO:0017198 {source="DOID:0110940", source="MONDO:Redundant", source="NCIT:C150556/inferred", source="OMIM:615085", source="PMID:31633310"} ! osteopetrosis -is_a: MONDO:0019026 {source="MONDO:Redundant", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis +is_a: MONDO:0019026 {source="MONDO:Redundant", source="OMIM:615085", source="Orphanet:667/btnt"} ! autosomal recessive osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive osteopetrosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14974 ! SNX10 relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -322468,7 +322843,7 @@ xref: Orphanet:329228 {source="MONDO:equivalentTo", source="OMIM:615095"} xref: SCTID:724141003 {source="MONDO:equivalentTo"} xref: UMLS:C3554499 {source="MEDGEN:767413", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002081 {source="https://orcid.org/0000-0001-9310-0163"} ! musculoskeletal system disorder -is_a: MONDO:0016660 {source="DC-OMIM:615095", source="OMIM:615095"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:615095", source="DOID:0070294", source="OMIM:615095"} ! autosomal recessive primary microcephaly is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15807 {source="MONDO:mim2gene_medgen"} ! ZNF335 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -322531,7 +322906,7 @@ xref: MEDGEN:767431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615107 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615107"} xref: UMLS:C3554517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767431"} -is_a: MONDO:0016063 {source="DC-OMIM:615107", source="MONDO:Redundant", source="OMIM:615107"} ! Cowden disease +is_a: MONDO:0016063 {source="DC-OMIM:615107", source="DOID:0081000", source="MONDO:Redundant", source="OMIM:615107"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 ! KLLN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37212 {source="MONDO:mim2gene_medgen"} ! KLLN @@ -322553,7 +322928,7 @@ xref: MEDGEN:767432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615108 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615108"} xref: UMLS:C3554518 {source="MEDGEN:767432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016063 {source="DC-OMIM:615108", source="MONDO:Redundant", source="OMIM:615108"} ! Cowden disease +is_a: MONDO:0016063 {source="DC-OMIM:615108", source="DOID:0081001", source="MONDO:Redundant", source="OMIM:615108"} ! Cowden disease is_a: MONDO:1040002 {source="PMID:23592320", source="PMID:25557259", source="https://clinicalgenome.org/affiliation/50020/"} ! PIK3CA-related overgrowth spectrum intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8975 ! PIK3CA @@ -322577,7 +322952,7 @@ xref: MEDGEN:767433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615109 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615109"} xref: UMLS:C3554519 {source="MEDGEN:767433", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016063 {source="DC-OMIM:615109", source="MONDO:Redundant", source="OMIM:615109"} ! Cowden disease +is_a: MONDO:0016063 {source="DC-OMIM:615109", source="DOID:0081002", source="MONDO:Redundant", source="OMIM:615109"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/391 ! AKT1 relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615109"} ! Autosomal dominant inheritance @@ -322624,7 +322999,7 @@ xref: MEDGEN:767438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615113 {source="MONDO:equivalentTo", source="DOID:0060841"} xref: Orphanet:2542 {source="OMIM:615113", source="DOID:0060841"} xref: UMLS:C3554524 {source="MONDO:equivalentTo", source="MEDGEN:767438", source="MONDO:MEDGEN"} -is_a: MONDO:0000062 {source="DC-OMIM:615113", source="MONDO:Redundant", source="OMIM:615113"} ! isolated microphthalmia +is_a: MONDO:0000062 {source="DC-OMIM:615113", source="DOID:0060841", source="MONDO:Redundant", source="OMIM:615113"} ! isolated microphthalmia is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microphthalmia syndrome intersection_of: MONDO:0000062 ! isolated microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/409 ! ALDH1A3 @@ -322649,7 +323024,7 @@ xref: MEDGEN:767448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615119 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:615119"} xref: UMLS:C3554534 {source="MEDGEN:767448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015487 {source="DC-OMIM:615119", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy +is_a: MONDO:0015487 {source="DC-OMIM:615119", source="DOID:0080358", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 ! COX15 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2263 {source="MONDO:mim2gene_medgen"} ! COX15 @@ -322740,7 +323115,7 @@ xref: MEDGEN:767474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615127 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:615127"} xref: UMLS:C3554560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767474"} -is_a: MONDO:0000160 {source="DC-OMIM:615127", source="OMIM:615127"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DC-OMIM:615127", source="DOID:0111693", source="OMIM:615127"} ! epilepsy, familial adult myoclonic relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -322760,6 +323135,7 @@ xref: OMIM:615134 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:615134"} xref: UMLS:C3554574 {source="MEDGEN:767488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020573 {source="OMIM:615134"} ! inherited disease susceptibility +is_a: MONDO:0024462 {source="OMIM:615134"} ! susceptibility to familial cutaneous melanoma is_a: MONDO:0100242 {source="OMIM:615134"} ! glioma susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11730 ! TERT @@ -322928,7 +323304,7 @@ xref: Orphanet:1460 {source="OMIM:615157"} xref: UMLS:C3554605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767519"} is_a: MONDO:0000066 {source="DC-OMIM:615157", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0060351", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615157", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 ! TTC19 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26006 {source="MONDO:mim2gene_medgen"} ! TTC19 @@ -322952,7 +323328,7 @@ xref: Orphanet:1460 {source="OMIM:615158"} xref: UMLS:C3554606 {source="MEDGEN:767520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:615158", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080112", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615158", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 ! UQCRB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12582 {source="MONDO:mim2gene_medgen"} ! UQCRB @@ -322976,7 +323352,7 @@ xref: Orphanet:1460 {source="OMIM:615159"} xref: UMLS:C3554607 {source="MEDGEN:767521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:615159", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080113", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615159", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 ! UQCRQ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29594 {source="MONDO:mim2gene_medgen"} ! UQCRQ @@ -323000,7 +323376,7 @@ xref: Orphanet:1460 {source="OMIM:615160"} xref: UMLS:C3554608 {source="MEDGEN:767522", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000066 {source="DC-OMIM:615160", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080114", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615160", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 ! UQCRC2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12586 {source="MONDO:mim2gene_medgen"} ! UQCRC2 @@ -323045,7 +323421,7 @@ xref: GARD:15914 {source="MONDO:GARD"} xref: MEDGEN:767524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615163 {source="MONDO:equivalentTo", source="DOID:0111023"} xref: UMLS:C3554610 {source="MEDGEN:767524", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:615163", source="DOID:0111023", source="OMIM:615163"} ! cone-rod dystrophy [Term] id: MONDO:0014069 @@ -323153,7 +323529,7 @@ xref: OMIM:615182 {source="MONDO:equivalentTo", source="Orphanet:356978", source xref: Orphanet:356978 {source="MONDO:equivalentTo", source="OMIM:615182"} xref: SCTID:713401006 {source="MONDO:equivalentTo"} xref: UMLS:C5574940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1802316"} -is_a: MONDO:0016001 {source="Orphanet:356978"} ! 2-hydroxyglutaric aciduria +is_a: MONDO:0016001 {source="DOID:0111619", source="Orphanet:356978"} ! 2-hydroxyglutaric aciduria relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10979 {source="MONDO:mim2gene_medgen"} ! SLC25A1 [Term] @@ -323257,6 +323633,7 @@ xref: OMIM:615190 {source="DOID:0070022", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="OMIM:615190"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:615190"} xref: UMLS:C3554656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767570"} +is_a: MONDO:0006025 {source="DOID:0070022"} ! autosomal recessive disease is_a: MONDO:0015780 {source="DOID:0070022", source="MONDO:Redundant", source="OMIM:615190"} ! dyskeratosis congenita is_a: MONDO:0800467 {source="PMID:20301779", source="https://clinicalgenome.org/affiliation/40060/"} ! dyskeratosis congenita and related telomere biology disorder intersection_of: MONDO:0015780 ! dyskeratosis congenita @@ -323317,7 +323694,7 @@ xref: NANDO:2200665 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"} xref: Orphanet:140957 {source="OMIM:615193"} xref: UMLS:C3554663 {source="MEDGEN:767577", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="MONDO:Redundant", source="OMIM:615193"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DOID:0111053", source="MONDO:Redundant", source="OMIM:615193"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0015372 {source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/163 ! ACTN1 @@ -323455,7 +323832,7 @@ xref: GARD:13112 {source="MONDO:GARD"} xref: MEDGEN:767604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615217 {source="MONDO:equivalentTo", source="DOID:0060557"} xref: UMLS:C3554690 {source="MEDGEN:767604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="DOID:0050950", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0050950", source="DOID:0060557", source="https://github.com/monarch-initiative/mondo/issues/48"} ! autosomal recessive cerebellar ataxia relationship: excluded_subClassOf MONDO:0018996 {source="Orphanet:64753/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30035 {source="MONDO:mim2gene_medgen"} ! PIK3R5 @@ -323476,7 +323853,7 @@ xref: MEDGEN:767605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615219 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="OMIM:615219"} xref: UMLS:C3554691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767605"} -is_a: MONDO:0016349 {source="MONDO:Redundant", source="Orphanet:2185/btnt"} ! congenital hydrocephalus +is_a: MONDO:0016349 {source="MONDO:Redundant", source="OMIM:615219", source="Orphanet:2185/btnt"} ! congenital hydrocephalus intersection_of: MONDO:0016349 ! congenital hydrocephalus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 ! MPDZ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7208 {source="MONDO:mim2gene_medgen"} ! MPDZ @@ -323531,7 +323908,7 @@ xref: MEDGEN:811489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615222 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="OMIM:615222"} xref: UMLS:C3714896 {source="MEDGEN:811489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015799 {source="DC-OMIM:615222", source="MONDO:Redundant", source="OMIM:615222"} ! Smith-McCort dysplasia +is_a: MONDO:0015799 {source="DC-OMIM:615222", source="DOID:0081271", source="MONDO:Redundant", source="OMIM:615222"} ! Smith-McCort dysplasia is_a: MONDO:0016761 {source="PMID:31633310"} ! spondyloepiphyseal dysplasia intersection_of: MONDO:0015799 ! Smith-McCort dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16075 ! RAB33B @@ -323801,7 +324178,7 @@ xref: MEDGEN:815270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615238 {source="Orphanet:435651/e", source="MONDO:equivalentTo", source="Orphanet:435651"} xref: Orphanet:435651 {source="MONDO:equivalentTo"} xref: UMLS:C3808940 {source="MEDGEN:815270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020088 {source="DC-OMIM:615238", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy +is_a: MONDO:0020088 {source="DC-OMIM:615238", source="DOID:0070203", source="OMIM:615238", source="Orphanet:435651"} ! familial partial lipodystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24229 {source="MONDO:mim2gene_medgen"} ! CIDEC [Term] @@ -323855,6 +324232,9 @@ xref: UMLS:C3714995 {source="MEDGEN:811544", source="MONDO:equivalentTo", source is_a: MONDO:0005021 {source="DC-OMIM:615248", source="DOID:0110445", source="MONDO:Entailed", source="MONDO:Redundant"} ! dilated cardiomyopathy is_a: MONDO:0005045 {source="DC-OMIM:615248"} ! hypertrophic cardiomyopathy is_a: MONDO:0005201 {source="DC-OMIM:615248"} ! restrictive cardiomyopathy +is_a: MONDO:0016333 {source="OMIM:615248"} ! familial dilated cardiomyopathy +is_a: MONDO:0016340 {source="OMIM:615248"} ! familial restrictive cardiomyopathy +is_a: MONDO:0024573 {source="OMIM:615248"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005021 ! dilated cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 ! MYPN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23246 {source="MONDO:mim2gene_medgen"} ! MYPN @@ -324144,7 +324524,7 @@ xref: MEDGEN:815335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615278 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615278"} xref: UMLS:C3809005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815335"} -is_a: MONDO:0015280 {source="DC-OMIM:615278", source="MONDO:Redundant", source="OMIM:615278"} ! cardiofaciocutaneous syndrome +is_a: MONDO:0015280 {source="DC-OMIM:615278", source="DOID:0111461", source="MONDO:Redundant", source="OMIM:615278"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 ! KRAS relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6407 {source="MONDO:mim2gene_medgen"} ! KRAS @@ -324167,7 +324547,7 @@ xref: MEDGEN:815336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615279 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615279"} xref: UMLS:C3809006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815336"} -is_a: MONDO:0015280 {source="DC-OMIM:615279", source="MONDO:Redundant", source="OMIM:615279"} ! cardiofaciocutaneous syndrome +is_a: MONDO:0015280 {source="DC-OMIM:615279", source="DOID:0111462", source="MONDO:Redundant", source="OMIM:615279"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 ! MAP2K1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6840 {source="MONDO:mim2gene_medgen"} ! MAP2K1 @@ -324190,7 +324570,7 @@ xref: MEDGEN:815337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615280 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615280"} xref: UMLS:C3809007 {source="MEDGEN:815337", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015280 {source="DC-OMIM:615280", source="MONDO:Redundant", source="OMIM:615280"} ! cardiofaciocutaneous syndrome +is_a: MONDO:0015280 {source="DC-OMIM:615280", source="DOID:0111463", source="MONDO:Redundant", source="OMIM:615280"} ! cardiofaciocutaneous syndrome intersection_of: MONDO:0015280 ! cardiofaciocutaneous syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 ! MAP2K2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6842 {source="MONDO:mim2gene_medgen"} ! MAP2K2 @@ -324375,7 +324755,7 @@ xref: Orphanet:363447 {source="OMIM:615290"} xref: Orphanet:363454 {source="MONDO:equivalentTo", source="OMIM:615290"} xref: UMLS:C4747715 {source="MEDGEN:1669929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001516 {source="DC-OMIM:615290"} ! spinal muscular atrophy -is_a: MONDO:0018190 {source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy +is_a: MONDO:0018190 {source="DOID:0070349", source="OMIM:615290", source="Orphanet:363454"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17208 {source="MONDO:mim2gene_medgen"} ! BICD2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -324471,7 +324851,7 @@ xref: MEDGEN:815434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615298 {source="MONDO:equivalentTo"} xref: Orphanet:3250 {source="OMIM:615298"} xref: UMLS:C3809104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815434"} -is_a: MONDO:0008511 {source="MONDO:Redundant", source="OMIM:615298", source="Orphanet:3250/btnt"} ! proximal symphalangism +is_a: MONDO:0008511 {source="DOID:0080788", source="MONDO:Redundant", source="OMIM:615298", source="Orphanet:3250/btnt"} ! proximal symphalangism intersection_of: MONDO:0008511 ! proximal symphalangism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 ! GDF5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4220 {source="MONDO:mim2gene_medgen"} ! GDF5 @@ -324632,7 +325012,7 @@ xref: OMIM:615330 {source="MONDO:equivalentTo", source="DOID:0080135", source="O xref: Orphanet:289573 {source="OMIM:615330"} xref: Orphanet:363424 {source="MONDO:equivalentTo", source="OMIM:615330"} xref: UMLS:C3809165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815495"} -is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0080135", source="MONDO:Redundant", source="OMIM:615330", source="Orphanet:363424"} ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 ! IBA57 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27302 {source="MONDO:mim2gene_medgen"} ! IBA57 @@ -324740,7 +325120,7 @@ xref: MEDGEN:815529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615346 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="OMIM:615346"} xref: UMLS:C3809199 {source="MEDGEN:815529", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019165 {source="MONDO:Redundant", source="Orphanet:759/btnt"} ! central precocious puberty +is_a: MONDO:0019165 {source="DOID:0112309", source="MONDO:Redundant", source="OMIM:615346", source="Orphanet:759/btnt"} ! central precocious puberty intersection_of: MONDO:0019165 ! central precocious puberty intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 ! MKRN3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7114 {source="MONDO:mim2gene_medgen"} ! MKRN3 @@ -324846,7 +325226,7 @@ xref: OMIM:615351 {source="MONDO:equivalentTo"} xref: Orphanet:370959 {source="MONDO:relatedTo", source="OMIM:615351"} xref: Orphanet:370968 {source="MONDO:relatedTo", source="OMIM:615351"} xref: UMLS:C3809221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815551"} -is_a: MONDO:0000172 {source="DC-OMIM:615351", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DC-OMIM:615351", source="DOID:0112377", source="OMIM:615351"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0700084 {source="https://clinicalgenome.org/affiliation/50061/"} ! myopathy caused by variation in GMPPB relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22932 {source="MONDO:mim2gene_medgen"} ! GMPPB @@ -325166,7 +325546,7 @@ xref: MEDGEN:815629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615374 {source="MONDO:equivalentTo", source="DOID:0111024"} xref: Orphanet:1872 {source="OMIM:615374"} xref: UMLS:C3809299 {source="MONDO:equivalentTo", source="MEDGEN:815629", source="MONDO:MEDGEN"} -is_a: MONDO:0015993 {source="DC-OMIM:615374", source="DOID:0111024", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:615374", source="DOID:0111024", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615374"} ! cone-rod dystrophy is_a: MONDO:0100448 {source="https://clinicalgenome.org/affiliation/40072/"} ! RAB28-related retinopathy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9768 ! RAB28 @@ -325337,7 +325717,7 @@ xref: OMIM:615386 {source="MONDO:equivalentTo", source="DOID:0080058", source="O xref: Orphanet:352403 {source="MONDO:equivalentTo", source="OMIM:615386"} xref: SCTID:763351003 {source="MONDO:equivalentTo"} xref: UMLS:C4706415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636182"} -is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080058", source="MONDO:Redundant", source="OMIM:615386", source="Orphanet:352403"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 ! SPTBN2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11276 {source="MONDO:mim2gene_medgen"} ! SPTBN2 @@ -325407,7 +325787,7 @@ xref: MEDGEN:815669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="Orphanet:352563/e"} xref: Orphanet:352563 {source="MONDO:equivalentTo", source="OMIM:615395"} xref: UMLS:C3809339 {source="MEDGEN:815669", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:615395", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615395", source="DOID:0111469", source="MONDO:Redundant", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16650 {source="MONDO:mim2gene_medgen"} ! MRPL44 @@ -325495,7 +325875,7 @@ xref: UMLS:C3809356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MESH:C566367/inferred"} ! hereditary disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0017748 {source="Orphanet:369837"} ! inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -is_a: MONDO:0100247 {source="MONDO:Redundant", source="Orphanet:369837"} ! multiple congenital anomalies-hypotonia-seizures syndrome +is_a: MONDO:0100247 {source="DOID:0080140", source="MONDO:Redundant", source="OMIM:615398", source="Orphanet:369837"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14938 ! PIGT relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:369837", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -325552,7 +325932,7 @@ xref: MEDGEN:815704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615400 {source="MONDO:equivalentTo"} xref: Orphanet:86814 {source="OMIM:615400"} xref: UMLS:C3809374 {source="MEDGEN:815704", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000160 {source="DC-OMIM:615400", source="MONDO:Redundant", source="OMIM:615400"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DC-OMIM:615400", source="DOID:0111691", source="MONDO:Redundant", source="OMIM:615400"} ! epilepsy, familial adult myoclonic intersection_of: MONDO:0000160 ! epilepsy, familial adult myoclonic intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2172 ! CNTN2 relationship: excluded_subClassOf MONDO:0019448 {source="Orphanet:86814/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! benign adult familial myoclonic epilepsy @@ -325668,7 +326048,7 @@ xref: OMIM:615413 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615413"} xref: Orphanet:399808 {source="OMIM:615413"} xref: UMLS:C3809427 {source="MEDGEN:815757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:615413", source="MONDO:Redundant", source="OMIM:615413"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:615413", source="DOID:0070171", source="MONDO:Redundant", source="OMIM:615413"} ! spermatogenic failure is_a: MONDO:0018394 {source="Orphanet:399808/btnt"} ! male infertility with teratozoospermia due to single gene mutation intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23044 ! NANOS1 @@ -325691,7 +326071,7 @@ xref: DOID:0070287 {source="MONDO:equivalentTo"} xref: MEDGEN:815761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615414 {source="MONDO:equivalentTo"} xref: UMLS:C3809431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815761"} -is_a: MONDO:0016660 {source="DC-OMIM:615414", source="MONDO:Redundant", source="OMIM:615414"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:615414", source="DOID:0070287", source="MONDO:Redundant", source="OMIM:615414"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 ! PHC1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3182 {source="MONDO:mim2gene_medgen"} ! PHC1 @@ -325743,7 +326123,7 @@ xref: OMIM:615418 {source="DOID:0080130", source="MONDO:equivalentTo", source="D xref: Orphanet:1369 {source="OMIM:615418"} xref: UMLS:C3809443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815773"} is_a: MONDO:0004069 {source="DOID:0080335"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0018158 {source="DC-OMIM:615418", source="MONDO:Redundant", source="OMIM:615418"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:615418", source="DOID:0080335", source="MONDO:Redundant", source="OMIM:615418"} ! mitochondrial DNA depletion syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -325807,7 +326187,7 @@ xref: MEDGEN:815798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615422 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615422"} xref: UMLS:C3809468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815798"} -is_a: MONDO:0000507 {source="MONDO:Redundant", source="OMIM:615422", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia +is_a: MONDO:0000507 {source="DOID:0111384", source="MONDO:Redundant", source="OMIM:615422", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 ! HNRNPA2B1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5033 {source="MONDO:mim2gene_medgen"} ! HNRNPA2B1 @@ -325831,7 +326211,7 @@ xref: MEDGEN:815799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615424 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615424"} xref: UMLS:C3809469 {source="MEDGEN:815799", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000507 {source="MONDO:Redundant", source="OMIM:615424", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia +is_a: MONDO:0000507 {source="DOID:0111386", source="MONDO:Redundant", source="OMIM:615424", source="Orphanet:52430", source="https://orcid.org/0000-0002-6601-2165"} ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: MONDO:0000507 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 ! HNRNPA1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5031 {source="MONDO:mim2gene_medgen"} ! HNRNPA1 @@ -325860,7 +326240,7 @@ xref: MEDGEN:815800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615425 {source="MONDO:equivalentTo", source="Orphanet:412181", source="Orphanet:412181/e"} xref: Orphanet:412181 {source="OMIM:615425", source="MONDO:equivalentTo"} xref: UMLS:C3809470 {source="MEDGEN:815800", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:615425", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1090 {source="MONDO:mim2gene_medgen"} ! DST property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4499" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -325996,7 +326376,7 @@ xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"} xref: MEDGEN:1658130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615434 {source="DOID:0110419", source="MONDO:equivalentTo"} xref: UMLS:C4747737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1658130"} -is_a: MONDO:0019200 {source="DC-OMIM:615434", source="DOID:0110419", source="MONDO:Entailed", source="MONDO:Redundant"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DC-OMIM:615434", source="DOID:0110419", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615434"} ! retinitis pigmentosa intersection_of: MONDO:0019200 ! retinitis pigmentosa intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 ! ARL2BP relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17146 {source="MONDO:mim2gene_medgen"} ! ARL2BP @@ -326076,7 +326456,7 @@ xref: MEDGEN:815856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615440 {source="MONDO:equivalentTo", source="Orphanet:369913", source="Orphanet:369913/e"} xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"} xref: UMLS:C3809526 {source="MEDGEN:815856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:615440", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615440", source="DOID:0111496", source="MONDO:Redundant", source="OMIM:615440"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14198 ! ELAC2 @@ -326184,7 +326564,7 @@ xref: Orphanet:1460 {source="OMIM:615453"} xref: UMLS:C3809553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815883"} is_a: MONDO:0000066 {source="DC-OMIM:615453", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080115", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615453", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 ! CYC1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2579 {source="MONDO:mim2gene_medgen"} ! CYC1 @@ -326271,7 +326651,7 @@ xref: MEDGEN:815913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615468 {source="MONDO:equivalentTo", source="Orphanet:397964", source="Orphanet:397964/e"} xref: Orphanet:397964 {source="OMIM:615468", source="MONDO:equivalentTo"} xref: UMLS:C3809583 {source="MEDGEN:815913", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency +is_a: MONDO:0015131 {source="DOID:0111988", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:615468"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:397964", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6819 {source="MONDO:mim2gene_medgen"} ! MALT1 @@ -326333,7 +326713,7 @@ xref: GARD:13378 {source="MONDO:GARD"} xref: MEDGEN:815936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615473 {source="MONDO:equivalentTo"} xref: UMLS:C3809606 {source="MEDGEN:815936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:615473", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615473", source="DOID:0080450", source="MONDO:Redundant", source="OMIM:615473"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 ! GNAO1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4389 {source="MONDO:mim2gene_medgen"} ! GNAO1 @@ -326390,7 +326770,7 @@ xref: Orphanet:369894 {source="OMIM:615476", source="MONDO:equivalentObsolete"} xref: UMLS:C3809624 {source="MEDGEN:815954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:369894"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0020071 {source="Orphanet:369894"} ! infantile epilepsy syndrome -is_a: MONDO:0100062 {source="DC-OMIM:615476", source="OMIM:615476"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615476", source="DOID:0080413", source="OMIM:615476"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29040 {source="MONDO:mim2gene_medgen"} ! SZT2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -326598,7 +326978,7 @@ xref: MEDGEN:815995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615491 {source="MONDO:equivalentTo", source="Orphanet:352654", source="Orphanet:352654/e"} xref: Orphanet:352654 {source="MONDO:equivalentTo", source="OMIM:615491"} xref: UMLS:C3809665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815995"} -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615491"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0112344", source="MONDO:Redundant", source="OMIM:615491"} ! hereditary spastic paraplegia is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:352654"} ! inherited neurodegenerative disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12513 {source="MONDO:mim2gene_medgen"} ! UCHL1 @@ -326717,6 +327097,7 @@ xref: Orphanet:363611 {source="OMIM:615502", source="MONDO:equivalentTo"} xref: UMLS:C3809686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816016"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:363611", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:363611"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:615502"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070051", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -326874,6 +327255,7 @@ xref: OMIM:615510 {source="MONDO:equivalentTo"} xref: Orphanet:869 {source="OMIM:615510"} xref: UMLS:C4706563 {source="MEDGEN:1640947", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0006025 {source="DOID:0112321"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:615510"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/22923 {source="MONDO:mim2gene_medgen"} ! GMPPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI @@ -327158,7 +327540,7 @@ xref: MEDGEN:816133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615524 {source="MONDO:equivalentTo"} xref: Orphanet:2470 {source="OMIM:615524"} xref: UMLS:C3809803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816133"} -is_a: MONDO:0016073 {source="MONDO:Redundant", source="OMIM:615524"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DOID:0111800", source="MONDO:Redundant", source="OMIM:615524"} ! syndromic microphthalmia intersection_of: MONDO:0016073 ! syndromic microphthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 ! RARB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9865 {source="MONDO:mim2gene_medgen"} ! RARB @@ -327426,7 +327808,7 @@ xref: OMIM:615544 {source="MONDO:equivalentTo"} xref: Orphanet:2149 {source="OMIM:615544"} xref: Orphanet:98892 {source="OMIM:615544"} xref: UMLS:C3809872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816202"} -is_a: MONDO:0020341 {source="DC-OMIM:615544", source="MONDO:Redundant"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:615544", source="MONDO:Redundant", source="OMIM:615544"} ! periventricular nodular heterotopia intersection_of: MONDO:0020341 ! periventricular nodular heterotopia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 ! ERMARD relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21056 {source="MONDO:mim2gene_medgen"} ! ERMARD @@ -327478,7 +327860,7 @@ xref: MEDGEN:816205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615546 {source="MONDO:equivalentTo"} xref: Orphanet:314679 {source="OMIM:615546"} xref: UMLS:C3809875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816205"} -is_a: MONDO:0017813 {source="DC-OMIM:615546", source="MONDO:Redundant", source="OMIM:615546"} ! van Maldergem syndrome +is_a: MONDO:0017813 {source="DC-OMIM:615546", source="DOID:0080586", source="MONDO:Redundant", source="OMIM:615546"} ! van Maldergem syndrome intersection_of: MONDO:0017813 ! van Maldergem syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4 @@ -327577,7 +327959,7 @@ xref: MEDGEN:816218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615550 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:615550"} xref: UMLS:C3809888 {source="MEDGEN:816218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:615550", source="MONDO:Redundant", source="OMIM:615550"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:615550", source="DOID:0111882", source="MONDO:Redundant", source="OMIM:615550"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 ! RPL15 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10306 {source="MONDO:mim2gene_medgen"} ! RPL15 @@ -327600,7 +327982,7 @@ xref: MEDGEN:816223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615551 {source="MONDO:equivalentTo"} xref: Orphanet:306577 {source="OMIM:615551"} xref: UMLS:C3809893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816223"} -is_a: MONDO:0018319 {source="DC-OMIM:615551", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome +is_a: MONDO:0018319 {source="DC-OMIM:615551", source="DOID:0111730", source="MONDO:Redundant", source="OMIM:615551"} ! familial episodic pain syndrome intersection_of: MONDO:0018319 ! familial episodic pain syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 ! SCN10A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10582 {source="MONDO:mim2gene_medgen"} ! SCN10A @@ -327627,7 +328009,7 @@ xref: Orphanet:391384 {source="OMIM:615552"} xref: Orphanet:391392 {source="MONDO:equivalentTo", source="OMIM:615552"} xref: UMLS:C3809899 {source="MEDGEN:816229", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C125390"} ! syndromic disease -is_a: MONDO:0018319 {source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome +is_a: MONDO:0018319 {source="DOID:0111731", source="OMIM:615552", source="Orphanet:391392"} ! familial episodic pain syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10583 {source="MONDO:mim2gene_medgen"} ! SCN11A [Term] @@ -327945,7 +328327,7 @@ xref: OMIM:615577 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:615577"} xref: Orphanet:293978 {source="OMIM:615577"} xref: UMLS:C3809991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816321"} -is_a: MONDO:0015517 {source="DC-OMIM:615577", source="MONDO:Redundant", source="OMIM:615577"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:615577", source="DOID:0081152", source="MONDO:Redundant", source="OMIM:615577"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 ! NFKB2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7795 {source="MONDO:mim2gene_medgen"} ! NFKB2 @@ -327972,7 +328354,7 @@ xref: MEDGEN:816331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615578 {source="Orphanet:391348/e", source="MONDO:equivalentTo", source="Orphanet:391348"} xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"} xref: UMLS:C3810001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816331"} -is_a: MONDO:0000732 {source="DC-OMIM:615578", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615578", source="DOID:0111484", source="MONDO:Redundant", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16088 {source="MONDO:mim2gene_medgen"} ! SFXN4 @@ -327998,7 +328380,7 @@ xref: OMIM:615582 {source="EFO:1000012", source="MONDO:equivalentTo"} xref: UMLS:C3810012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816342"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder -is_a: MONDO:0018954 {source="EFO:1000012", source="OMIM:615582"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DOID:0070236", source="EFO:1000012", source="OMIM:615582"} ! Loeys-Dietz syndrome relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615582"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11769 {source="MONDO:mim2gene_medgen"} ! TGFB3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -328045,7 +328427,7 @@ xref: OMIM:615589 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:615589"} xref: UMLS:C3888339 {source="MEDGEN:854867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005349 {source="DC-OMIM:615589", source="OMIM:615589"} ! otosclerosis +is_a: MONDO:0005349 {source="DC-OMIM:615589", source="DOID:0060927", source="OMIM:615589"} ! otosclerosis [Term] id: MONDO:0014265 @@ -328150,7 +328532,7 @@ xref: OMIM:615593 {source="MONDO:equivalentTo", source="Orphanet:431149", source xref: Orphanet:431149 {source="MONDO:equivalentTo", source="OMIM:615593"} xref: SCTID:766879006 {source="MONDO:equivalentTo"} xref: UMLS:C3810053 {source="MONDO:equivalentTo", source="MEDGEN:816383", source="MONDO:MEDGEN"} -is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency +is_a: MONDO:0015131 {source="DOID:0111935", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:615593"} ! immunodeficiency disease relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:431149", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency @@ -328174,7 +328556,7 @@ xref: MEDGEN:816385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615595 {source="MONDO:equivalentTo"} xref: Orphanet:397593 {source="MONDO:equivalentTo", source="OMIM:615595"} xref: UMLS:C3810055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816385"} -is_a: MONDO:0000732 {source="DC-OMIM:615595", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615595", source="DOID:0111476", source="MONDO:Redundant", source="OMIM:615595"} ! combined oxidative phosphorylation deficiency intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 ! LYRM4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21365 {source="MONDO:mim2gene_medgen"} ! LYRM4 @@ -328207,7 +328589,7 @@ xref: OMIM:615596 {source="Orphanet:370921/e", source="MONDO:equivalentTo", sour xref: Orphanet:370921 {source="MONDO:equivalentTo", source="OMIM:615596"} xref: SCTID:733111000 {source="MONDO:equivalentTo"} xref: UMLS:C5561935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794145"} -is_a: MONDO:0005500 {source="DC-OMIM:615596"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:615596", source="DOID:0080572", source="OMIM:615596"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:0014270/inferred", source="MONDO:Redundant", source="OMIM:615596", source="Orphanet:370921/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370921"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -328243,7 +328625,7 @@ xref: OMIM:615597 {source="Orphanet:370924", source="MONDO:equivalentTo", source xref: Orphanet:370924 {source="OMIM:615597", source="MONDO:equivalentTo"} xref: SCTID:733112007 {source="MONDO:equivalentTo"} xref: UMLS:C2931007 {source="MEDGEN:419309", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005500 {source="DC-OMIM:615597"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:615597", source="DOID:0080573", source="OMIM:615597"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MESH:C535751", source="MONDO:0014271/inferred", source="MONDO:Redundant", source="OMIM:615597", source="Orphanet:370924/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:370924"} ! disorder of protein N-glycosylation relationship: has_characteristic MONDO:0021140 ! congenital @@ -328405,7 +328787,7 @@ xref: DOID:0060932 {source="MONDO:equivalentTo"} xref: MEDGEN:811575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615612 {source="MONDO:equivalentTo"} xref: UMLS:C3715079 {source="MEDGEN:811575", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000158 {source="DC-OMIM:615612", source="OMIM:615612"} ! developmental dysplasia of the hip +is_a: MONDO:0000158 {source="DC-OMIM:615612", source="DOID:0060932", source="OMIM:615612"} ! developmental dysplasia of the hip is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -328431,7 +328813,7 @@ xref: OMIM:615615 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="OMIM:615615"} xref: UMLS:C3810127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816457"} is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta -is_a: MONDO:0031520 {source="DOID:0060017"} ! familial severe combined immunodeficiency +is_a: MONDO:0031520 {source="DOID:0060017", source="OMIM:615615"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1674 {source="MONDO:mim2gene_medgen"} ! CD3E @@ -328467,7 +328849,7 @@ xref: OMIM:615617 {source="MONDO:equivalentTo"} xref: Orphanet:169160 {source="OMIM:615617"} xref: UMLS:C3810147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816477"} is_a: MONDO:0015703 {source="Orphanet:169160/btnt", source="https://orcid.org/0000-0002-6601-2165"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta -is_a: MONDO:0031520 {source="DOID:0060016", source="MONDO:Redundant", source="MONDO:indirect"} ! familial severe combined immunodeficiency +is_a: MONDO:0031520 {source="DOID:0060016", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:615617"} ! familial severe combined immunodeficiency is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1673 ! CD3D @@ -328591,7 +328973,7 @@ xref: OMIM:615631 {source="MONDO:equivalentTo"} xref: Orphanet:98869 {source="OMIM:615631"} xref: UMLS:C3810185 {source="MEDGEN:816515", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019403 {source="MONDO:Redundant", source="OMIM:615631"} ! congenital dyserythropoietic anemia -is_a: MONDO:0020337 {source="Orphanet:98869/btnt"} ! congenital dyserythropoietic anemia type 1 +is_a: MONDO:0020337 {source="DOID:0111397", source="Orphanet:98869/btnt"} ! congenital dyserythropoietic anemia type 1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26929 {source="MONDO:mim2gene_medgen"} ! CDIN1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -328958,7 +329340,7 @@ xref: MEDGEN:816613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615670 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:615670"} xref: UMLS:C3810283 {source="MEDGEN:816613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008075 {source="OMIM:615670", source="Orphanet:93921/btnt"} ! schwannomatosis +is_a: MONDO:0008075 {source="DOID:0070481", source="OMIM:615670", source="Orphanet:93921/btnt"} ! schwannomatosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:615670"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6742 {source="MONDO:mim2gene_medgen"} ! LZTR1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -328982,7 +329364,7 @@ xref: MEDGEN:816615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615673 {source="MONDO:equivalentTo", source="Orphanet:401768", source="Orphanet:401768/e"} xref: Orphanet:401768 {source="MONDO:equivalentTo", source="OMIM:615673"} xref: UMLS:C3810285 {source="MEDGEN:816615", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005336 {source="https://orcid.org/0000-0001-5208-3432"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0111335", source="https://orcid.org/0000-0001-5208-3432"} ! myopathy is_a: MONDO:0005395 ! movement disorder relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease relationship: has_characteristic MONDO:0021136 ! rare @@ -329205,7 +329587,7 @@ xref: MEDGEN:816650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615697 {source="MONDO:equivalentTo", source="DOID:0060749"} xref: Orphanet:163717 {source="OMIM:615697", source="DOID:0060749"} xref: UMLS:C3810320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816650"} -is_a: MONDO:0005115 {source="OMIM:615697"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DOID:0060749", source="OMIM:615697"} ! temporal lobe epilepsy [Term] id: MONDO:0014309 @@ -329328,7 +329710,7 @@ xref: MEDGEN:816672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615707 {source="Orphanet:437552/e", source="MONDO:equivalentTo", source="Orphanet:437552"} xref: Orphanet:437552 {source="MONDO:equivalentTo"} xref: UMLS:C3810342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816672"} -is_a: MONDO:0003778 {source="PMID:23006327"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DOID:0111941", source="PMID:23006327"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3619 {source="MONDO:mim2gene_medgen"} ! FCGR3A @@ -329435,7 +329817,7 @@ xref: MEDGEN:816684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615716 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:615716"} xref: UMLS:C3810354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816684"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:615716", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070436", source="MONDO:Redundant", source="OMIM:615716", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 ! PGAP3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23719 {source="MONDO:mim2gene_medgen"} ! PGAP3 @@ -329676,7 +330058,7 @@ xref: NCIT:C142802 {source="MONDO:equivalentTo"} xref: OMIM:615744 {source="MONDO:equivalentTo"} xref: Orphanet:33069 {source="OMIM:615744"} xref: UMLS:C3810400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816730"} -is_a: MONDO:0100062 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080431", source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4075 ! GABRA1 relationship: excluded_subClassOf MONDO:0100135 {source="Orphanet:33069/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! Dravet syndrome @@ -329922,7 +330304,7 @@ xref: OMIM:615767 {source="MONDO:equivalentTo", source="Orphanet:477661"} xref: Orphanet:238569 {source="OMIM:615767"} xref: Orphanet:477661 {source="MONDO:equivalentTo"} xref: UMLS:C5567788 {source="MEDGEN:1799211", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="DC-OMIM:615767", source="OMIM:615767"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:615767", source="DOID:0081153", source="OMIM:615767"} ! common variable immunodeficiency relationship: excluded_subClassOf MONDO:0016542 {source="Orphanet:238569/btnt", source="https://orcid.org/0000-0001-5208-3432"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:477661", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6005 {source="MONDO:mim2gene_medgen"} ! IL21 @@ -329953,7 +330335,7 @@ xref: MEDGEN:1674542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615768 {source="Orphanet:412057/e", source="MONDO:equivalentTo", source="DOID:0080029", source="Orphanet:412057"} xref: Orphanet:412057 {source="MONDO:equivalentTo", source="OMIM:615768"} xref: UMLS:C5190574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674542"} -is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080029", source="MONDO:Redundant", source="OMIM:615768", source="Orphanet:412057"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 ! STUB1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11427 {source="MONDO:mim2gene_medgen"} ! STUB1 @@ -330115,7 +330497,7 @@ xref: MEDGEN:862758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615785 {source="MONDO:equivalentTo"} xref: Orphanet:171723 {source="OMIM:615785"} xref: UMLS:C4014321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862758"} -is_a: MONDO:0015748 {source="DC-OMIM:615785", source="OMIM:615785"} ! hereditary mucosal leukokeratosis +is_a: MONDO:0015748 {source="DC-OMIM:615785", source="DOID:0081288", source="OMIM:615785"} ! hereditary mucosal leukokeratosis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6415 {source="MONDO:mim2gene_medgen"} ! KRT13 [Term] @@ -330320,7 +330702,7 @@ xref: GARD:22565 {source="MONDO:GARD"} xref: MEDGEN:862823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615817 {source="MONDO:equivalentTo"} xref: UMLS:C4014386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862823"} -is_a: MONDO:0019502 {source="DC-OMIM:615817", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:615817", source="DOID:0081207", source="MONDO:Redundant", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 ! WASHC4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29174 {source="MONDO:mim2gene_medgen"} ! WASHC4 @@ -330363,7 +330745,7 @@ xref: Orphanet:1460 {source="OMIM:615824"} xref: UMLS:C4014408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862845"} is_a: MONDO:0000066 {source="DC-OMIM:615824", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080116", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615824", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 ! UQCC2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21237 {source="MONDO:mim2gene_medgen"} ! UQCC2 @@ -330509,6 +330891,7 @@ xref: Orphanet:352490 {source="MONDO:equivalentTo", source="OMIM:615834"} xref: UMLS:C4014435 {source="MEDGEN:862872", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:352490", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:352490"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:615834"} ! intellectual disability, autosomal dominant relationship: disease_has_feature HP:0000717 {source="https://github.com/monarch-initiative/mondo/issues/1766"} ! Autism relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070056", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -330580,7 +330963,7 @@ xref: Orphanet:1460 {source="OMIM:615838"} xref: UMLS:C4014440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862877"} is_a: MONDO:0000066 {source="DC-OMIM:615838", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080117", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:615838", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 ! LYRM7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28072 {source="MONDO:mim2gene_medgen"} ! LYRM7 @@ -330603,7 +330986,7 @@ xref: MEDGEN:862886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615841 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615841"} xref: UMLS:C4014449 {source="MEDGEN:862886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:615841", source="MONDO:Redundant", source="OMIM:615841"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:615841", source="DOID:0070182", source="MONDO:Redundant", source="OMIM:615841"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11538 ! TAF4B intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11538 ! TAF4B @@ -330628,7 +331011,7 @@ xref: MEDGEN:862891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615842 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615842"} xref: UMLS:C4014454 {source="MEDGEN:862891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:615842", source="MONDO:Redundant", source="OMIM:615842"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:615842", source="DOID:0070179", source="MONDO:Redundant", source="OMIM:615842"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20997 ! ZMYND15 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20997 ! ZMYND15 @@ -330769,7 +331152,7 @@ xref: Orphanet:411986 {source="MONDO:equivalentTo", source="OMIM:615859"} xref: UMLS:C4014492 {source="MEDGEN:862929", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:411986"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:411986"} ! monogenic epilepsy -is_a: MONDO:0100062 {source="DC-OMIM:615859", source="OMIM:615859"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:615859", source="DOID:0080415", source="OMIM:615859"} ! developmental and epileptic encephalopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:411986", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -330795,7 +331178,7 @@ xref: GARD:16022 {source="MONDO:GARD"} xref: MEDGEN:862938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615860 {source="MONDO:equivalentTo", source="DOID:0111025"} xref: UMLS:C4014501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862938"} -is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:615860", source="DOID:0111025", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615860"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 ! TTLL5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19963 {source="MONDO:mim2gene_medgen"} ! TTLL5 @@ -330910,7 +331293,7 @@ xref: MEDGEN:862965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615866 {source="DOID:0070057", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:615866"} xref: UMLS:C4014528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862965"} -is_a: MONDO:0015452 {source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0070057", source="OMIM:615866", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070057", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11191 {source="MONDO:mim2gene_medgen"} ! SOX11 @@ -331033,7 +331416,7 @@ xref: MEDGEN:862977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615877 {source="Orphanet:424099/e", source="MONDO:equivalentTo", source="Orphanet:424099"} xref: Orphanet:424099 {source="MONDO:equivalentTo"} xref: UMLS:C4014540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:862977"} -is_a: MONDO:0016073 {source="DC-OMIM:615877", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia +is_a: MONDO:0016073 {source="DC-OMIM:615877", source="DOID:0111802", source="OMIM:615877", source="Orphanet:424099"} ! syndromic microphthalmia is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6758 {source="MONDO:mim2gene_medgen"} ! MAB21L2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI @@ -331065,7 +331448,7 @@ xref: Orphanet:172 {source="OMIM:615878"} xref: Orphanet:480483 {source="MONDO:equivalentTo", source="DOID:0070224"} xref: Orphanet:79304 {source="OMIM:615878", source="MONDO:directSiblingOf"} xref: UMLS:C2931067 {source="MEDGEN:418976", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:615878", source="Orphanet:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="DOID:0070224", source="MONDO:Redundant", source="OMIM:615878", source="Orphanet:172/btnt", source="Orphanet:480483"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 ! TJP2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11828 {source="MONDO:mim2gene_medgen"} ! TJP2 @@ -331206,7 +331589,7 @@ xref: MEDGEN:863021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615888 {source="Orphanet:420566", source="MONDO:equivalentTo", source="DOID:0111051", source="Orphanet:420566/e"} xref: Orphanet:420566 {source="OMIM:615888", source="MONDO:equivalentTo", source="DOID:0111051"} xref: UMLS:C4014584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863021"} -is_a: MONDO:0000009 {source="DC-OMIM:615888", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:615888", source="DOID:0111051", source="MONDO:0017142-obsoleted", source="MONDO:Redundant", source="OMIM:615888"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0021181 {source="MONDO:0017142-obsoleted"} ! inherited blood coagulation disorder intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9879 ! RASGRP2 @@ -331253,7 +331636,7 @@ xref: MEDGEN:863033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615892 {source="Orphanet:401942", source="MONDO:equivalentTo", source="Orphanet:401942/e"} xref: Orphanet:401942 {source="MONDO:equivalentTo", source="OMIM:615892"} xref: UMLS:C4014596 {source="MEDGEN:863033", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="DC-OMIM:615892"} ! orofacial cleft +is_a: MONDO:0000358 {source="DC-OMIM:615892", source="DOID:0080407", source="OMIM:615892"} ! orofacial cleft is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI @@ -331391,7 +331774,7 @@ xref: MEDGEN:1651756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615907 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="OMIM:615907"} xref: UMLS:C4747769 {source="MEDGEN:1651756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019313 {source="MONDO:Redundant", source="OMIM:615907", source="Orphanet:79452/btnt"} ! lymphatic malformation +is_a: MONDO:0019313 {source="DOID:0070209", source="MONDO:Redundant", source="OMIM:615907", source="Orphanet:79452/btnt"} ! lymphatic malformation relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12682 {source="MONDO:mim2gene_medgen"} ! VEGFC [Term] @@ -331415,7 +331798,7 @@ xref: MEDGEN:863078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615909 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:615909"} xref: UMLS:C4014641 {source="MEDGEN:863078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015253 {source="DC-OMIM:615909", source="MONDO:Redundant", source="OMIM:615909"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DC-OMIM:615909", source="DOID:0111889", source="MONDO:Redundant", source="OMIM:615909"} ! Diamond-Blackfan anemia intersection_of: MONDO:0015253 ! Diamond-Blackfan anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 ! RPS29 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10419 {source="MONDO:mim2gene_medgen"} ! RPS29 @@ -331486,7 +331869,7 @@ xref: MEDGEN:863097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615917 {source="Orphanet:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"} xref: Orphanet:420728 {source="MONDO:equivalentTo", source="OMIM:615917"} xref: UMLS:C4014660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863097"} -is_a: MONDO:0000732 {source="DC-OMIM:615917", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615917", source="DOID:0111478", source="MONDO:Redundant", source="OMIM:615917"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21642 ! VARS2 @@ -331514,7 +331897,7 @@ xref: OMIM:615918 {source="MONDO:equivalentTo", source="Orphanet:420733", source xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"} xref: SCTID:763211004 {source="MONDO:equivalentTo"} xref: UMLS:C4706316 {source="MEDGEN:1638633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:615918", source="MONDO:Redundant", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:615918", source="DOID:0111465", source="MONDO:Redundant", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30740 ! TARS2 @@ -331786,7 +332169,7 @@ xref: GARD:22566 {source="MONDO:GARD"} xref: MEDGEN:863182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615942 {source="MONDO:equivalentTo"} xref: UMLS:C4014745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863182"} -is_a: MONDO:0019502 {source="DC-OMIM:615942", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:615942", source="DOID:0081208", source="MONDO:Redundant", source="OMIM:615942"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 ! METTL23 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26988 {source="MONDO:mim2gene_medgen"} ! METTL23 @@ -331848,7 +332231,8 @@ xref: Orphanet:411 {source="OMIM:615947"} xref: Orphanet:535458 {source="MONDO:equivalentTo"} xref: UMLS:C4014767 {source="MONDO:equivalentTo", source="MEDGEN:863204", source="MONDO:MEDGEN"} is_a: MONDO:0001336 {source="DC-OMIM:615947", source="MONDO:indirect"} ! familial hyperlipidemia -is_a: MONDO:0018637 {source="Orphanet:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome +is_a: MONDO:0006025 {source="DOID:0111420"} ! autosomal recessive disease +is_a: MONDO:0018637 {source="DOID:0111420", source="Orphanet:444490/btnt", source="Orphanet:535458"} ! familial chylomicronemia syndrome intersection_of: MONDO:0001336 ! familial hyperlipidemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24945 ! GPIHBP1 relationship: has_characteristic HP:0000007 {source="Orphanet:535458"} ! Autosomal recessive inheritance @@ -331883,7 +332267,7 @@ xref: Orphanet:434179 {source="MONDO:equivalentTo", source="OMIM:615948"} xref: SCTID:763837007 {source="MONDO:equivalentTo"} xref: UMLS:C4706604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1635470"} is_a: MONDO:0015159 {source="Orphanet:434179"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0015375 {source="DC-OMIM:615948", source="MONDO:Redundant", source="Orphanet:434179"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:615948", source="DOID:0060958", source="MONDO:Redundant", source="OMIM:615948", source="Orphanet:434179"} ! orofaciodigital syndrome is_a: MONDO:0021147 ! disorder of development or morphogenesis intersection_of: MONDO:0015375 ! orofaciodigital syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24564 ! C2CD3 @@ -331952,7 +332336,7 @@ xref: MEDGEN:863240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615954 {source="MONDO:equivalentTo"} xref: Orphanet:189427 {source="OMIM:615954"} xref: UMLS:C4014803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863240"} -is_a: MONDO:0009049 {source="MONDO:Redundant", source="Orphanet:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia +is_a: MONDO:0009049 {source="DOID:0111624", source="MONDO:Redundant", source="Orphanet:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 ! ARMC5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25781 {source="MONDO:mim2gene_medgen"} ! ARMC5 @@ -332002,7 +332386,7 @@ xref: MEDGEN:863251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615959 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="OMIM:615959"} xref: UMLS:C4014814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863251"} -is_a: MONDO:0015705 {source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy +is_a: MONDO:0015705 {source="DOID:0111222", source="MONDO:Redundant", source="Orphanet:169186/btnt"} ! autosomal recessive centronuclear myopathy is_a: MONDO:0018947 {source="MONDO:Redundant", source="OMIM:615959"} ! centronuclear myopathy intersection_of: MONDO:0015705 ! autosomal recessive centronuclear myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16901 ! SPEG @@ -332197,7 +332581,7 @@ xref: MEDGEN:863285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615972 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:615972"} xref: UMLS:C4014848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863285"} -is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant"} ! nanophthalmia +is_a: MONDO:0005514 {source="DC-OMIM:615972", source="MONDO:Redundant", source="OMIM:615972"} ! nanophthalmia is_a: MONDO:0021129 {source="MONDO:Redundant", source="OMIM:615972", source="Orphanet:35612/btnt"} ! microphthalmia intersection_of: MONDO:0005514 ! nanophthalmia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24529 ! TMEM98 @@ -332220,7 +332604,7 @@ xref: GARD:16036 {source="MONDO:GARD"} xref: MEDGEN:863293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615973 {source="MONDO:equivalentTo", source="DOID:0111026"} xref: UMLS:C4014856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863293"} -is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DC-OMIM:615973", source="DOID:0111026", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:615973"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 ! POC1B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30836 {source="MONDO:mim2gene_medgen"} ! POC1B @@ -332305,7 +332689,7 @@ xref: GARD:22567 {source="MONDO:GARD"} xref: MEDGEN:863301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615979 {source="MONDO:equivalentTo"} xref: UMLS:C4014864 {source="MEDGEN:863301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:615979", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:615979", source="DOID:0081209", source="MONDO:Redundant", source="OMIM:615979"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 ! FBXO31 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16510 {source="MONDO:mim2gene_medgen"} ! FBXO31 @@ -332333,7 +332717,7 @@ xref: OMIM:615980 {source="Orphanet:435660/e", source="MONDO:equivalentTo", sour xref: Orphanet:435660 {source="MONDO:equivalentTo"} xref: UMLS:C4014869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863306"} is_a: MONDO:0000816 {source="DC-OMIM:615980"} ! abdominal obesity-metabolic syndrome -is_a: MONDO:0020088 {source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy +is_a: MONDO:0020088 {source="DOID:0070206", source="OMIM:615980", source="Orphanet:435660"} ! familial partial lipodystrophy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6621 {source="MONDO:mim2gene_medgen"} ! LIPE property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy" xsd:anyURI {source="GARD:0013126"} @@ -332920,7 +333304,7 @@ xref: MEDGEN:863376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616006 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:616006"} xref: UMLS:C4014939 {source="MEDGEN:863376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant"} ! Hennekam syndrome +is_a: MONDO:0016256 {source="DC-OMIM:616006", source="MONDO:Redundant", source="OMIM:616006"} ! Hennekam syndrome intersection_of: MONDO:0016256 ! Hennekam syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 ! FAT4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23109 {source="MONDO:mim2gene_medgen"} ! FAT4 @@ -332969,6 +333353,7 @@ xref: OMIM:616022 {source="Orphanet:423384/e", source="MONDO:equivalentTo", sour xref: Orphanet:423384 {source="MONDO:equivalentTo", source="OMIM:616022"} xref: UMLS:C4014954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863391"} is_a: MONDO:0018542 {source="DC-OMIM:616022", source="OMIM:616022", source="Orphanet:423384", source="Orphanet:423384/inferred"} ! severe congenital neutropenia +is_a: MONDO:0028226 {source="Orphanet:423384"} ! autosomal recessive severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26926 ! JAGN1 @@ -332999,7 +333384,7 @@ xref: MEDGEN:863395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616025 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:616025"} xref: UMLS:C4014958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863395"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616025", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070432", source="MONDO:Redundant", source="OMIM:616025", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23213 ! PIGW relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process @@ -333217,7 +333602,7 @@ xref: OMIM:616038 {source="DOID:0080075", source="MONDO:equivalentTo"} xref: Orphanet:2671 {source="OMIM:616038"} xref: Orphanet:583602 {source="MONDO:equivalentTo"} xref: UMLS:C4015019 {source="MEDGEN:863456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000179 {source="MONDO:DC", source="MONDO:Redundant", source="OMIM:616038"} ! Neu-Laxova syndrome +is_a: MONDO:0000179 {source="MONDO:DC", source="MONDO:Redundant", source="OMIM:616038", source="Orphanet:583602"} ! Neu-Laxova syndrome intersection_of: MONDO:0000179 ! Neu-Laxova syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 ! PSAT1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19129 {source="MONDO:mim2gene_medgen"} ! PSAT1 @@ -333413,7 +333798,7 @@ xref: MEDGEN:863517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616051 {source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:616051"} xref: UMLS:C4015080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863517"} -is_a: MONDO:0016660 {source="DC-OMIM:616051", source="MONDO:Redundant", source="OMIM:616051"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:616051", source="DOID:0070283", source="MONDO:Redundant", source="OMIM:616051"} ! autosomal recessive primary microcephaly is_a: MONDO:0019342 ! Seckel syndrome is_a: MONDO:0800063 {source="PMID:31633310"} ! primordial dwarfism and slender bone disorder intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly @@ -333500,7 +333885,7 @@ xref: MEDGEN:863545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616055 {source="Orphanet:401953", source="MONDO:equivalentTo", source="DOID:0050996", source="Orphanet:401953/e"} xref: Orphanet:401953 {source="MONDO:equivalentTo", source="OMIM:616055"} xref: UMLS:C4015108 {source="MONDO:equivalentTo", source="MEDGEN:863545", source="MONDO:MEDGEN"} -is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050996", source="OMIM:616055", source="Orphanet:401953"} ! hereditary episodic ataxia [Term] id: MONDO:0014477 @@ -333588,7 +333973,7 @@ xref: MEDGEN:863566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616067 {source="MONDO:equivalentTo"} xref: Orphanet:251510 {source="OMIM:616067"} xref: UMLS:C4015129 {source="MEDGEN:863566", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010765 {source="DC-OMIM:616067", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DC-OMIM:616067", source="DOID:0111770", source="OMIM:616067"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16700 {source="MONDO:mim2gene_medgen"} ! ZFPM2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -333689,7 +334074,7 @@ xref: GARD:16057 {source="MONDO:GARD"} xref: MEDGEN:863593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616080 {source="MONDO:equivalentTo"} xref: UMLS:C4015156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863593"} -is_a: MONDO:0016660 {source="DC-OMIM:616080", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:616080", source="DOID:0070284", source="MONDO:Redundant", source="OMIM:616080"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 ! CDK6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1777 {source="MONDO:mim2gene_medgen"} ! CDK6 @@ -333712,7 +334097,7 @@ xref: MEDGEN:863597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616081 {source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="OMIM:616081"} xref: UMLS:C4015160 {source="MEDGEN:863597", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016396 {source="MONDO:Redundant", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 +is_a: MONDO:0016396 {source="DOID:0112334", source="MONDO:Redundant", source="Orphanet:2254/btnt"} ! pontocerebellar hypoplasia type 1 intersection_of: MONDO:0016396 ! pontocerebellar hypoplasia type 1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 ! EXOSC8 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17035 {source="MONDO:mim2gene_medgen"} ! EXOSC8 @@ -334006,7 +334391,7 @@ xref: Orphanet:1460 {source="OMIM:616111"} xref: UMLS:C4015253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863690"} is_a: MONDO:0000066 {source="DC-OMIM:616111", source="MONDO:indirect"} ! mitochondrial complex deficiency is_a: MONDO:0015448 {source="DOID:0080118", source="MONDO:Redundant", source="Orphanet:1460/btnt"} ! mitochondrial complex III deficiency -is_a: MONDO:0020811 {source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type +is_a: MONDO:0020811 {source="OMIM:616111", source="https://orcid.org/0000-0002-6601-2165"} ! mitochondrial complex III deficiency, nuclear type intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 ! UQCC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/34399 {source="MONDO:mim2gene_medgen"} ! UQCC3 @@ -334087,7 +334472,7 @@ xref: GARD:22568 {source="MONDO:GARD"} xref: MEDGEN:863720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616116 {source="MONDO:equivalentTo"} xref: UMLS:C4015283 {source="MEDGEN:863720", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:616116", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:616116", source="DOID:0081210", source="MONDO:Redundant", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 ! NDST1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7680 {source="MONDO:mim2gene_medgen"} ! NDST1 @@ -334235,7 +334620,7 @@ xref: OMIM:616139 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:616139"} xref: UMLS:C4015316 {source="MEDGEN:863753", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:616139", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616139", source="DOID:0080444", source="MONDO:Redundant", source="OMIM:616139"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 ! GRIN2B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4586 {source="MONDO:mim2gene_medgen"} ! GRIN2B @@ -334553,6 +334938,7 @@ xref: OMIM:616171 {source="MONDO:equivalentTo", source="DOID:0080106"} xref: Orphanet:808 {source="OMIM:616171"} xref: UMLS:C4015388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863825"} is_a: MONDO:0000181 {source="DC-OMIM:616171", source="MONDO:Redundant", source="OMIM:616171"} ! microcephaly and chorioretinopathy +is_a: MONDO:0006025 {source="DOID:0080106"} ! autosomal recessive disease intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11397 ! PLK4 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616171"} ! Autosomal recessive inheritance @@ -334581,7 +334967,7 @@ xref: MEDGEN:863832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616172 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:616172"} xref: UMLS:C4015395 {source="MEDGEN:863832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018214 {source="DC-OMIM:616172", source="MONDO:Redundant", source="OMIM:616172"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DC-OMIM:616172", source="DOID:0111301", source="MONDO:Redundant", source="OMIM:616172"} ! generalized epilepsy with febrile seizures plus intersection_of: MONDO:0018214 ! generalized epilepsy with febrile seizures plus intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 ! STX1B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18539 {source="MONDO:mim2gene_medgen"} ! STX1B @@ -334608,7 +334994,7 @@ xref: MEDGEN:863842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616176 {source="Orphanet:438207", source="MONDO:equivalentTo", source="Orphanet:438207/e", source="DOID:0111048"} xref: Orphanet:438207 {source="MONDO:equivalentTo", source="DOID:0111048"} xref: UMLS:C4015405 {source="MONDO:equivalentTo", source="MEDGEN:863842", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="DC-OMIM:616176", source="MONDO:Redundant", source="OMIM:616176"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:616176", source="DOID:0111048", source="MONDO:Redundant", source="OMIM:616176"} ! inherited bleeding disorder, platelet-type relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9382 {source="MONDO:mim2gene_medgen"} ! PRKACG [Term] @@ -334675,7 +335061,7 @@ xref: OMIM:616187 {source="Orphanet:435438", source="MONDO:equivalentTo", source xref: Orphanet:435438 {source="MONDO:equivalentTo"} xref: UMLS:C4015420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863857"} is_a: MONDO:0005395 {source="MONDO:0017652-obsoleted"} ! movement disorder -is_a: MONDO:0020074 {source="DC-OMIM:616187", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:616187", source="DOID:0111447", source="MONDO:Redundant", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonus epilepsy is_a: MONDO:0100036 {source="MONDO:0017655-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! variable age onset epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6233 ! KCNC1 @@ -334738,7 +335124,7 @@ xref: GARD:22569 {source="MONDO:GARD"} xref: MEDGEN:863881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616193 {source="MONDO:equivalentTo"} xref: UMLS:C4015444 {source="MEDGEN:863881", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:616193", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:616193", source="DOID:0081211", source="MONDO:Redundant", source="OMIM:616193"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 ! FMN2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14074 {source="MONDO:mim2gene_medgen"} ! FMN2 @@ -334764,7 +335150,7 @@ xref: MEDGEN:1799166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616198 {source="Orphanet:444013", source="MONDO:equivalentTo", source="Orphanet:444013/e"} xref: Orphanet:444013 {source="MONDO:equivalentTo"} xref: UMLS:C5567743 {source="MEDGEN:1799166", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:616198", source="MONDO:Redundant", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616198", source="DOID:0111500", source="MONDO:Redundant", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14880 ! GTPBP3 @@ -334965,6 +335351,7 @@ xref: MEDGEN:863950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616209 {source="MONDO:equivalentTo", source="Orphanet:457050", source="Orphanet:457050/e"} xref: Orphanet:457050 {source="MONDO:equivalentTo"} xref: UMLS:C4015513 {source="MEDGEN:863950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0009637 {source="DOID:0081357", source="Orphanet:457050"} ! inborn mitochondrial myopathy is_a: MONDO:0016387 {source="Orphanet:457050"} ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0020123 {source="Orphanet:457050"} ! metabolic myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15559 {source="MONDO:mim2gene_medgen"} ! CHCHD10 @@ -335016,7 +335403,7 @@ xref: DOID:0112236 {source="MONDO:equivalentTo"} xref: MEDGEN:863962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616212 {source="MONDO:equivalentTo"} xref: UMLS:C4015525 {source="MEDGEN:863962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015204 {source="MONDO:Redundant", source="Orphanet:1083/btnt"} ! microlissencephaly +is_a: MONDO:0015204 {source="DOID:0112236", source="MONDO:Redundant", source="Orphanet:1083/btnt"} ! microlissencephaly is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:616212"} ! lissencephaly spectrum disorders intersection_of: MONDO:0015204 ! microlissencephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6217 ! KATNB1 @@ -335058,7 +335445,7 @@ xref: MEDGEN:863974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616216 {source="MONDO:equivalentTo"} xref: UMLS:C4015537 {source="MONDO:equivalentTo", source="MEDGEN:863974", source="MONDO:MEDGEN"} is_a: MONDO:0011071 {source="Orphanet:71290", source="https://orcid.org/0000-0001-5493-2602"} ! hereditary thrombocytopenia and hematologic cancer predisposition syndrome -is_a: MONDO:0100241 {source="DC-OMIM:616216", source="MONDO:Redundant", source="MONDO:indirect"} ! inherited thrombocytopenia +is_a: MONDO:0100241 {source="DC-OMIM:616216", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:616216"} ! inherited thrombocytopenia intersection_of: MONDO:0100241 ! inherited thrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 ! ETV6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3495 {source="MONDO:mim2gene_medgen"} ! ETV6 @@ -335105,7 +335492,7 @@ xref: MEDGEN:863989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616219 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:616219"} xref: UMLS:C4015552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:863989"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:616219"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081020", source="MONDO:Redundant", source="OMIM:616219"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18603 ! COL25A1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -335186,7 +335573,7 @@ xref: NCIT:C120409 {source="MONDO:equivalentTo"} xref: OMIM:616222 {source="Orphanet:254516/e", source="MONDO:equivalentTo", source="Orphanet:254516"} xref: Orphanet:254516 {source="MONDO:equivalentTo", source="OMIM:616222"} xref: UMLS:C4015558 {source="MEDGEN:863995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C120409"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111713", source="MONDO:Redundant", source="NCIT:C120409"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:254516", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015983"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -335312,7 +335699,7 @@ xref: OMIM:616230 {source="Orphanet:424027", source="MONDO:equivalentTo", source xref: Orphanet:424027 {source="MONDO:equivalentTo", source="OMIM:616230"} xref: UMLS:C5190825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680582"} is_a: MONDO:0018117 ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis -is_a: MONDO:0020074 {source="DC-OMIM:616230", source="MONDO:Redundant", source="OMIM:616230", source="Orphanet:424027"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:616230", source="DOID:0111451", source="MONDO:Redundant", source="OMIM:616230", source="Orphanet:424027"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 ! CERS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14253 {source="MONDO:mim2gene_medgen"} ! CERS1 @@ -335361,7 +335748,7 @@ xref: MEDGEN:864080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616239 {source="Orphanet:444458", source="MONDO:equivalentTo", source="Orphanet:444458/e"} xref: Orphanet:444458 {source="MONDO:equivalentTo"} xref: UMLS:C4015643 {source="MEDGEN:864080", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:616239", source="MONDO:Redundant", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616239", source="DOID:0111485", source="MONDO:Redundant", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26274 ! NARS2 @@ -335737,7 +336124,7 @@ xref: MEDGEN:1799985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616276 {source="Orphanet:457185/e", source="MONDO:equivalentTo", source="Orphanet:457185"} xref: Orphanet:457185 {source="MONDO:equivalentTo"} xref: UMLS:C5568562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799985"} -is_a: MONDO:0018151 {source="DC-OMIM:616276", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DC-OMIM:616276", source="DOID:0070244", source="OMIM:616276", source="Orphanet:457185"} ! coenzyme Q10 deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19693 {source="MONDO:mim2gene_medgen"} ! COQ4 [Term] @@ -336007,7 +336394,7 @@ xref: MEDGEN:898996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616291 {source="DOID:0080065", source="MONDO:equivalentTo", source="Orphanet:448251", source="Orphanet:448251/e"} xref: Orphanet:448251 {source="MONDO:equivalentTo"} xref: UMLS:C4225383 {source="MEDGEN:898996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="DOID:0080065"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080065", source="OMIM:616291"} ! autosomal recessive cerebellar ataxia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11071 {source="MONDO:mim2gene_medgen"} ! SLC9A1 [Term] @@ -336594,7 +336981,7 @@ xref: Orphanet:3451 {source="OMIM:616341"} xref: UMLS:C4225360 {source="MONDO:equivalentTo", source="MEDGEN:898954", source="MONDO:MEDGEN"} is_a: MONDO:0016022 {source="Orphanet:1935/btnt"} ! early myoclonic encephalopathy is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:616341", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616341", source="DOID:0080465", source="MONDO:Redundant", source="OMIM:616341"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 ! SIK1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11142 {source="MONDO:mim2gene_medgen"} ! SIK1 @@ -336612,7 +336999,7 @@ xref: DOID:0112231 {source="MONDO:equivalentTo"} xref: MEDGEN:895680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616342 {source="MONDO:equivalentTo"} xref: UMLS:C4225359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:895680"} -is_a: MONDO:0018838 {source="DC-OMIM:616342", source="OMIM:616342"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DC-OMIM:616342", source="DOID:0112231", source="OMIM:616342"} ! lissencephaly spectrum disorders relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1774 {source="MONDO:mim2gene_medgen"} ! CDK5 [Term] @@ -336630,7 +337017,7 @@ xref: DOID:0111969 {source="MONDO:equivalentTo"} xref: MEDGEN:904167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616345 {source="MONDO:equivalentTo"} xref: UMLS:C4225358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904167"} -is_a: MONDO:0003778 {source="DC-OMIM:616345", source="MONDO:Redundant"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DC-OMIM:616345", source="DOID:0111969", source="MONDO:Redundant"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003778 ! inborn error of immunity intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6122 ! IRF7 @@ -336748,7 +337135,7 @@ xref: OMIM:616354 {source="Orphanet:397709", source="DOID:0080066", source="MOND xref: Orphanet:397709 {source="MONDO:equivalentTo", source="OMIM:616354"} xref: UMLS:C5190595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684324"} is_a: MONDO:0015159 {source="Orphanet:397709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080066", source="MONDO:Redundant", source="OMIM:616354"} ! autosomal recessive cerebellar ataxia is_a: MONDO:0020022 ! central nervous system malformation intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14977 ! SNX14 @@ -336842,7 +337229,7 @@ xref: OMIM:616361 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:616361"} xref: UMLS:C4225353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903105"} is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:616361"} ! Parkinson disease -is_a: MONDO:0008199 {source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease +is_a: MONDO:0008199 {source="DOID:0111251", source="MONDO:Redundant", source="Orphanet:411602/btnt"} ! late-onset Parkinson disease intersection_of: MONDO:0008199 ! late-onset Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30343 ! DNAJC13 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -336912,6 +337299,7 @@ xref: Orphanet:468678 {source="MONDO:equivalentTo"} xref: UMLS:C4225351 {source="MEDGEN:897984", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:468678", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:468678"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:616364"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070067", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -337035,7 +337423,7 @@ xref: OMIM:616370 {source="DOID:0080136", source="MONDO:equivalentTo", source="O xref: Orphanet:457406 {source="MONDO:equivalentTo"} xref: UMLS:C4225348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899010"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disorder -is_a: MONDO:0017338 {source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0080136", source="MONDO:Redundant", source="OMIM:616370", source="Orphanet:457406"} ! fatal multiple mitochondrial dysfunctions syndrome is_a: MONDO:0019046 {source="Orphanet:457406"} ! leukodystrophy intersection_of: MONDO:0017338 ! fatal multiple mitochondrial dysfunctions syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19857 ! ISCA2 @@ -337106,6 +337494,7 @@ xref: MEDGEN:906532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616389 {source="DOID:0110714", source="MONDO:equivalentTo"} xref: Orphanet:215 {source="OMIM:616389"} xref: UMLS:C4225345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906532"} +is_a: MONDO:0006025 {source="DOID:0110714"} ! autosomal recessive disease is_a: MONDO:0016293 {source="DC-OMIM:616389", source="DOID:0110714", source="MONDO:Redundant", source="OMIM:616389"} ! congenital stationary night blindness intersection_of: MONDO:0016293 ! congenital stationary night blindness intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -337128,7 +337517,7 @@ xref: MEDGEN:905904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C173103 {source="MONDO:equivalentTo"} xref: OMIM:616390 {source="MONDO:equivalentTo"} xref: UMLS:C4225344 {source="MEDGEN:905904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002470 {source="DC-OMIM:616390", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy +is_a: MONDO:0002470 {source="DC-OMIM:616390", source="DOID:0111869", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616390"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3435 ! ERCC3 @@ -337217,7 +337606,7 @@ xref: MEDGEN:865608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C173099 {source="MONDO:equivalentTo"} xref: OMIM:616395 {source="MONDO:equivalentTo"} xref: UMLS:C4017171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:865608"} -is_a: MONDO:0002470 {source="DC-OMIM:616395", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy +is_a: MONDO:0002470 {source="DC-OMIM:616395", source="DOID:0111871", source="MONDO:Redundant"} ! photosensitive trichothiodystrophy is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:616395"} ! trichothiodystrophy intersection_of: MONDO:0002470 ! photosensitive trichothiodystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21157 ! GTF2H5 @@ -337312,7 +337701,7 @@ xref: GARD:16105 {source="MONDO:GARD"} xref: MEDGEN:906798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616402 {source="MONDO:equivalentTo"} xref: UMLS:C4225338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906798"} -is_a: MONDO:0016660 {source="DC-OMIM:616402", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:616402", source="DOID:0070279", source="MONDO:Redundant", source="OMIM:616402"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 ! SASS6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25403 {source="MONDO:mim2gene_medgen"} ! SASS6 @@ -337497,7 +337886,7 @@ xref: OMIM:616415 {source="Orphanet:454840", source="MONDO:equivalentTo", source xref: Orphanet:454840 {source="MONDO:equivalentTo"} xref: UMLS:C4225157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902388"} is_a: MONDO:0016362 {source="Orphanet:454840"} ! attenuated familial adenomatous polyposis -is_a: MONDO:0021055 {source="OMIM:616415"} ! classic familial adenomatous polyposis +is_a: MONDO:0021055 {source="DOID:0080411", source="OMIM:616415"} ! classic familial adenomatous polyposis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8028 {source="MONDO:mim2gene_medgen"} ! NTHL1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5374" xsd:anyURI @@ -337573,7 +337962,7 @@ xref: OMIM:616425 {source="MONDO:equivalentTo"} xref: Orphanet:242 {source="OMIM:616425"} xref: Orphanet:251510 {source="OMIM:616425"} xref: UMLS:C4225331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897538"} -is_a: MONDO:0010765 {source="OMIM:616425", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111775", source="OMIM:616425", source="Orphanet:242/btnt"} ! 46,XY complete gonadal dysgenesis is_a: MONDO:0016674 {source="Orphanet:251510/btnt"} ! 46,XY partial gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11204 {source="MONDO:mim2gene_medgen"} ! SOX9 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -337621,7 +338010,7 @@ xref: MEDGEN:1799165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616430 {source="Orphanet:447954", source="MONDO:equivalentTo", source="Orphanet:447954/e"} xref: Orphanet:447954 {source="MONDO:equivalentTo"} xref: UMLS:C5567742 {source="MEDGEN:1799165", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:616430", source="MONDO:Redundant", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616430", source="DOID:0111468", source="MONDO:Redundant", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25133 ! MARS2 @@ -337696,7 +338085,7 @@ xref: MEDGEN:907609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616436 {source="DOID:0060751", source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="OMIM:616436", source="DOID:0060751"} xref: UMLS:C4225327 {source="MEDGEN:907609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005115 {source="OMIM:616436"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DOID:0060751", source="OMIM:616436"} ! temporal lobe epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9957 {source="MONDO:mim2gene_medgen"} ! RELN [Term] @@ -337902,7 +338291,7 @@ xref: UMLS:C4225320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005500 {source="DC-OMIM:616457"} ! congenital disorder of glycosylation type I is_a: MONDO:0017749 {source="Orphanet:448010"} ! disorder of multiple glycosylation is_a: MONDO:0019238 {source="Orphanet:448010"} ! inborn disorder of pyrimidine metabolism -is_a: MONDO:0100062 {source="OMIM:616457"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080419", source="OMIM:616457"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1424 {source="MONDO:mim2gene_medgen"} ! CAD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -337941,7 +338330,7 @@ xref: GARD:22570 {source="MONDO:GARD"} xref: MEDGEN:906893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616460 {source="MONDO:equivalentTo"} xref: UMLS:C4225319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906893"} -is_a: MONDO:0019502 {source="DC-OMIM:616460", source="MONDO:Redundant", source="OMIM:616460"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:616460", source="DOID:0081213", source="MONDO:Redundant", source="OMIM:616460"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 ! EDC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26114 {source="MONDO:mim2gene_medgen"} ! EDC3 @@ -337964,7 +338353,7 @@ xref: MEDGEN:909158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616461 {source="DOID:0060754", source="MONDO:equivalentTo"} xref: Orphanet:101046 {source="DOID:0060754"} xref: UMLS:C4225318 {source="MEDGEN:909158", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005115 {source="OMIM:616461"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DOID:0060754", source="OMIM:616461"} ! temporal lobe epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4114 {source="MONDO:mim2gene_medgen"} ! GAL [Term] @@ -338007,7 +338396,7 @@ xref: MEDGEN:902559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616468 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:616468"} xref: UMLS:C4225316 {source="MEDGEN:902559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019516 {source="DC-OMIM:616468", source="MONDO:Redundant", source="OMIM:616468"} ! exudative vitreoretinopathy +is_a: MONDO:0019516 {source="DC-OMIM:616468", source="DOID:0111410", source="MONDO:Redundant", source="OMIM:616468"} ! exudative vitreoretinopathy intersection_of: MONDO:0019516 ! exudative vitreoretinopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 ! ZNF408 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20041 {source="MONDO:mim2gene_medgen"} ! ZNF408 @@ -338052,7 +338441,7 @@ xref: GARD:16120 {source="MONDO:GARD"} xref: MEDGEN:899150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616470 {source="MONDO:equivalentTo"} xref: UMLS:C4225314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899150"} -is_a: MONDO:0000355 {source="MONDO:0014654/inferred", source="MONDO:Redundant", source="OMIM:616470"} ! Ullrich congenital muscular dystrophy +is_a: MONDO:0000355 {source="DOID:0060948", source="MONDO:0014654/inferred", source="MONDO:Redundant", source="OMIM:616470"} ! Ullrich congenital muscular dystrophy intersection_of: MONDO:0000355 ! Ullrich congenital muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -338194,7 +338583,7 @@ xref: MEDGEN:895496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616486 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="OMIM:616486"} xref: UMLS:C4225310 {source="MEDGEN:895496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="DC-OMIM:616486", source="OMIM:616486"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:616486", source="DOID:0070277", source="OMIM:616486"} ! autosomal recessive primary microcephaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25897 {source="MONDO:mim2gene_medgen"} ! MFSD2A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -338258,7 +338647,7 @@ xref: GARD:18463 {source="MONDO:GARD"} xref: MEDGEN:894912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616489 {source="MONDO:equivalentTo"} xref: UMLS:C4225307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:894912"} -is_a: MONDO:0008394 {source="https://orcid.org/0000-0001-5208-3432"} ! Silver-Russell syndrome +is_a: MONDO:0008394 {source="OMIM:616489", source="https://orcid.org/0000-0001-5208-3432"} ! Silver-Russell syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5466 {source="MONDO:mim2gene_medgen"} ! IGF2 [Term] @@ -338365,7 +338754,7 @@ xref: MEDGEN:903495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616500 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:616500"} xref: UMLS:C4225154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903495"} -is_a: MONDO:0015487 {source="DC-OMIM:616500", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy +is_a: MONDO:0015487 {source="DC-OMIM:616500", source="DOID:0080359", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 ! COA5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33848 {source="MONDO:mim2gene_medgen"} ! COA5 @@ -338390,7 +338779,7 @@ xref: MEDGEN:905398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616501 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:616501"} xref: UMLS:C4225304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905398"} -is_a: MONDO:0015487 {source="DC-OMIM:616501", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy +is_a: MONDO:0015487 {source="DC-OMIM:616501", source="DOID:0080360", source="MONDO:Redundant"} ! fatal infantile encephalocardiomyopathy intersection_of: MONDO:0015487 ! fatal infantile encephalocardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 ! COA6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18025 {source="MONDO:mim2gene_medgen"} ! COA6 @@ -338414,7 +338803,7 @@ xref: GARD:16125 {source="MONDO:GARD"} xref: MEDGEN:891534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616502 {source="MONDO:equivalentTo"} xref: UMLS:C4049066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:891534"} -is_a: MONDO:0015993 {source="MONDO:Redundant"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DOID:0081447", source="MONDO:Redundant", source="OMIM:616502"} ! cone-rod dystrophy intersection_of: MONDO:0015993 ! cone-rod dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 ! DRAM2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28769 {source="MONDO:mim2gene_medgen"} ! DRAM2 @@ -338592,7 +338981,7 @@ xref: OMIM:616516 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:616516"} xref: Orphanet:98855 {source="OMIM:616516"} xref: UMLS:C2750035 {source="MEDGEN:413212", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016830 {source="MESH:C567633", source="MONDO:Redundant", source="OMIM:616516"} ! Emery-Dreifuss muscular dystrophy +is_a: MONDO:0016830 {source="DOID:0070248", source="MESH:C567633", source="MONDO:Redundant", source="OMIM:616516"} ! Emery-Dreifuss muscular dystrophy is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6636 {source="MONDO:mim2gene_medgen"} ! LMNA @@ -338785,7 +339174,7 @@ xref: MEDGEN:1799164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616539 {source="Orphanet:477684", source="MONDO:equivalentTo"} xref: Orphanet:477684 {source="MONDO:equivalentTo"} xref: UMLS:C5567741 {source="MEDGEN:1799164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:616539", source="MONDO:Redundant", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616539", source="DOID:0111490", source="MONDO:Redundant", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23141 ! TRMT5 @@ -338815,7 +339204,7 @@ xref: MEDGEN:901242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616540 {source="Orphanet:457265/e", source="MONDO:equivalentTo", source="Orphanet:457265"} xref: Orphanet:457265 {source="MONDO:equivalentTo"} xref: UMLS:C4225289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901242"} -is_a: MONDO:0020074 {source="DC-OMIM:616540", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:616540", source="DOID:0111450", source="MONDO:Redundant", source="OMIM:616540", source="Orphanet:457265"} ! progressive myoclonus epilepsy intersection_of: MONDO:0020074 ! progressive myoclonus epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 ! LMNB2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6638 {source="MONDO:mim2gene_medgen"} ! LMNB2 @@ -338906,7 +339295,7 @@ xref: MEDGEN:894399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616549 {source="Orphanet:447974", source="MONDO:equivalentTo", source="Orphanet:447974/e"} xref: Orphanet:447974 {source="MONDO:equivalentTo"} xref: UMLS:C4225285 {source="MEDGEN:894399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001029 {source="OMIM:616549"} ! Klippel-Feil syndrome +is_a: MONDO:0001029 {source="DOID:0080592", source="OMIM:616549"} ! Klippel-Feil syndrome is_a: MONDO:0019952 {source="Orphanet:447974"} ! congenital myopathy relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18150 {source="MONDO:mim2gene_medgen"} ! MYO18B @@ -338932,6 +339321,7 @@ xref: OMIM:616553 {source="DOID:0070023", source="MONDO:equivalentTo"} xref: Orphanet:3322 {source="MONDO:relatedTo", source="OMIM:616553"} xref: Orphanet:397692 {source="OMIM:616553"} xref: UMLS:C4225284 {source="MEDGEN:904824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0070023"} ! autosomal dominant disease is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0015780 {source="DOID:0070023", source="MONDO:Redundant", source="OMIM:616553"} ! dyskeratosis congenita is_a: MONDO:0100569 {source="https://orcid.org/0009-0007-0138-2054"} ! ACD-related short telomere syndrome @@ -339065,7 +339455,7 @@ xref: OMIM:616570 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:616570"} xref: Orphanet:191 {source="OMIM:616570"} xref: UMLS:C1851443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342008"} -is_a: MONDO:0008926 {source="DC-OMIM:616570", source="OMIM:616570"} ! COFS syndrome +is_a: MONDO:0008926 {source="DC-OMIM:616570", source="DOID:0080913", source="OMIM:616570"} ! COFS syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:616570"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3437 {source="MONDO:mim2gene_medgen"} ! ERCC5 @@ -339088,7 +339478,7 @@ xref: GARD:16141 {source="MONDO:GARD"} xref: MEDGEN:906018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616576 {source="MONDO:equivalentTo"} xref: UMLS:C4225277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906018"} -is_a: MONDO:0015517 {source="DC-OMIM:616576", source="MONDO:Redundant", source="OMIM:616576"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:616576", source="DOID:0081154", source="MONDO:Redundant", source="OMIM:616576"} ! common variable immunodeficiency intersection_of: MONDO:0015517 ! common variable immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 ! NFKB1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7794 {source="MONDO:mim2gene_medgen"} ! NFKB1 @@ -339204,7 +339594,7 @@ xref: MEDGEN:905084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616583 {source="MONDO:equivalentTo", source="Orphanet:459051", source="Orphanet:459051/e"} xref: Orphanet:459051 {source="MONDO:equivalentTo"} xref: UMLS:C4225273 {source="MEDGEN:905084", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016761 {source="Orphanet:459051"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112281", source="Orphanet:459051"} ! spondyloepiphyseal dysplasia is_a: MONDO:0022800 {source="Orphanet:459051", source="PMID:31633310"} ! type 2 collagenopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -339561,7 +339951,7 @@ xref: NANDO:2200770 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:616636 {source="Orphanet:431166", source="MONDO:equivalentTo", source="Orphanet:431166/e"} xref: Orphanet:431166 {source="MONDO:equivalentTo"} xref: UMLS:C4225260 {source="MEDGEN:904009", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DOID:0111975", source="https://orcid.org/0000-0001-7941-2961"} ! inborn error of immunity is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11363 {source="MONDO:mim2gene_medgen"} ! STAT2 @@ -339619,7 +340009,7 @@ xref: OMIM:616640 {source="MONDO:equivalentTo", source="Orphanet:324290", source xref: Orphanet:324290 {source="MONDO:equivalentTo"} xref: SCTID:733082001 {source="MONDO:equivalentTo"} xref: UMLS:C4225258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907932"} -is_a: MONDO:0020074 {source="DC-OMIM:616640", source="OMIM:616640", source="Orphanet:324290"} ! progressive myoclonus epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:616640", source="DOID:0111445", source="OMIM:616640", source="Orphanet:324290"} ! progressive myoclonus epilepsy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13993 {source="MONDO:mim2gene_medgen"} ! PRDM8 [Term] @@ -339672,7 +340062,7 @@ xref: Orphanet:457375 {source="MONDO:equivalentTo"} xref: UMLS:C4225256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904159"} is_a: MONDO:0019236 {source="Orphanet:457375"} ! inborn disorder of purine metabolism is_a: MONDO:0024237 {source="MONDO:Redundant", source="Orphanet:457375"} ! inherited neurodegenerative disorder -is_a: MONDO:0100062 {source="DC-OMIM:616647", source="OMIM:616647"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616647", source="DOID:0080458", source="OMIM:616647"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6176 {source="MONDO:mim2gene_medgen"} ! ITPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -339871,7 +340261,7 @@ xref: DOID:0111994 {source="MONDO:equivalentTo"} xref: MEDGEN:901044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616669 {source="MONDO:equivalentTo"} xref: UMLS:C4225252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:901044"} -is_a: MONDO:0021094 {source="OMIMPS:300755"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="OMIM:616669", source="OMIMPS:300755"} ! immunodeficiency disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5433 {source="MONDO:mim2gene_medgen"} ! IFNAR2 [Term] @@ -339894,7 +340284,7 @@ xref: MEDGEN:1799031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616672 {source="Orphanet:477774", source="MONDO:equivalentTo"} xref: Orphanet:477774 {source="MONDO:equivalentTo"} xref: UMLS:C5567608 {source="MEDGEN:1799031", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:616672", source="MONDO:Redundant", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616672", source="DOID:0111489", source="MONDO:Redundant", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25695 ! CARS2 @@ -339944,7 +340334,7 @@ xref: GARD:16151 {source="MONDO:GARD"} xref: MEDGEN:898705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616681 {source="MONDO:equivalentTo"} xref: UMLS:C4225249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:898705"} -is_a: MONDO:0016660 {source="DC-OMIM:616681", source="OMIM:616681"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:616681", source="DOID:0070289", source="OMIM:616681"} ! autosomal recessive primary microcephaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29101 {source="MONDO:mim2gene_medgen"} ! ANKLE2 [Term] @@ -340156,7 +340546,7 @@ xref: GARD:16152 {source="MONDO:GARD"} xref: MEDGEN:908701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616689 {source="MONDO:equivalentTo"} xref: UMLS:C4225242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908701"} -is_a: MONDO:0017910 {source="DC-OMIM:616689", source="MONDO:Redundant"} ! dehydrated hereditary stomatocytosis +is_a: MONDO:0017910 {source="DC-OMIM:616689", source="DOID:0111577", source="MONDO:Redundant"} ! dehydrated hereditary stomatocytosis intersection_of: MONDO:0017910 ! dehydrated hereditary stomatocytosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 ! KCNN4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6293 {source="MONDO:mim2gene_medgen"} ! KCNN4 @@ -340290,7 +340680,7 @@ xref: MEDGEN:907886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616710 {source="MONDO:equivalentTo"} xref: UMLS:C4225238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907886"} is_a: MONDO:0005180 {source="DC-OMIM:616710", source="MONDO:Redundant", source="OMIM:616710"} ! Parkinson disease -is_a: MONDO:0008199 {source="PMID:27270108"} ! late-onset Parkinson disease +is_a: MONDO:0008199 {source="DOID:0080504", source="PMID:27270108"} ! late-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21645 ! CHCHD2 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -340409,7 +340799,7 @@ xref: MEDGEN:899837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616721 {source="Orphanet:468699", source="MONDO:equivalentTo"} xref: Orphanet:468699 {source="MONDO:equivalentTo"} xref: UMLS:C4225234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899837"} -is_a: MONDO:0005501 {source="DC-OMIM:616721", source="OMIM:616721"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:616721", source="DOID:0070266", source="OMIM:616721"} ! congenital disorder of glycosylation type II is_a: MONDO:0015159 {source="Orphanet:468699"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0017740 {source="Orphanet:468699"} ! disorder of protein N-glycosylation is_a: MONDO:0020022 ! central nervous system malformation @@ -340606,7 +340996,7 @@ xref: DOID:0070245 {source="MONDO:equivalentTo"} xref: MEDGEN:908648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616733 {source="MONDO:equivalentTo"} xref: UMLS:C4225226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908648"} -is_a: MONDO:0018151 {source="DC-OMIM:616733", source="MONDO:Redundant", source="OMIM:616733"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DC-OMIM:616733", source="DOID:0070245", source="MONDO:Redundant", source="OMIM:616733"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 ! COQ7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2244 {source="MONDO:mim2gene_medgen"} ! COQ7 @@ -340628,7 +341018,7 @@ xref: GARD:16156 {source="MONDO:GARD"} xref: MEDGEN:902880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616734 {source="MONDO:equivalentTo"} xref: UMLS:C4225225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902880"} -is_a: MONDO:0007990 {source="MONDO:Redundant", source="Orphanet:2505/btnt"} ! multiple benign circumferential skin creases on limbs +is_a: MONDO:0007990 {source="DOID:0112243", source="MONDO:Redundant", source="Orphanet:2505/btnt"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6891 ! MAPRE2 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -340651,7 +341041,7 @@ xref: DOID:0111432 {source="MONDO:equivalentTo"} xref: MEDGEN:897748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616736 {source="MONDO:equivalentTo"} xref: UMLS:C4225223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897748"} -is_a: MONDO:0003233 {source="DC-OMIM:616736", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:616736", source="DOID:0111432", source="MONDO:Redundant", source="OMIM:616736"} ! essential tremor is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0003233 ! essential tremor intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29945 ! TENM4 @@ -340736,7 +341126,7 @@ xref: GARD:22571 {source="MONDO:GARD"} xref: MEDGEN:903243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616739 {source="MONDO:equivalentTo"} xref: UMLS:C4225220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903243"} -is_a: MONDO:0019502 {source="DC-OMIM:616739", source="MONDO:Redundant", source="OMIM:616739"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:616739", source="DOID:0081214", source="MONDO:Redundant", source="OMIM:616739"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 ! HNMT relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5028 {source="MONDO:mim2gene_medgen"} ! HNMT @@ -340859,7 +341249,7 @@ xref: GARD:16157 {source="MONDO:GARD"} xref: MEDGEN:902275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616760 {source="MONDO:equivalentTo"} xref: UMLS:C4225214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:902275"} -is_a: MONDO:0008686 {source="MONDO:Redundant", source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder +is_a: MONDO:0008686 {source="DOID:0111574", source="MONDO:Redundant", source="Orphanet:170/btnt"} ! isolated familial wooly hair disorder intersection_of: MONDO:0008686 ! isolated familial wooly hair disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 ! KRT25 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30839 {source="MONDO:mim2gene_medgen"} ! KRT25 @@ -341078,7 +341468,7 @@ xref: OMIM:616794 {source="Orphanet:466784", source="MONDO:equivalentTo"} xref: Orphanet:466784 {source="MONDO:equivalentTo", source="OMIM:616794"} xref: UMLS:C5569081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800504"} is_a: MONDO:0000001 {source="OMIM:616794"} ! disease -is_a: MONDO:0000732 {source="DC-OMIM:616794", source="MONDO:Redundant", source="OMIM:616794"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616794", source="DOID:0111470", source="MONDO:Redundant", source="OMIM:616794"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0016801 {source="Orphanet:466784"} ! mitochondrial substrate carrier disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency @@ -341199,7 +341589,7 @@ xref: GARD:18354 {source="MONDO:GARD"} xref: MEDGEN:906509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616809 {source="MONDO:equivalentTo"} xref: UMLS:C4225201 {source="MEDGEN:906509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016596 {source="MONDO:Redundant", source="OMIM:616809", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome +is_a: MONDO:0016596 {source="DOID:0070437", source="MONDO:Redundant", source="OMIM:616809", source="Orphanet:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome intersection_of: MONDO:0016596 ! hyperphosphatasia-intellectual disability syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 ! PIGY relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28213 {source="MONDO:mim2gene_medgen"} ! PIGY @@ -341226,7 +341616,8 @@ xref: OMIM:616811 {source="MONDO:equivalentTo"} xref: Orphanet:478029 {source="MONDO:equivalentTo"} xref: UMLS:C5567607 {source="MEDGEN:1799030", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="Orphanet:478029"} ! disease -is_a: MONDO:0000732 {source="DC-OMIM:616811", source="MONDO:Redundant", source="OMIM:616811"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616811", source="DOID:0111501", source="MONDO:Redundant", source="OMIM:616811"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0006025 {source="DOID:0111501"} ! autosomal recessive disease is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0024237 {source="Orphanet:478029"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency @@ -341342,6 +341733,7 @@ synonym: "susceptibility to IgA nephropathy 3" RELATED [OMIM:616818] xref: MEDGEN:897340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616818 {source="MONDO:equivalentTo"} xref: UMLS:C4225194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897340"} +is_a: MONDO:0100555 {source="OMIM:616818"} ! IgA nephropathy, susceptibility to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11270 ! SPRY2 intersection_of: predisposes_towards MONDO:0005342 ! IgA glomerulonephritis @@ -341425,7 +341817,7 @@ xref: MEDGEN:906792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616828 {source="MONDO:equivalentTo", source="Orphanet:468684"} xref: Orphanet:468684 {source="MONDO:equivalentTo"} xref: UMLS:C4225191 {source="MONDO:equivalentTo", source="MEDGEN:906792", source="MONDO:MEDGEN"} -is_a: MONDO:0005501 {source="DC-OMIM:616828", source="OMIM:616828"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:616828", source="DOID:0070267", source="OMIM:616828"} ! congenital disorder of glycosylation type II is_a: MONDO:0017749 {source="Orphanet:468684"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28178 {source="MONDO:mim2gene_medgen"} ! CCDC115 @@ -341453,7 +341845,7 @@ xref: MEDGEN:895025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616829 {source="MONDO:equivalentTo", source="Orphanet:466703"} xref: Orphanet:466703 {source="MONDO:equivalentTo"} xref: UMLS:C4225190 {source="MEDGEN:895025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005501 {source="DC-OMIM:616829", source="OMIM:616829"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DC-OMIM:616829", source="DOID:0070268", source="OMIM:616829"} ! congenital disorder of glycosylation type II is_a: MONDO:0017749 {source="Orphanet:466703"} ! disorder of multiple glycosylation relationship: has_characteristic MONDO:0021136 {source="MONDO:0018799"} ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18085 {source="MONDO:mim2gene_medgen"} ! TMEM199 @@ -341494,7 +341886,7 @@ xref: MEDGEN:908743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616833 {source="MONDO:equivalentTo"} xref: UMLS:C4085250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908743"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005382 {source="DC-OMIM:616833", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease +is_a: MONDO:0005382 {source="DC-OMIM:616833", source="DOID:0081369", source="MONDO:Redundant", source="OMIM:616833"} ! bone Paget disease intersection_of: MONDO:0005382 ! bone Paget disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 ! ZNF687 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29277 {source="MONDO:mim2gene_medgen"} ! ZNF687 @@ -341545,7 +341937,7 @@ xref: GARD:16163 {source="MONDO:GARD"} xref: MEDGEN:905079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616835 {source="MONDO:equivalentTo"} xref: UMLS:C4225188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905079"} -is_a: MONDO:0016817 {source="DC-OMIM:616835", source="MONDO:Redundant", source="OMIM:616835"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:616835", source="DOID:0080517", source="MONDO:Redundant", source="OMIM:616835"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 ! GMNN relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17493 {source="MONDO:mim2gene_medgen"} ! GMNN @@ -341717,7 +342109,7 @@ xref: GARD:16470 {source="MONDO:GARD"} xref: MEDGEN:908796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616858 {source="MONDO:equivalentTo"} xref: UMLS:C4225179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908796"} -is_a: MONDO:0016063 {source="DC-OMIM:616858", source="MONDO:Redundant", source="OMIM:616858"} ! Cowden disease +is_a: MONDO:0016063 {source="DC-OMIM:616858", source="DOID:0081003", source="MONDO:Redundant", source="OMIM:616858"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10702 ! SEC23B relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:616858"} ! Autosomal dominant inheritance @@ -341940,7 +342332,7 @@ xref: MEDGEN:905078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616873 {source="MONDO:equivalentTo", source="Orphanet:317473", source="Orphanet:317473/e"} xref: Orphanet:317473 {source="MONDO:equivalentTo"} xref: UMLS:C4225173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:905078"} -is_a: MONDO:0015517 {source="DC-OMIM:616873", source="OMIM:616873"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DC-OMIM:616873", source="DOID:0081155", source="OMIM:616873"} ! common variable immunodeficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13176 {source="MONDO:mim2gene_medgen"} ! IKZF1 [Term] @@ -342035,7 +342427,7 @@ xref: GARD:22572 {source="MONDO:GARD"} xref: MEDGEN:903181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616887 {source="MONDO:equivalentTo"} xref: UMLS:C4225168 {source="MEDGEN:903181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:616887", source="MONDO:Redundant", source="OMIM:616887"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:616887", source="DOID:0081215", source="MONDO:Redundant", source="OMIM:616887"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 ! LMAN2L relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19263 {source="MONDO:mim2gene_medgen"} ! LMAN2L @@ -342157,7 +342549,7 @@ xref: MEDGEN:903789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616896 {source="MONDO:equivalentTo"} xref: UMLS:C4225163 {source="MEDGEN:903789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004069 {source="DOID:0080336"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0018158 {source="DC-OMIM:616896", source="MONDO:Redundant", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:616896", source="DOID:0080336", source="MONDO:Redundant", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 ! OPA1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8140 {source="MONDO:mim2gene_medgen"} ! OPA1 @@ -342387,7 +342779,7 @@ xref: MEDGEN:934764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616913 {source="MONDO:equivalentTo", source="DOID:0111055", source="Orphanet:466806"} xref: Orphanet:466806 {source="MONDO:equivalentTo", source="DOID:0111055"} xref: UMLS:C4310797 {source="MEDGEN:934764", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="DC-OMIM:616913", source="MONDO:Redundant", source="OMIM:616913"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:616913", source="DOID:0111055", source="MONDO:Redundant", source="OMIM:616913"} ! inherited bleeding disorder, platelet-type intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 ! SLFN14 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/32689 {source="MONDO:mim2gene_medgen"} ! SLFN14 @@ -342566,7 +342958,7 @@ xref: GARD:16170 {source="MONDO:GARD"} xref: MEDGEN:934755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616938 {source="MONDO:equivalentTo"} xref: UMLS:C4310788 {source="MEDGEN:934755", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015452 {source="DC-OMIM:616938", source="MONDO:Redundant", source="OMIM:616938", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DC-OMIM:616938", source="DOID:0112368", source="MONDO:Redundant", source="OMIM:616938", source="Orphanet:1465/btnt"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy intersection_of: MONDO:0015452 ! Coffin-Siris syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11109 ! SMARCE1 @@ -342725,7 +343117,7 @@ xref: DOID:0111614 {source="MONDO:equivalentTo"} xref: MEDGEN:934748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616948 {source="MONDO:equivalentTo"} xref: UMLS:C4310781 {source="MONDO:equivalentTo", source="MEDGEN:934748", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0111614", source="MONDO:Redundant", source="OMIM:616948", source="https://orcid.org/0000-0002-6601-2165"} ! autosomal recessive cerebellar ataxia intersection_of: MONDO:0015244 ! autosomal recessive cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 ! VWA3B relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28385 {source="MONDO:mim2gene_medgen"} ! VWA3B @@ -342772,7 +343164,7 @@ xref: GARD:16173 {source="MONDO:GARD"} xref: MEDGEN:934746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616950 {source="MONDO:equivalentTo"} xref: UMLS:C4310779 {source="MEDGEN:934746", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:616950", source="MONDO:Redundant", source="OMIM:616950"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:616950", source="DOID:0070172", source="MONDO:Redundant", source="OMIM:616950"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28852 ! SYCE1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28852 ! SYCE1 @@ -342980,7 +343372,7 @@ xref: MEDGEN:1799028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616974 {source="MONDO:equivalentTo", source="Orphanet:478042"} xref: Orphanet:478042 {source="MONDO:equivalentTo"} xref: UMLS:C5567605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799028"} -is_a: MONDO:0000732 {source="DC-OMIM:616974", source="MONDO:Redundant", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:616974", source="DOID:0111471", source="MONDO:Redundant", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26022 ! TRMT10C @@ -343061,7 +343453,7 @@ xref: DOID:0080435 {source="MONDO:equivalentTo"} xref: MEDGEN:934737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616981 {source="MONDO:equivalentTo"} xref: UMLS:C4310770 {source="MONDO:equivalentTo", source="MEDGEN:934737", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:616981", source="MONDO:Redundant", source="OMIM:616981"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:616981", source="DOID:0080435", source="MONDO:Redundant", source="OMIM:616981"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 ! FRRS1L relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1362 {source="MONDO:mim2gene_medgen"} ! FRRS1L @@ -343123,7 +343515,7 @@ xref: GARD:18310 {source="MONDO:GARD"} xref: MEDGEN:934734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617008 {source="MONDO:equivalentTo"} xref: UMLS:C4310767 {source="MEDGEN:934734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016215 {source="DC-OMIM:617008", source="MONDO:Redundant", source="OMIM:617008"} ! spastic quadriplegic cerebral palsy +is_a: MONDO:0016215 {source="DC-OMIM:617008", source="DOID:0081361", source="MONDO:Redundant", source="OMIM:617008"} ! spastic quadriplegic cerebral palsy is_a: MONDO:0100516 {source="https://www.clinicalgenome.org/affiliation/40113/"} ! complex neurodevelopmental disorder with motor features intersection_of: MONDO:0016215 ! spastic quadriplegic cerebral palsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/245 ! ADD3 @@ -343164,7 +343556,7 @@ xref: OMIM:617013 {source="MONDO:equivalentTo", source="Orphanet:521406"} xref: Orphanet:521406 {source="MONDO:equivalentTo"} xref: SCTID:768554008 {source="MONDO:equivalentTo"} xref: UMLS:C4310765 {source="MEDGEN:934732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000214 {source="DC-OMIM:617013", source="MONDO:Redundant", source="OMIM:617013"} ! hypermanganesemia with dystonia +is_a: MONDO:0000214 {source="DC-OMIM:617013", source="DOID:0080537", source="MONDO:Redundant", source="OMIM:617013"} ! hypermanganesemia with dystonia is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0017766 {source="Orphanet:521406"} ! disorder of manganese transport @@ -343194,6 +343586,7 @@ xref: OMIM:617014 {source="MONDO:equivalentTo", source="Orphanet:420702", source xref: Orphanet:420702 {source="MONDO:equivalentTo"} xref: UMLS:C4310764 {source="MEDGEN:934731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018542 {source="DC-OMIM:617014", source="OMIM:617014", source="Orphanet:420702", source="Orphanet:420702/inferred"} ! severe congenital neutropenia +is_a: MONDO:0028226 {source="Orphanet:420702"} ! autosomal recessive severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2439 ! CSF3R @@ -343254,7 +343647,7 @@ xref: MEDGEN:934730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617018 {source="MONDO:equivalentTo"} xref: Orphanet:497764 {source="MONDO:equivalentTo"} xref: UMLS:C4310763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934730"} -is_a: MONDO:0020380 {source="DC-OMIM:617018", source="EFO:0009060/inferred", source="MONDO:Redundant", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DC-OMIM:617018", source="DOID:0111745", source="EFO:0009060/inferred", source="MONDO:Redundant", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 ! MME relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7154 {source="MONDO:mim2gene_medgen"} ! MME @@ -343279,7 +343672,7 @@ xref: GARD:16175 {source="MONDO:GARD"} xref: MEDGEN:934729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617020 {source="MONDO:equivalentTo"} xref: UMLS:C4310762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934729"} -is_a: MONDO:0100062 {source="DC-OMIM:617020", source="MONDO:Redundant", source="OMIM:617020"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617020", source="DOID:0080417", source="MONDO:Redundant", source="OMIM:617020"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 ! ARV1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29561 {source="MONDO:mim2gene_medgen"} ! ARV1 @@ -343424,7 +343817,7 @@ xref: GARD:16178 {source="MONDO:GARD"} xref: MEDGEN:934724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617026 {source="MONDO:equivalentTo"} xref: UMLS:C4310757 {source="MEDGEN:934724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016759 {source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 +is_a: MONDO:0016759 {source="DOID:0112329", source="Orphanet:2524/btnt"} ! pontocerebellar hypoplasia type 2 is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:617026"} ! pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! pontocerebellar hypoplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16791 ! TSEN15 @@ -343449,7 +343842,7 @@ xref: MEDGEN:934723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617027 {source="MONDO:equivalentTo"} xref: Orphanet:642671 {source="MONDO:equivalentTo"} xref: UMLS:C4310756 {source="MEDGEN:934723", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016525 {source="OMIM:617027"} ! familial hyperaldosteronism +is_a: MONDO:0016525 {source="OMIM:617027", source="Orphanet:642671"} ! familial hyperaldosteronism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1395 {source="MONDO:mim2gene_medgen"} ! CACNA1H [Term] @@ -343472,7 +343865,7 @@ xref: GARD:22573 {source="MONDO:GARD"} xref: MEDGEN:934722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617028 {source="MONDO:equivalentTo"} xref: UMLS:C4310755 {source="MEDGEN:934722", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="DC-OMIM:617028", source="MONDO:Redundant", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:617028", source="DOID:0081216", source="MONDO:Redundant", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 ! TNIK relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30765 {source="MONDO:mim2gene_medgen"} ! TNIK @@ -343499,7 +343892,7 @@ xref: MEDGEN:1798944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617030 {source="MONDO:equivalentTo"} xref: Orphanet:482601 {source="MONDO:equivalentTo"} xref: UMLS:C5567521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798944"} -is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant"} ! distal myopathy +is_a: MONDO:0018949 {source="DC-OMIM:617030", source="MONDO:Redundant", source="OMIM:617030"} ! distal myopathy intersection_of: MONDO:0018949 ! distal myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 ! ADSS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20093 {source="MONDO:mim2gene_medgen"} ! ADSS1 @@ -343633,7 +344026,7 @@ xref: MEDGEN:934716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617047 {source="DOID:0110327", source="MONDO:equivalentTo"} xref: UMLS:C4310749 {source="MEDGEN:934716", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005045 {source="DC-OMIM:617047", source="DOID:0110327", source="MONDO:Redundant", source="MONDO:indirect"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDO:OMIM", source="OMIM:617047"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="DOID:0110327", source="MONDO:OMIM", source="OMIM:617047"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 ! FLNC relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3756 {source="MONDO:mim2gene_medgen"} ! FLNC @@ -343663,7 +344056,7 @@ xref: OMIM:617049 {source="MONDO:equivalentTo"} xref: Orphanet:480476 {source="MONDO:equivalentTo"} xref: UMLS:C4310747 {source="MEDGEN:934714", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001751 {source="DC-OMIM:617049", source="MONDO:Redundant", source="MONDO:indirect"} ! cholestasis -is_a: MONDO:0015762 {source="MONDO:Redundant", source="OMIM:617049", source="Orphanet:480476"} ! progressive familial intrahepatic cholestasis +is_a: MONDO:0015762 {source="DOID:0070225", source="MONDO:Redundant", source="OMIM:617049", source="Orphanet:480476"} ! progressive familial intrahepatic cholestasis intersection_of: MONDO:0015762 ! progressive familial intrahepatic cholestasis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 ! NR1H4 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7967 {source="MONDO:mim2gene_medgen"} ! NR1H4 @@ -343877,6 +344270,7 @@ xref: Orphanet:476126 {source="MONDO:equivalentTo"} xref: UMLS:C4310740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934707"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:476126", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:476126"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:617061"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070074", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -343918,7 +344312,7 @@ xref: GARD:16181 {source="MONDO:GARD"} xref: MEDGEN:934705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617063 {source="MONDO:equivalentTo"} xref: UMLS:C4310738 {source="MEDGEN:934705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016817 {source="DC-OMIM:617063", source="MONDO:Redundant", source="OMIM:617063"} ! Meier-Gorlin syndrome +is_a: MONDO:0016817 {source="DC-OMIM:617063", source="DOID:0080518", source="MONDO:Redundant", source="OMIM:617063"} ! Meier-Gorlin syndrome intersection_of: MONDO:0016817 ! Meier-Gorlin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1739 ! CDC45 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617063"} ! Autosomal recessive inheritance @@ -343946,7 +344340,7 @@ xref: MEDGEN:934704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617065 {source="MONDO:equivalentTo"} xref: UMLS:C4310737 {source="MONDO:equivalentTo", source="MEDGEN:934704", source="MONDO:MEDGEN"} is_a: MONDO:0018097 {source="Orphanet:3451/btnt", source="https://orcid.org/0000-0002-1780-5230"} ! West syndrome -is_a: MONDO:0100062 {source="DC-OMIM:617065", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617065", source="DOID:0080427", source="MONDO:Redundant", source="OMIM:617065"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 ! GUF1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25799 {source="MONDO:mim2gene_medgen"} ! GUF1 @@ -344131,7 +344525,7 @@ xref: GARD:16506 {source="MONDO:GARD"} xref: MEDGEN:934695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617080 {source="MONDO:equivalentTo"} xref: UMLS:C4310728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934695"} -is_a: MONDO:0017615 {source="DC-OMIM:617080", source="MONDO:Redundant", source="OMIM:617080"} ! benign familial infantile epilepsy +is_a: MONDO:0017615 {source="DC-OMIM:617080", source="DOID:0081118", source="MONDO:Redundant", source="OMIM:617080"} ! benign familial infantile epilepsy intersection_of: MONDO:0017615 ! benign familial infantile epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 {source="MONDO:mim2gene_medgen"} ! SCN8A @@ -344149,7 +344543,7 @@ xref: DOID:0080553 {source="MONDO:equivalentTo"} xref: MEDGEN:934694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617082 {source="MONDO:equivalentTo"} xref: UMLS:C4310727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934694"} -is_a: MONDO:0005500 {source="DC-OMIM:617082"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DC-OMIM:617082", source="DOID:0080553", source="OMIM:617082"} ! congenital disorder of glycosylation type I is_a: MONDO:0015286 {source="MONDO:Redundant", source="OMIM:617082"} ! congenital disorder of glycosylation relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21042 {source="MONDO:mim2gene_medgen"} ! NUS1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -344175,7 +344569,7 @@ xref: UMLS:C4310726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0003847 {source="MONDO:Redundant", source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0005560 {source="DC-OMIM:617086", source="MONDO:Redundant", source="MONDO:indirect"} ! brain disorder is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder -is_a: MONDO:0054865 {source="OMIM:617086", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect +is_a: MONDO:0054865 {source="OMIM:617086", source="Orphanet:485421", source="https://www.clinicalgenome.org/affiliation/40049/"} ! encephalopathy due to mitochondrial and peroxisomal fission defect is_a: MONDO:0100198 {source="https://orcid.org/0000-0001-5208-3432"} ! Mendelian encephalopathy relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:485421", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -344239,7 +344633,7 @@ xref: GARD:16186 {source="MONDO:GARD"} xref: MEDGEN:934690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617090 {source="MONDO:equivalentTo"} xref: UMLS:C4310723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934690"} -is_a: MONDO:0016660 {source="DC-OMIM:617090", source="MONDO:Redundant", source="OMIM:617090"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DC-OMIM:617090", source="DOID:0070288", source="MONDO:Redundant", source="OMIM:617090"} ! autosomal recessive primary microcephaly intersection_of: MONDO:0016660 ! autosomal recessive primary microcephaly intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 ! CIT relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1985 {source="MONDO:mim2gene_medgen"} ! CIT @@ -344601,7 +344995,7 @@ xref: MEDGEN:934677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617115 {source="MONDO:equivalentTo"} xref: UMLS:C4310710 {source="MEDGEN:934677", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017339 {source="Orphanet:289586/btnt"} ! exfoliative ichthyosis -is_a: MONDO:0019347 {source="DC-OMIM:617115", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome +is_a: MONDO:0019347 {source="DC-OMIM:617115", source="DOID:0070524", source="MONDO:Redundant", source="OMIM:617115"} ! peeling skin syndrome intersection_of: MONDO:0019347 ! peeling skin syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 ! SERPINB8 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8952 {source="MONDO:mim2gene_medgen"} ! SERPINB8 @@ -344624,7 +345018,7 @@ xref: GARD:18203 {source="MONDO:GARD"} xref: MEDGEN:934676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617116 {source="MONDO:equivalentTo"} xref: UMLS:C4310709 {source="MEDGEN:934676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020310 {source="DC-OMIM:617116", source="MONDO:Redundant", source="OMIM:617116"} ! familial focal epilepsy with variable foci +is_a: MONDO:0020310 {source="DC-OMIM:617116", source="DOID:0081422", source="MONDO:Redundant", source="OMIM:617116"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 ! NPRL2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24969 {source="MONDO:mim2gene_medgen"} ! NPRL2 @@ -344647,7 +345041,7 @@ xref: GARD:18204 {source="MONDO:GARD"} xref: MEDGEN:934675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617118 {source="MONDO:equivalentTo"} xref: UMLS:C4310708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934675"} -is_a: MONDO:0020310 {source="DC-OMIM:617118", source="MONDO:Redundant", source="OMIM:617118"} ! familial focal epilepsy with variable foci +is_a: MONDO:0020310 {source="DC-OMIM:617118", source="DOID:0081423", source="MONDO:Redundant", source="OMIM:617118"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 ! NPRL3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14124 {source="MONDO:mim2gene_medgen"} ! NPRL3 @@ -344669,7 +345063,7 @@ xref: GARD:16193 {source="MONDO:GARD"} xref: MEDGEN:1794146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617119 {source="MONDO:equivalentTo"} xref: UMLS:C5561936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794146"} -is_a: MONDO:0015229 {source="DC-OMIM:617119", source="MONDO:Redundant", source="OMIM:617119"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:617119", source="DOID:0081011", source="MONDO:Redundant", source="OMIM:617119"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21424 ! IFT74 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617119"} ! Autosomal recessive inheritance @@ -344763,7 +345157,7 @@ xref: GARD:22574 {source="MONDO:GARD"} xref: MEDGEN:934670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617125 {source="MONDO:equivalentTo"} xref: UMLS:C4310703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934670"} -is_a: MONDO:0019502 {source="DC-OMIM:617125", source="MONDO:Redundant", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:617125", source="DOID:0081217", source="MONDO:Redundant", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 ! ZC3H14 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20509 {source="MONDO:mim2gene_medgen"} ! ZC3H14 @@ -344798,7 +345192,7 @@ xref: GARD:16197 {source="MONDO:GARD"} xref: MEDGEN:934668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617127 {source="MONDO:equivalentTo"} xref: UMLS:C4310701 {source="MEDGEN:934668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015375 {source="https://orcid.org/0000-0002-6601-2165"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="OMIM:617127", source="https://orcid.org/0000-0002-6601-2165"} ! orofaciodigital syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29110 {source="MONDO:mim2gene_medgen"} ! KIAA0753 [Term] @@ -344868,7 +345262,7 @@ xref: GARD:16199 {source="MONDO:GARD"} xref: MEDGEN:934664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617137 {source="MONDO:equivalentTo"} xref: UMLS:C4310697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934664"} -is_a: MONDO:0015942 {source="DC-OMIM:617137", source="MONDO:Redundant", source="OMIM:617137"} ! frontometaphyseal dysplasia +is_a: MONDO:0015942 {source="DC-OMIM:617137", source="DOID:0111787", source="MONDO:Redundant", source="OMIM:617137"} ! frontometaphyseal dysplasia is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6859 ! MAP3K7 @@ -345048,7 +345442,7 @@ xref: MEDGEN:934657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617156 {source="MONDO:equivalentTo"} xref: UMLS:C4310690 {source="MEDGEN:934657", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004069 {source="DOID:0080337"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0018158 {source="DC-OMIM:617156", source="MONDO:Redundant", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:617156", source="DOID:0080337", source="MONDO:Redundant", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0018158 ! mitochondrial DNA depletion syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 ! TFAM relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11741 {source="MONDO:mim2gene_medgen"} ! TFAM @@ -345093,7 +345487,7 @@ xref: MEDGEN:1728314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200218 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:617158 {source="MONDO:equivalentTo"} xref: UMLS:C5399975 {source="MEDGEN:1728314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018949 ! distal myopathy +is_a: MONDO:0018949 {source="DOID:0081363"} ! distal myopathy is_a: MONDO:0800464 {source="PMID:33145792", source="https://clinicalgenome.org/affiliation/40060/"} ! SQSTM1-related multisystem proteinopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11280 {source="MONDO:mim2gene_medgen"} ! SQSTM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6882" xsd:anyURI @@ -345226,7 +345620,7 @@ xref: GARD:16208 {source="MONDO:GARD"} xref: MEDGEN:934651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617169 {source="MONDO:equivalentTo"} xref: UMLS:C4310684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934651"} -is_a: MONDO:0019502 {source="OMIM:617169"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081218", source="OMIM:617169"} ! autosomal recessive non-syndromic intellectual disability relationship: excluded_subClassOf MONDO:0019349 {source="OMIM:617169", source="https://orcid.org/0000-0001-5208-3432"} ! Sotos syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617169"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24036 {source="MONDO:mim2gene_medgen"} ! APC2 @@ -345275,6 +345669,7 @@ xref: OMIM:617173 {source="MONDO:equivalentTo", source="Orphanet:542306"} xref: Orphanet:542306 {source="MONDO:equivalentTo"} xref: UMLS:C5568877 {source="MEDGEN:1800300", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:0006025 {source="DOID:0081008"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="Orphanet:542306"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4401 {source="MONDO:mim2gene_medgen", source="Orphanet:542306"} ! GNB5 @@ -345388,7 +345783,7 @@ xref: DOID:0080130 {source="MONDO:equivalentTo"} xref: MEDGEN:934643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617184 {source="MONDO:equivalentTo"} xref: UMLS:C4310676 {source="MEDGEN:934643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018158 {source="DC-OMIM:617184", source="OMIM:617184"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DC-OMIM:617184", source="DOID:0080130", source="OMIM:617184"} ! mitochondrial DNA depletion syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10990 {source="MONDO:mim2gene_medgen"} ! SLC25A4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -345453,7 +345848,7 @@ xref: GARD:22575 {source="MONDO:GARD"} xref: MEDGEN:934640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617188 {source="MONDO:equivalentTo"} xref: UMLS:C4310673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934640"} -is_a: MONDO:0019502 {source="DC-OMIM:617188", source="MONDO:Redundant", source="OMIM:617188"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:617188", source="DOID:0081219", source="MONDO:Redundant", source="OMIM:617188"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 ! MBOAT7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15505 {source="MONDO:mim2gene_medgen"} ! MBOAT7 @@ -345522,7 +345917,7 @@ xref: GARD:16210 {source="MONDO:GARD"} xref: MEDGEN:934636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617201 {source="MONDO:equivalentTo"} xref: UMLS:C4310669 {source="MEDGEN:934636", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020341 {source="DC-OMIM:617201", source="MONDO:Redundant"} ! periventricular nodular heterotopia +is_a: MONDO:0020341 {source="DC-OMIM:617201", source="MONDO:Redundant", source="OMIM:617201"} ! periventricular nodular heterotopia intersection_of: MONDO:0020341 ! periventricular nodular heterotopia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 ! NEDD4L relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7728 {source="MONDO:mim2gene_medgen"} ! NEDD4L @@ -345601,7 +345996,7 @@ xref: DOID:0070174 {source="MONDO:equivalentTo"} xref: MEDGEN:934633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617214 {source="MONDO:equivalentTo"} xref: UMLS:C4310666 {source="MEDGEN:934633", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="DC-OMIM:617214", source="MONDO:Redundant", source="OMIM:617214"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DC-OMIM:617214", source="DOID:0070174", source="MONDO:Redundant", source="OMIM:617214"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19218 ! PLCZ1 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19218 ! PLCZ1 @@ -345690,6 +346085,7 @@ xref: MEDGEN:1799316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617225 {source="Orphanet:513436", source="MONDO:equivalentTo"} xref: Orphanet:513436 {source="MONDO:equivalentTo"} xref: UMLS:C5567893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799316"} +is_a: MONDO:0006025 {source="DOID:0112348"} ! autosomal recessive disease is_a: MONDO:0015150 {source="https://orcid.org/0000-0002-5002-8648"} ! complex hereditary spastic paraplegia is_a: MONDO:0019064 {source="DC-OMIM:617225", source="MONDO:Redundant", source="OMIM:617225"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia @@ -345718,7 +346114,7 @@ xref: MEDGEN:934628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617228 {source="Orphanet:478049", source="MONDO:equivalentTo"} xref: Orphanet:478049 {source="MONDO:equivalentTo"} xref: UMLS:C4310661 {source="MEDGEN:934628", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="DC-OMIM:617228", source="MONDO:Redundant", source="OMIM:617228"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DC-OMIM:617228", source="DOID:0111488", source="MONDO:Redundant", source="OMIM:617228"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0005267 {source="MONDO:Redundant", source="Orphanet:478049"} ! heart disorder is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder intersection_of: MONDO:0000732 {source="MONDO:mim2gene_medgen"} ! combined oxidative phosphorylation deficiency @@ -345750,7 +346146,7 @@ xref: NCIT:C142082 {source="MONDO:equivalentTo"} xref: OMIM:617232 {source="MONDO:equivalentTo"} xref: Orphanet:480682 {source="MONDO:equivalentTo"} xref: UMLS:C4310660 {source="MONDO:equivalentTo", source="MEDGEN:934627", source="MONDO:MEDGEN"} -is_a: MONDO:0015152 {source="MONDO:Redundant", source="OMIM:617232", source="Orphanet:480682"} ! autosomal recessive limb-girdle muscular dystrophy +is_a: MONDO:0015152 {source="DOID:0080762", source="MONDO:Redundant", source="OMIM:617232", source="Orphanet:480682"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016971 {source="DC-OMIM:617232", source="MONDO:Redundant", source="NCIT:C142082", source="Orphanet:480682/inferred"} ! limb-girdle muscular dystrophy is_a: MONDO:0017741 {source="PMID:33340416", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of protein O-glycosylation intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy @@ -346057,7 +346453,7 @@ xref: DOID:0112233 {source="MONDO:equivalentTo"} xref: MEDGEN:934613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617255 {source="MONDO:equivalentTo"} xref: UMLS:C4310646 {source="MEDGEN:934613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018838 {source="DC-OMIM:617255", source="MONDO:Redundant", source="OMIM:617255"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DC-OMIM:617255", source="DOID:0112233", source="MONDO:Redundant", source="OMIM:617255"} ! lissencephaly spectrum disorders intersection_of: MONDO:0018838 ! lissencephaly spectrum disorders intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 ! TMTC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26899 {source="MONDO:mim2gene_medgen"} ! TMTC3 @@ -346080,7 +346476,7 @@ xref: DOID:0080308 {source="MONDO:equivalentTo"} xref: MEDGEN:934612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617258 {source="MONDO:equivalentTo", source="DOID:0080308"} xref: UMLS:C4310645 {source="MEDGEN:934612", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018943 {source="MONDO:Redundant", source="OMIM:617258"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0080308", source="MONDO:Redundant", source="OMIM:617258"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 ! PYROXD1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26162 {source="MONDO:mim2gene_medgen"} ! PYROXD1 @@ -346136,7 +346532,7 @@ xref: GARD:13361 {source="MONDO:GARD"} xref: MEDGEN:934608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617270 {source="MONDO:equivalentTo"} xref: UMLS:C4310641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934608"} -is_a: MONDO:0019502 {source="DC-OMIM:617270", source="MONDO:Redundant", source="OMIM:617270"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:617270", source="DOID:0081220", source="MONDO:Redundant", source="OMIM:617270"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 ! ELP2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18248 {source="MONDO:mim2gene_medgen"} ! ELP2 @@ -346225,7 +346621,7 @@ xref: GARD:16218 {source="MONDO:GARD"} xref: MEDGEN:934604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617276 {source="MONDO:equivalentTo"} xref: UMLS:C4310637 {source="MEDGEN:934604", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:617276", source="MONDO:Redundant", source="OMIM:617276"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617276", source="DOID:0080448", source="MONDO:Redundant", source="OMIM:617276"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 ! AP3B2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/567 {source="MONDO:mim2gene_medgen"} ! AP3B2 @@ -346271,7 +346667,7 @@ xref: DOID:0080441 {source="MONDO:equivalentTo"} xref: MEDGEN:934602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617281 {source="MONDO:equivalentTo"} xref: UMLS:C4310635 {source="MEDGEN:934602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:617281", source="MONDO:Redundant", source="OMIM:617281"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617281", source="DOID:0080441", source="MONDO:Redundant", source="OMIM:617281"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 ! DENND5A relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19344 {source="MONDO:mim2gene_medgen"} ! DENND5A @@ -346343,7 +346739,7 @@ xref: DOID:0080769 {source="MONDO:equivalentTo"} xref: MEDGEN:934599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617290 {source="MONDO:equivalentTo"} xref: UMLS:C4310632 {source="MEDGEN:934599", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009945 ! pyridoxine-dependent epilepsy +is_a: MONDO:0009945 {source="DOID:0080769"} ! pyridoxine-dependent epilepsy is_a: MONDO:0957599 {source="OMIM:617290"} ! epilepsy, early-onset relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9457 {source="MONDO:mim2gene_medgen"} ! PLPBP @@ -346368,7 +346764,7 @@ xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"} xref: Orphanet:508529 {source="MONDO:equivalentTo"} xref: UMLS:C4310631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934598"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0017610 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex +is_a: MONDO:0017610 {source="OMIM:617294", source="https://orcid.org/0000-0001-5208-3432"} ! epidermolysis bullosa simplex intersection_of: MONDO:0017610 ! epidermolysis bullosa simplex intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/25947 ! KLHL24 relationship: has_characteristic HP:0000006 {source="Orphanet:508529"} ! Autosomal dominant inheritance @@ -346594,7 +346990,7 @@ xref: DOID:0080611 {source="MONDO:equivalentTo"} xref: MEDGEN:934590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617315 {source="MONDO:equivalentTo"} xref: UMLS:C4310623 {source="MEDGEN:934590", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019503 {source="DC-OMIM:617315", source="OMIM:617315"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:617315", source="DOID:0080611", source="OMIM:617315"} ! anterior segment dysgenesis is_a: MONDO:0800472 {source="PMID:23767995", source="PMID:24099281", source="PMID:9097971", source="https://clinicalgenome.org/affiliation/40077/"} ! CYP1B1-related glaucoma with or without anterior segment dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2597 {source="MONDO:mim2gene_medgen"} ! CYP1B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -346622,7 +347018,7 @@ xref: MEDGEN:934589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617319 {source="MONDO:equivalentTo"} xref: Orphanet:519388 {source="MONDO:equivalentTo"} xref: UMLS:C4310622 {source="MEDGEN:934589", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019503 {source="DC-OMIM:617319", source="MONDO:Redundant", source="OMIM:617319"} ! anterior segment dysgenesis +is_a: MONDO:0019503 {source="DC-OMIM:617319", source="DOID:0080613", source="MONDO:Redundant", source="OMIM:617319"} ! anterior segment dysgenesis intersection_of: MONDO:0019503 ! anterior segment dysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 ! CPAMD8 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23228 {source="MONDO:mim2gene_medgen"} ! CPAMD8 @@ -346683,7 +347079,7 @@ xref: DOID:0081221 {source="MONDO:equivalentTo"} xref: MEDGEN:934586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617323 {source="MONDO:equivalentTo"} xref: UMLS:C4310619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934586"} -is_a: MONDO:0019502 {source="DC-OMIM:617323", source="MONDO:Redundant", source="OMIM:617323"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DC-OMIM:617323", source="DOID:0081221", source="MONDO:Redundant", source="OMIM:617323"} ! autosomal recessive non-syndromic intellectual disability intersection_of: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 ! IMPA1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6050 {source="MONDO:mim2gene_medgen"} ! IMPA1 @@ -346788,7 +347184,7 @@ xref: DOID:0080433 {source="MONDO:equivalentTo"} xref: MEDGEN:1372686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617339 {source="MONDO:equivalentTo"} xref: UMLS:C4479208 {source="MEDGEN:1372686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="DC-OMIM:617339", source="MONDO:Redundant", source="OMIM:617339"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DC-OMIM:617339", source="DOID:0080433", source="MONDO:Redundant", source="OMIM:617339"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 ! MDH2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6971 {source="MONDO:mim2gene_medgen"} ! MDH2 @@ -346916,7 +347312,7 @@ xref: NCIT:C6912 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO: xref: Orphanet:100002 {source="MONDO:equivalentTo"} xref: SCTID:768926005 {source="MONDO:equivalentTo"} xref: UMLS:C4708595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643216"} -is_a: MONDO:0019404 {source="Orphanet:100002"} ! perineurioma +is_a: MONDO:0019404 {source="NCIT:C6912", source="Orphanet:100002"} ! perineurioma [Term] id: MONDO:0015032 @@ -347596,6 +347992,7 @@ xref: MEDGEN:1619460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C135090 {source="MONDO:equivalentTo"} xref: Orphanet:100077 {source="MONDO:equivalentTo"} xref: UMLS:C4525626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1619460"} +is_a: MONDO:0002564 {source="NCIT:C135090"} ! jejunal neoplasm is_a: MONDO:0002995 {source="MONDO:Redundant", source="NCIT:C135090"} ! small intestine neuroendocrine tumor, well differentiated, low or intermediate grade is_a: MONDO:0018510 {source="MONDO:Redundant", source="NCIT:C135090/inferred", source="Orphanet:100077"} ! small intestine neuroendocrine neoplasm is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100077", source="Orphanet:100077/inferred"} ! digestive system neuroendocrine neoplasm @@ -347745,6 +348142,7 @@ xref: NCIT:C96540 {source="MONDO:equivalentTo"} xref: Orphanet:100082 {source="MONDO:equivalentTo"} xref: UMLS:C3272849 {source="MEDGEN:474482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000386 {source="NCIT:C96540"} ! digestive system neuroendocrine tumor, grade 1/2 +is_a: MONDO:0003504 {source="NCIT:C96540"} ! anal canal neuroendocrine neoplasm is_a: MONDO:0018516 {source="Orphanet:100082"} ! epithelial tumor of anal canal is_a: MONDO:0024503 {source="MONDO:Redundant", source="Orphanet:100082", source="Orphanet:100082/inferred"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm @@ -347839,6 +348237,7 @@ xref: NCIT:C96787 {source="MONDO:equivalentTo"} xref: Orphanet:100085 {source="MONDO:equivalentTo"} xref: SCTID:716652006 {source="MONDO:equivalentTo"} xref: UMLS:C3273031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474664"} +is_a: MONDO:0018531 {source="NCIT:C96787"} ! carcinoma of liver and intrahepatic biliary tract is_a: MONDO:0024477 {source="MONDO:0018530-obsoleted"} ! liver and intrahepatic bile duct neoplasm intersection_of: MONDO:0002120 ! neuroendocrine carcinoma intersection_of: disease_has_location UBERON:0002107 ! liver @@ -349163,7 +349562,7 @@ xref: icd11.foundation:1533765623 {source="MONDO:equivalentTo"} xref: MEDGEN:369910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:102011 {source="MONDO:equivalentTo"} xref: UMLS:C1969029 {source="MEDGEN:369910", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018838 {source="Orphanet:102011"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DOID:0112232", source="Orphanet:102011"} ! lissencephaly spectrum disorders [Term] id: MONDO:0015149 @@ -349241,6 +349640,7 @@ xref: OMIMPS:159000 {source="DOID:0110273", source="MONDO:nonExistent"} xref: OMIMPS:603511 {source="MONDO:equivalentTo"} xref: Orphanet:102014 {source="MONDO:equivalentTo", source="DOID:0110273"} xref: UMLS:C5675009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826162"} +is_a: MONDO:0000426 {source="DOID:0110273"} ! autosomal dominant disease is_a: MONDO:0016971 {source="DOID:0110273", source="MONDO:Redundant", source="Orphanet:102014"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0016971 ! limb-girdle muscular dystrophy intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -349268,6 +349668,7 @@ xref: MESH:C538640 {source="MONDO:equivalentTo"} xref: OMIMPS:253600 {source="MONDO:equivalentTo", source="DOID:0110274"} xref: Orphanet:102015 {source="MONDO:equivalentTo", source="DOID:0110274"} xref: UMLS:C2931907 {source="MEDGEN:419194", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0110274"} ! autosomal recessive disease is_a: MONDO:0016971 {source="DOID:0110274", source="MESH:C538640", source="MONDO:Redundant", source="Orphanet:102015"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0016971 ! limb-girdle muscular dystrophy intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -349835,7 +350236,7 @@ xref: SCTID:204768009 {source="DOID:10605"} xref: SCTID:235724004 {source="DOID:10605"} xref: SCTID:26629001 {source="DOID:10605", source="MONDO:equivalentTo"} xref: UMLS:C0036992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19966"} -is_a: MONDO:0005020 {source="Orphanet:104008"} ! intestinal disorder +is_a: MONDO:0005020 {source="DOID:10605", source="Orphanet:104008"} ! intestinal disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0015245"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome" xsd:anyURI {source="GARD:0001502"} @@ -350273,7 +350674,7 @@ xref: icd11.foundation:169315445 {source="MONDO:equivalentTo"} xref: MEDGEN:365439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:1083 {source="MONDO:equivalentTo"} xref: UMLS:C1956147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:365439"} -is_a: MONDO:0018838 {source="Orphanet:1083"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DOID:0112234", source="Orphanet:1083"} ! lissencephaly spectrum disorders [Term] id: MONDO:0015205 @@ -350674,7 +351075,7 @@ xref: OMIMPS:209900 {source="MONDO:equivalentTo", source="DOID:1935"} xref: Orphanet:110 {source="MONDO:equivalentTo", source="DOID:1935"} xref: SCTID:5619004 {source="MONDO:equivalentTo", source="DOID:1935"} xref: UMLS:C0752166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156019"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118632"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1935", source="MONDO:Redundant", source="NCIT:C118632"} ! syndromic disease is_a: MONDO:0005308 ! ciliopathy is_a: MONDO:0006025 {source="DOID:1935", source="MONDO:Redundant"} ! autosomal recessive disease relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:110", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -350962,7 +351363,7 @@ xref: icd11.foundation:1679749810 {source="MONDO:equivalentTo"} xref: MESH:C565097 {source="MONDO:equivalentTo"} xref: Orphanet:1146 {source="GARD:0000787", source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:1146"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability -is_a: MONDO:0019942 {source="Orphanet:1146"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DOID:0111596", source="Orphanet:1146"} ! distal arthrogryposis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1" xsd:anyURI {source="GARD:0000787"} [Term] @@ -351028,7 +351429,7 @@ xref: OMIM:103920 {source="Orphanet:1164", source="Orphanet:1164/btnt", source=" xref: Orphanet:1164 {source="MONDO:equivalentTo", source="OMIM:103920"} xref: SCTID:37981002 {source="MONDO:equivalentTo", source="DOID:13166"} xref: UMLS:C3278302 {source="MEDGEN:479932", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000771 {source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease +is_a: MONDO:0000771 {source="DOID:13166", source="MONDO:Redundant", source="Orphanet:1164"} ! allergic respiratory disease is_a: MONDO:0005087 {source="Orphanet:1164"} ! respiratory system disorder is_a: MONDO:0005657 {source="DOID:13166", source="EFO:0007140", source="ICD10CM:B44.81", source="ICD10CM:B44.81/inferred", source="MESH:D001229", source="MONDO:Redundant", source="NCIT:C84547"} ! aspergillosis intersection_of: MONDO:0005657 ! aspergillosis @@ -351056,6 +351457,7 @@ xref: MEDGEN:1843058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:213200 {source="MONDO:equivalentTo"} xref: Orphanet:1172 {source="MONDO:equivalentTo"} xref: UMLS:C5575375 {source="MONDO:equivalentTo", source="MEDGEN:1843058", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0050950"} ! autosomal recessive disease is_a: MONDO:0100310 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary cerebellar ataxia intersection_of: MONDO:0100310 ! hereditary cerebellar ataxia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -351289,7 +351691,7 @@ xref: SCTID:191239005 {source="DOID:1339"} xref: SCTID:234371002 {source="DOID:1339"} xref: SCTID:88854002 {source="MONDO:equivalentTo", source="DOID:1339"} xref: UMLS:C1260899 {source="MEDGEN:266045", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001705 {source="MESH:D029503", source="NCIT:C61236"} ! pure red-cell aplasia +is_a: MONDO:0001705 {source="DOID:1339", source="MESH:D029503", source="NCIT:C61236"} ! pure red-cell aplasia is_a: MONDO:0001713 {source="DOID:1339", source="MESH:D029503", source="Orphanet:124"} ! inherited aplastic anemia relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:124", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate relationship: excluded_subClassOf MONDO:0015945 {source="Orphanet:124", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete polymalformative genetic syndrome with increased risk of developing cancer @@ -351678,7 +352080,7 @@ xref: OMIMPS:164280 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:1305 {source="DOID:0060464", source="MONDO:equivalentTo"} xref: UMLS:C0796068 {source="MEDGEN:163209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0060464", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74987"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060464", source="MONDO:Redundant", source="NCIT:C74987"} ! syndromic disease relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:1305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic respiratory or mediastinal malformation relationship: has_characteristic HP:0000006 {source="Orphanet:1305"} ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:164280"} ! inherited @@ -352315,6 +352717,7 @@ xref: MEDGEN:1660649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:137593 {source="MONDO:equivalentTo"} xref: UMLS:C4749790 {source="MEDGEN:1660649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0020950 {source="https://orcid.org/0000-0002-6601-2165"} ! viral eye infection +is_a: MONDO:0023865 {source="Orphanet:137593"} ! corneal infection intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0001772 ! corneal epithelium relationship: disease_has_inflammation_site UBERON:0001772 ! corneal epithelium @@ -353228,7 +353631,7 @@ xref: OMIM:300100 {source="Orphanet:139399/ntbt", source="MONDO:includedEntryInO xref: Orphanet:139399 {source="MONDO:equivalentTo"} xref: SCTID:65389002 {source="MONDO:equivalentTo"} xref: UMLS:C1527231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:315918"} -is_a: MONDO:0018544 {source="https://www.clinicalgenome.org/affiliation/40049/"} ! adrenoleukodystrophy +is_a: MONDO:0018544 {source="Orphanet:139399", source="https://www.clinicalgenome.org/affiliation/40049/"} ! adrenoleukodystrophy is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted"} ! hereditary peripheral neuropathy relationship: excluded_subClassOf MONDO:0010247 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked cerebral adrenoleukodystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2632" xsd:anyURI @@ -353527,7 +353930,7 @@ xref: MEDGEN:777992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C580044 {source="MONDO:equivalentTo"} xref: Orphanet:139525 {source="MONDO:equivalentTo"} xref: UMLS:C3711384 {source="MEDGEN:777992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015362 {source="Orphanet:139525"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111206", source="Orphanet:139525"} ! neuronopathy, distal hereditary motor, autosomal dominant [Term] id: MONDO:0015353 @@ -353602,7 +354005,7 @@ xref: icd11.foundation:80361835 {source="MONDO:equivalentTo"} xref: MEDGEN:1662655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:139589 {source="MONDO:equivalentTo"} xref: UMLS:C4749653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1662655"} -is_a: MONDO:0015362 {source="Orphanet:139589"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111199", source="Orphanet:139589"} ! neuronopathy, distal hereditary motor, autosomal dominant [Term] id: MONDO:0015356 @@ -353781,6 +354184,7 @@ xref: MEDGEN:1779821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:604320 {source="MONDO:equivalentTo"} xref: Orphanet:140468 {source="MONDO:equivalentTo"} xref: UMLS:C5548369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779821"} +is_a: MONDO:0006025 {source="DOID:0111197"} ! autosomal recessive disease is_a: MONDO:0018894 {source="MONDO:Redundant", source="Orphanet:140468", source="https://orcid.org/0000-0001-5208-3432"} ! distal hereditary motor neuropathy intersection_of: MONDO:0018894 ! distal hereditary motor neuropathy intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -354647,7 +355051,7 @@ xref: NCIT:C172208 {source="MONDO:equivalentTo"} xref: Orphanet:141179 {source="GARD:0010890", source="MONDO:equivalentTo"} xref: SCTID:703295003 {source="MONDO:equivalentTo"} xref: UMLS:C1275417 {source="MEDGEN:698685", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018715 {source="Orphanet:141179"} ! congenital hemangioma +is_a: MONDO:0018715 {source="NCIT:C172208", source="Orphanet:141179"} ! congenital hemangioma relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma" xsd:anyURI {source="GARD:0010890"} @@ -354670,7 +355074,7 @@ xref: NCIT:C172207 {source="MONDO:equivalentTo"} xref: Orphanet:141184 {source="MONDO:equivalentTo"} xref: SCTID:703294004 {source="MONDO:equivalentTo"} xref: UMLS:C1275421 {source="MEDGEN:698687", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018715 {source="Orphanet:141184"} ! congenital hemangioma +is_a: MONDO:0018715 {source="NCIT:C172207", source="Orphanet:141184"} ! congenital hemangioma relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -355834,7 +356238,7 @@ xref: SCTID:231906002 {source="DOID:0060216"} xref: SCTID:26018001 {source="DOID:0060216"} xref: SCTID:405810005 {source="MONDO:equivalentTo", source="DOID:0060216"} xref: UMLS:C0271270 {source="MEDGEN:82871", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005328 {source="MONDO:0015937-obsoleted"} ! eye disorder +is_a: MONDO:0005328 {source="DOID:0060216", source="MONDO:0015937-obsoleted"} ! eye disorder is_a: MONDO:0007179 {source="Orphanet:1467"} ! autoimmune disease is_a: MONDO:0024623 {source="Orphanet:1467"} ! otorhinolaryngologic disease relationship: has_characteristic MONDO:0021136 {source="MONDO:0020017"} ! rare @@ -357304,7 +357708,7 @@ xref: Orphanet:157791 {source="MONDO:equivalentTo"} xref: SCTID:403981003 {source="MONDO:relatedTo"} xref: SCTID:54124005 {source="MONDO:equivalentTo"} xref: UMLS:C0334538 {source="MEDGEN:569676", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800"} ! vascular cancer +is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800", source="Orphanet:157791"} ! vascular cancer is_a: MONDO:0021121 {source="MESH:D018323", source="NCIT:C3800"} ! hemangioendothelioma is_a: MONDO:0024296 {source="Orphanet:157791"} ! vascular neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0016228"} ! rare @@ -358641,7 +359045,7 @@ xref: MESH:D020363 {source="Orphanet:163892", source="MONDO:equivalentTo", sourc xref: Orphanet:163892 {source="MONDO:equivalentObsolete"} xref: SCTID:230192003 {source="MONDO:equivalentTo"} xref: UMLS:C0338430 {source="MEDGEN:137895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019956 {source="MESH:D020363", source="Orphanet:163892"} ! encephalitis +is_a: MONDO:0019956 {source="DOID:0080741", source="MESH:D020363", source="Orphanet:163892"} ! encephalitis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis" xsd:anyURI {source="GARD:0008742"} [Term] @@ -358870,7 +359274,7 @@ xref: Orphanet:163976 {source="OMIM:301030", source="MONDO:equivalentTo"} xref: SCTID:718914002 {source="MONDO:equivalentTo"} xref: UMLS:C4305072 {source="MEDGEN:930741", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:301030"} ! disease -is_a: MONDO:0020119 {source="OMIM:301030", source="Orphanet:163976", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0111840", source="OMIM:301030", source="Orphanet:163976", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015906"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -359410,7 +359814,7 @@ xref: NANDO:2201016 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: Orphanet:166002 {source="MONDO:equivalentTo"} xref: SCTID:766717008 {source="MONDO:equivalentTo"} xref: UMLS:C4707798 {source="MONDO:equivalentTo", source="MEDGEN:1647610", source="MONDO:MEDGEN"} -is_a: MONDO:0016648 {source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia +is_a: MONDO:0016648 {source="DOID:0070305", source="MONDO:Redundant", source="Orphanet:166002"} ! multiple epiphyseal dysplasia intersection_of: MONDO:0016648 ! multiple epiphyseal dysplasia intersection_of: disease_has_basis_in_dysfunction_of GO:0005594 ! collagen type IX trimer @@ -360531,7 +360935,7 @@ xref: ONCOTREE:CELNOS {source="MONDO:equivalentTo"} xref: Orphanet:168940 {source="MONDO:equivalentTo"} xref: SCTID:188733003 {source="MONDO:equivalentTo"} xref: UMLS:C0346421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91106"} -is_a: MONDO:0001014 {source="NCIT:C4563"} ! chronic leukemia +is_a: MONDO:0001014 {source="DOID:0080367", source="NCIT:C4563"} ! chronic leukemia is_a: MONDO:0005059 {source="EFO:1000178", source="MONDO:Redundant", source="NCIT:C4563/inferred"} ! leukemia is_a: MONDO:0005170 {source="EFO:1000178", source="MONDO:Redundant", source="NCIT:C4563/inferred", source="ONCOTREE:CELNOS/inferred"} ! myeloid neoplasm is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C4563", source="ONCOTREE:CELNOS", source="Orphanet:168940"} ! myeloproliferative neoplasm @@ -360949,7 +361353,7 @@ xref: MEDGEN:771131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:169186 {source="MONDO:equivalentTo"} xref: SCTID:240081004 {source="MONDO:equivalentTo"} xref: UMLS:C3645536 {source="MEDGEN:771131", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018947 {source="MONDO:Redundant", source="Orphanet:169186"} ! centronuclear myopathy +is_a: MONDO:0018947 {source="DOID:0111216", source="MONDO:Redundant", source="Orphanet:169186"} ! centronuclear myopathy is_a: MONDO:0100175 {source="https://clinicalgenome.org/affiliation/40031/"} ! TTN-related myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -362096,7 +362500,7 @@ xref: NCIT:C3466 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:171918 {source="MONDO:equivalentTo"} xref: SCTID:109978004 {source="MONDO:equivalentTo"} xref: UMLS:C0079772 {source="MONDO:equivalentTo", source="MEDGEN:86957", source="MONDO:MEDGEN"} -is_a: MONDO:0018908 {source="MESH:D016399", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma +is_a: MONDO:0018908 {source="DOID:0081312", source="MESH:D016399", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma relationship: disease_arises_from_structure CL:0000084 ! T cell [Term] @@ -364284,7 +364688,7 @@ xref: NCIT:C3917 {source="MONDO:equivalentTo"} xref: Orphanet:180247 {source="MONDO:equivalentTo"} xref: UMLS:C0262659 {source="MEDGEN:82653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0001402 {source="DOID:0050918", source="MONDO:Redundant", source="NCIT:C3917"} ! vaginal cancer -is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C3917"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:0050918", source="MONDO:Redundant", source="NCIT:C3917"} ! carcinoma is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -365164,7 +365568,7 @@ xref: SCTID:234485006 {source="MONDO:equivalentTo"} xref: SCTID:236422008 {source="MONDO:equivalentTo"} xref: SCTID:712922002 {source="MONDO:equivalentTo"} xref: UMLS:C5200934 {source="MEDGEN:1704278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000009 {source="DC-OMIM:155100", source="MONDO:Redundant", source="OMIM:155100"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:155100", source="DOID:0060651", source="MONDO:Redundant", source="OMIM:155100"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0002245 {source="DOID:0060651", source="MONDO:Redundant"} ! blood platelet disease is_a: MONDO:0002254 {source="NCIT:C131639", source="NCIT:C131642", source="NCIT:C131646", source="NCIT:C131650"} ! syndromic disease is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia @@ -365402,7 +365806,7 @@ xref: SCTID:266401007 {source="DOID:10316"} xref: SCTID:40122008 {source="DOID:10316", source="MONDO:equivalentTo"} xref: UMLS:C0032273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:19360"} is_a: MONDO:0005087 {source="https://orcid.org/0000-0001-9310-0163"} ! respiratory system disorder -is_a: MONDO:0015925 {source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease +is_a: MONDO:0015925 {source="DOID:10316", source="https://orcid.org/0000-0002-3458-4839"} ! interstitial lung disease relationship: disease_has_feature HP:0006530 ! Abnormal pulmonary interstitial morphology property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6754" xsd:anyURI @@ -365651,7 +366055,7 @@ xref: OMIMPS:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="OMIM:305620", source="MONDO:equivalentTo"} xref: SCTID:62803002 {source="MONDO:equivalentTo"} xref: UMLS:C0265293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82703"} -is_a: MONDO:0018233 {source="Orphanet:1826"} ! otopalatodigital syndrome spectrum disorder +is_a: MONDO:0018233 {source="DOID:0111785", source="Orphanet:1826"} ! otopalatodigital syndrome spectrum disorder relationship: excluded_subClassOf MONDO:0015160 {source="Orphanet:1826", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:1826", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability relationship: has_characteristic MONDO:0021152 {source="OMIMPS:305620"} ! inherited @@ -366775,8 +367179,8 @@ xref: UMLS:C0268342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002254 {source="MONDO:0016002/inferred", source="MONDO:Redundant", source="NCIT:C125700/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease is_a: MONDO:0003900 ! connective tissue disorder is_a: MONDO:0005328 ! eye disorder -is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease -is_a: MONDO:0020066 {source="DC-OMIM:225400", source="MESH:C536198", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900"} ! Ehlers-Danlos syndrome +is_a: MONDO:0006025 {source="DOID:0080734", source="MONDO:Redundant"} ! autosomal recessive disease +is_a: MONDO:0020066 {source="DC-OMIM:225400", source="DOID:0080734", source="MESH:C536198", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900"} ! Ehlers-Danlos syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:225400", source="Orphanet:1900"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9081 {source="MONDO:mim2gene_medgen"} ! PLOD1 @@ -366897,6 +367301,7 @@ xref: Orphanet:90324 {source="DOID:2962"} xref: SCTID:205832003 {source="DOID:2962"} xref: SCTID:21086008 {source="MONDO:equivalentTo", source="DOID:2962"} xref: UMLS:C0009207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40363"} +is_a: MONDO:0006025 {source="DOID:2962"} ! autosomal recessive disease is_a: MONDO:0015333 {source="Orphanet:191", source="https://orcid.org/0000-0002-0736-9199", source="https://orcid.org/0000-0002-1780-5230"} ! progeroid syndrome relationship: disease_has_basis_in_disruption_of GO:0006289 {source="https://orcid.org/0000-0002-6601-2165"} ! nucleotide-excision repair relationship: disease_has_feature HP:0000992 ! Cutaneous photosensitivity @@ -367635,7 +368040,7 @@ xref: OMIMPS:122470 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:199 {source="DOID:11725", source="MONDO:equivalentTo"} xref: SCTID:40354009 {source="DOID:11725"} xref: UMLS:C0270972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78752"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75016"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:11725", source="MONDO:Redundant", source="NCIT:C75016"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015159 {source="Orphanet:199"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0019054 {source="PMID:20301283"} ! congenital limb malformation @@ -367915,7 +368320,7 @@ xref: Orphanet:199306 {source="MONDO:equivalentTo"} xref: SCTID:66948001 {source="MONDO:equivalentTo"} xref: UMLS:C0158646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57640"} is_a: MONDO:0000358 {source="PMID:33705067", source="https://orcid.org/0009-0001-6494-4831"} ! orofacial cleft -is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis +is_a: MONDO:0021147 {source="ICD10CM:Q35-Q37", source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6751" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI @@ -368562,7 +368967,7 @@ xref: MEDGEN:1826052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:309800 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:202948 {source="MONDO:equivalentTo"} xref: UMLS:C5679782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826052"} -is_a: MONDO:0021129 {source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia +is_a: MONDO:0021129 {source="DOID:0080636", source="MONDO:Redundant", source="https://orcid.org/0000-0002-6601-2165"} ! microphthalmia intersection_of: MONDO:0021129 ! microphthalmia intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation relationship: has_characteristic MONDO:0021152 {source="OMIMPS:309800"} ! inherited @@ -368822,7 +369227,7 @@ xref: SCTID:203393002 {source="DOID:11760"} xref: SCTID:203397001 {source="DOID:11760"} xref: SCTID:32491009 {source="DOID:11760"} xref: UMLS:C0158444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:510539"} -is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054"} ! osteochondrosis +is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054", source="Orphanet:563991"} ! osteochondrosis relationship: disease_has_feature HP:0010885 ! Avascular necrosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6842/kohler-disease" xsd:anyURI {source="GARD:0006842"} @@ -369052,6 +369457,7 @@ xref: NCIT:C128080 {source="MONDO:equivalentTo"} xref: Orphanet:206492 {source="MONDO:equivalentTo"} xref: SCTID:766759009 {source="MONDO:equivalentTo"} xref: UMLS:C4288035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:925567"} +is_a: MONDO:0002140 {source="NCIT:C128080"} ! vagina sarcoma is_a: MONDO:0005212 {source="MONDO:Redundant", source="NCIT:C128080"} ! rhabdomyosarcoma is_a: MONDO:0021148 {source="MONDO:0015876-obsoleted"} ! female reproductive system neoplasm intersection_of: MONDO:0005212 ! rhabdomyosarcoma @@ -370159,7 +370565,7 @@ xref: SCTID:60380001 {source="DOID:8986", source="EFO:0000614"} xref: UMLS:C0751362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:199638"} is_a: MONDO:0003406 {source="EFO:0000614", source="ICD10CM:G47.4", source="MONDO:Redundant", source="Orphanet:2073"} ! sleep-wake disorder is_a: MONDO:0005560 {source="EFO:0000614/inferred"} ! brain disorder -is_a: MONDO:0021107 {source="https://orcid.org/0000-0002-6601-2165"} ! narcolepsy +is_a: MONDO:0021107 {source="Orphanet:2073", source="https://orcid.org/0000-0002-6601-2165"} ! narcolepsy disjoint_from: MONDO:0019371 ! narcolepsy without cataplexy relationship: disease_has_feature HP:0002524 ! Cataplexy relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare @@ -370279,7 +370685,7 @@ xref: Orphanet:208508 {source="MONDO:equivalentTo", source="MONDO:preferredExter xref: Orphanet:94147 {source="MONDO:equivalentTo", source="OMIM:164500"} xref: SCTID:715726000 {source="MONDO:equivalentTo"} xref: UMLS:C0752125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:156006"} -is_a: MONDO:0020380 {source="Orphanet:208508"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0050958", source="OMIM:164500", source="Orphanet:208508"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 ! ATXN7 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10560 {source="MONDO:mim2gene_medgen"} ! ATXN7 @@ -371201,7 +371607,7 @@ xref: MEDGEN:124633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7956 {source="MONDO:equivalentTo"} xref: Orphanet:210159 {source="MONDO:equivalentTo"} xref: UMLS:C0279607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124633"} -is_a: MONDO:0007256 {source="MONDO:Redundant", source="NCIT:C7956", source="Orphanet:210159"} ! hepatocellular carcinoma +is_a: MONDO:0007256 {source="DOID:0070328", source="MONDO:Redundant", source="NCIT:C7956", source="Orphanet:210159"} ! hepatocellular carcinoma intersection_of: MONDO:0007256 ! hepatocellular carcinoma intersection_of: has_characteristic HP:0003581 ! Adult onset @@ -371867,6 +372273,7 @@ is_a: MONDO:0001549 {source="MESH:D065766"} ! hemolytic-uremic syndrome is_a: MONDO:0002254 {source="NCIT:C123223"} ! syndromic disease is_a: MONDO:0003832 {source="DOID:0080301"} ! complement deficiency is_a: MONDO:0019737 {source="MESH:D065766/inferred", source="Orphanet:2134"} ! thrombotic microangiopathy +is_a: MONDO:0957097 {source="Orphanet:2134"} ! hereditary hemolytic uremic syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0003664 {source="Orphanet:2134", source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia relationship: excluded_subClassOf MONDO:0005240 {source="Orphanet:2134", source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder @@ -372253,7 +372660,7 @@ xref: ONCOTREE:ULMS {source="MONDO:equivalentTo"} xref: Orphanet:213625 {source="MONDO:equivalentTo"} xref: SCTID:447389009 {source="DOID:5289", source="MONDO:equivalentTo"} xref: UMLS:C0280631 {source="MONDO:equivalentTo", source="MEDGEN:83679", source="MONDO:MEDGEN"} -is_a: MONDO:0005058 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340", source="NCIT:C6340/inferred"} ! leiomyosarcoma is_a: MONDO:0005210 {source="DOID:5289", source="MONDO:Redundant", source="NCIT:C6340", source="ONCOTREE:ULMS/inferred", source="Orphanet:213625"} ! uterine corpus sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -372717,7 +373124,7 @@ xref: ONCOTREE:CELI {source="MONDO:equivalentTo"} xref: Orphanet:213807 {source="MONDO:equivalentTo"} xref: SCTID:763771009 {source="MONDO:equivalentTo"} xref: UMLS:C4289817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927349"} -is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C128047/inferred"} ! leiomyosarcoma +is_a: MONDO:0005058 {source="MONDO:Redundant", source="NCIT:C128047", source="NCIT:C128047/inferred"} ! leiomyosarcoma is_a: MONDO:0016280 {source="MONDO:Redundant", source="Orphanet:213807"} ! sarcoma of cervix uteri is_a: MONDO:0018078 {source="MONDO:Redundant", source="NCIT:C128047"} ! soft tissue sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma @@ -372923,6 +373330,7 @@ xref: SCTID:193689002 {source="DOID:0050534"} xref: SCTID:232061009 {source="MONDO:equivalentTo"} xref: SCTID:89208008 {source="DOID:0050534"} xref: UMLS:C0339535 {source="MEDGEN:83289", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004587 {source="DOID:0050534"} ! hereditary night blindness is_a: MONDO:0004588 {source="DOID:0050534", source="MESH:C536122"} ! night blindness relationship: has_characteristic MONDO:0021152 {source="OMIMPS:310500"} ! inherited @@ -373015,7 +373423,7 @@ xref: Orphanet:2162 {source="DOID:4621", source="MONDO:equivalentTo"} xref: SCTID:30915001 {source="DOID:4621", source="MONDO:equivalentTo"} xref: SCTID:44519006 {source="DOID:4621"} xref: UMLS:C0079541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:38214"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74988"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:4621", source="MONDO:Redundant", source="NCIT:C74988"} ! syndromic disease is_a: MONDO:0002320 {source="DOID:4621", source="MONDO:indirect"} ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2162"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018762 ! non-acquired combined pituitary hormone deficiency @@ -374431,7 +374839,7 @@ xref: OMIM:268400 {source="Orphanet:2909", source="DOID:2732", source="MONDO:equ xref: Orphanet:221016 {source="MONDO:equivalentTo"} xref: UMLS:C5203410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684753"} is_a: MONDO:0005328 ! eye disorder -is_a: MONDO:0010002 {source="Orphanet:221016"} ! Rothmund-Thomson syndrome +is_a: MONDO:0010002 {source="OMIM:268400", source="Orphanet:221016"} ! Rothmund-Thomson syndrome relationship: has_characteristic MONDO:0021136 ! rare relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9949 {source="MONDO:mim2gene_medgen"} ! RECQL4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -374724,7 +375132,7 @@ xref: SCTID:111395007 {source="MONDO:equivalentTo", source="DOID:12387"} xref: SCTID:123294004 {source="DOID:12387"} xref: UMLS:C0162283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57876"} is_a: MONDO:0001343 {source="DOID:12387", source="ICD10CM:N25.1"} ! impaired renal function disease -is_a: MONDO:0004782 {source="MESH:D018500", source="NCIT:C84919"} ! diabetes insipidus +is_a: MONDO:0004782 {source="DOID:12387", source="MESH:D018500", source="NCIT:C84919"} ! diabetes insipidus is_a: MONDO:0005240 {source="MONDO:0019744-obsoleted"} ! kidney disorder is_a: MONDO:0015962 {source="Orphanet:223"} ! inherited renal tubular disease @@ -374881,7 +375289,7 @@ xref: Orphanet:224 {source="MONDO:equivalentTo"} xref: SCTID:49817004 {source="MONDO:equivalentTo", source="DOID:11717"} xref: UMLS:C0158981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57645"} is_a: MONDO:0005015 {source="Orphanet:224"} ! diabetes mellitus -is_a: MONDO:0015967 {source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes +is_a: MONDO:0015967 {source="Orphanet:224", source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare [Term] @@ -374991,7 +375399,7 @@ xref: SCTID:718610008 {source="MONDO:equivalentTo"} xref: UMLS:C5442006 {source="MEDGEN:1780208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy is_a: MONDO:0019502 {source="DC-OMIM:614339"} ! autosomal recessive non-syndromic intellectual disability -is_a: MONDO:0020135 {source="Orphanet:2254"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112322", source="Orphanet:2254"} ! pontocerebellar hypoplasia [Term] id: MONDO:0016397 @@ -375386,6 +375794,7 @@ xref: Orphanet:227535 {source="MONDO:equivalentTo"} xref: SCTID:254843006 {source="MONDO:equivalentTo"} xref: UMLS:C0346153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87542"} is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:227535/inferred"} ! hereditary disease +is_a: MONDO:0004989 {source="NCIT:C4503"} ! breast carcinoma intersection_of: MONDO:0004989 ! breast carcinoma intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: disease_has_feature MONDO:0004989 {source="NCIT:C4503", source="https://orcid.org/0000-0002-6601-2165"} ! breast carcinoma @@ -376588,7 +376997,7 @@ xref: Orphanet:231108 {source="MONDO:equivalentTo"} xref: UMLS:C2985524 {source="MEDGEN:457750", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002728 {source="MONDO:Redundant", source="Orphanet:231108"} ! rhabdoid tumor is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C93268/inferred", source="Orphanet:231108/inferred"} ! hereditary disease -is_a: MONDO:0015356 {source="NCIT:C93268"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="NCIT:C93268", source="Orphanet:231108"} ! hereditary neoplastic syndrome intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome intersection_of: disease_has_feature MONDO:0002728 ! rhabdoid tumor relationship: has_characteristic MONDO:0021152 {source="OMIMPS:609322"} ! inherited @@ -377479,7 +377888,7 @@ xref: OMIMPS:127000 {source="MONDO:equivalentTo"} xref: Orphanet:2333 {source="MONDO:equivalentTo"} xref: SCTID:82837002 {source="MONDO:equivalentTo"} xref: UMLS:C0265291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75560"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130991"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080724", source="MONDO:Redundant", source="NCIT:C130991"} ! syndromic disease is_a: MONDO:0005172 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal system disorder is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia is_a: MONDO:0800063 {source="https://orcid.org/0000-0001-8612-1062"} ! primordial dwarfism and slender bone disorder @@ -377928,7 +378337,7 @@ xref: SCTID:239007005 {source="DOID:14793"} xref: SCTID:4826006 {source="DOID:14793"} xref: SCTID:7731005 {source="DOID:14793", source="MONDO:directSiblingOf"} xref: UMLS:C0406701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590621"} -is_a: MONDO:0019287 {source="Orphanet:238468"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:14793", source="Orphanet:238468"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_disruption_of GO:0007499 {source="https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia#genes"} ! ectoderm and mesoderm interaction relationship: disease_has_basis_in_disruption_of GO:0071696 ! ectodermal placode development relationship: disease_has_feature HP:0000966 ! Hypohidrosis @@ -377971,7 +378380,7 @@ xref: OMIMPS:308240 {source="MONDO:equivalentTo", source="DOID:0060704"} xref: Orphanet:238510 {source="MONDO:equivalentObsolete"} xref: SCTID:277466009 {source="MONDO:equivalentTo"} xref: UMLS:C0024314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6162"} -is_a: MONDO:0003778 {source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity +is_a: MONDO:0003778 {source="DOID:0060704", source="https://orcid.org/0000-0001-5208-3432"} ! inborn error of immunity relationship: excluded_subClassOf MONDO:0015356 {source="Orphanet:238510", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome relationship: has_characteristic MONDO:0021152 {source="OMIMPS:308240"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6116" xsd:anyURI @@ -378574,7 +378983,7 @@ xref: NORD:1376 {source="MONDO:NORD"} xref: Orphanet:2406 {source="MONDO:equivalentTo"} xref: SCTID:38023001 {source="MONDO:equivalentTo", source="DOID:12697"} xref: UMLS:C0023944 {source="MEDGEN:7378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005071 {source="Orphanet:2406"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:12697", source="Orphanet:2406"} ! nervous system disorder relationship: has_characteristic MONDO:0021136 {source="MONDO:0020009"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome" xsd:anyURI {source="GARD:0006919"} @@ -379439,7 +379848,7 @@ xref: MEDGEN:392928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:241500 {source="Orphanet:247623/ntbt", source="Orphanet:247623", source="MONDO:includedEntryInOMIM"} xref: Orphanet:247623 {source="MONDO:equivalentTo"} xref: UMLS:C2673477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:392928"} -is_a: MONDO:0018570 {source="https://orcid.org/0000-0001-5208-3432"} ! hypophosphatasia +is_a: MONDO:0018570 {source="Orphanet:247623", source="https://orcid.org/0000-0001-5208-3432"} ! hypophosphatasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5811" xsd:anyURI @@ -379592,6 +380001,7 @@ xref: DOID:0111828 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: GARD:20665 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:247765/inclusion", source="Orphanet:247765", source="Orphanet:247765/ntbt"} xref: Orphanet:247765 {source="MONDO:equivalentTo"} +is_a: MONDO:0000425 {source="DOID:0050953"} ! X-linked disease is_a: MONDO:0100309 ! hereditary ataxia intersection_of: MONDO:0000437 ! cerebellar ataxia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -380209,7 +380619,7 @@ xref: MEDGEN:907332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:250831 {source="MONDO:equivalentTo"} xref: SCTID:716380002 {source="MONDO:equivalentTo"} xref: UMLS:C4274665 {source="MEDGEN:907332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019806 {source="Orphanet:250831"} ! primary progressive aphasia +is_a: MONDO:0019806 {source="DOID:0081389", source="Orphanet:250831"} ! primary progressive aphasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia" xsd:anyURI {source="GARD:0010791"} [Term] @@ -380614,7 +381024,8 @@ xref: OMIMPS:251200 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="MONDO:equivalentTo"} xref: SCTID:715981004 {source="MONDO:equivalentTo"} xref: UMLS:C3711387 {source="MEDGEN:777995", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016056 {source="Orphanet:2512"} ! isolated congenital microcephaly +is_a: MONDO:0006025 {source="DOID:0070296"} ! autosomal recessive disease +is_a: MONDO:0016056 {source="DOID:0070296", source="Orphanet:2512"} ! isolated congenital microcephaly intersection_of: MONDO:0016056 ! isolated congenital microcephaly intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: excluded_subClassOf MONDO:0015368 {source="MONDO:0020262-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease @@ -380951,7 +381362,7 @@ xref: OMIM:187370 {source="MONDO:equivalentTo", source="Orphanet:251515/ntbt", s xref: Orphanet:251515 {source="MONDO:equivalentTo"} xref: SCTID:275336002 {source="MONDO:equivalentTo"} xref: UMLS:C1861238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349990"} -is_a: MONDO:0019942 {source="DC-OMIM:187370", source="Orphanet:251515"} ! distal arthrogryposis +is_a: MONDO:0019942 {source="DC-OMIM:187370", source="DOID:0111593", source="OMIM:187370", source="Orphanet:251515"} ! distal arthrogryposis [Term] id: MONDO:0016676 @@ -381157,6 +381568,7 @@ xref: SCTID:55353007 {source="DOID:3078"} xref: UMLS:C0334579 {source="MEDGEN:137784", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016680 {source="NCIT:C9477", source="Orphanet:251589"} ! high grade astrocytic tumor is_a: MONDO:0019781 {source="DOID:3078", source="NCIT:C9477"} ! astrocytoma (excluding glioblastoma) +is_a: MONDO:0020633 {source="NCIT:C9477"} ! anaplastic cancer intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) intersection_of: has_characteristic PATO:0002092 ! anaplastic @@ -381379,7 +381791,7 @@ xref: ONCOTREE:PMA {source="MONDO:equivalentTo"} xref: Orphanet:251615 {source="MONDO:equivalentTo"} xref: SCTID:388600004 {source="DOID:4845"} xref: UMLS:C1519086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:276757"} -is_a: MONDO:0016691 {source="Orphanet:251615"} ! pilocytic astrocytoma +is_a: MONDO:0016691 {source="DOID:4845", source="Orphanet:251615"} ! pilocytic astrocytoma is_a: MONDO:0019781 {source="MONDO:Redundant", source="NCIT:C40315"} ! astrocytoma (excluding glioblastoma) [Term] @@ -381490,6 +381902,7 @@ xref: ONCOTREE:AODG {source="MONDO:equivalentTo"} xref: Orphanet:251630 {source="MONDO:equivalentTo"} xref: UMLS:C0334590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90812"} is_a: MONDO:0018744 {source="MONDO:Redundant", source="NCIT:C4326", source="Orphanet:251630"} ! oligodendroglial tumor +is_a: MONDO:0020633 {source="NCIT:C4326"} ! anaplastic cancer is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4326"} ! grade III glioma intersection_of: MONDO:0018744 ! oligodendroglial tumor intersection_of: has_characteristic PATO:0002092 ! anaplastic @@ -381553,7 +381966,7 @@ xref: SCTID:253066003 {source="DOID:4844"} xref: SCTID:443643007 {source="DOID:4844"} xref: SCTID:57706008 {source="DOID:4844"} xref: UMLS:C0014474 {source="MEDGEN:41825", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636/inferred"} ! ependymal tumor +is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C3017", source="ONCOTREE:EPM", source="Orphanet:251636", source="Orphanet:251636/inferred"} ! ependymal tumor is_a: MONDO:0021639 {source="MONDO:Redundant", source="NCIT:C3017"} ! grade II glioma intersection_of: MONDO:0003266 {source="NCIT:C3017"} ! ependymal tumor intersection_of: has_characteristic MONDO:0024492 {source="NCIT:C3017"} ! tumor grade 2, general grading system @@ -381583,7 +381996,7 @@ xref: ONCOTREE:MPE {source="MONDO:equivalentTo"} xref: Orphanet:251643 {source="MONDO:equivalentTo"} xref: SCTID:1623000 {source="DOID:5075"} xref: UMLS:C0205769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:104717"} -is_a: MONDO:0003266 {source="NCIT:C3697", source="ONCOTREE:MPE", source="Orphanet:251643/inferred"} ! ependymal tumor +is_a: MONDO:0003266 {source="NCIT:C3697", source="ONCOTREE:MPE", source="Orphanet:251643", source="Orphanet:251643/inferred"} ! ependymal tumor property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma" xsd:anyURI {source="GARD:0010633"} [Term] @@ -381627,6 +382040,7 @@ xref: ONCOTREE:APE {source="MONDO:equivalentTo"} xref: Orphanet:251646 {source="MONDO:equivalentTo"} xref: UMLS:C0280788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:128891"} is_a: MONDO:0003266 {source="MONDO:Redundant", source="NCIT:C4049", source="ONCOTREE:APE", source="Orphanet:251646"} ! ependymal tumor +is_a: MONDO:0020633 {source="NCIT:C4049"} ! anaplastic cancer is_a: MONDO:0021640 {source="MONDO:Redundant", source="NCIT:C4049"} ! grade III glioma is_a: MONDO:0100342 {source="DOID:5074", source="MONDO:Entailed", source="MONDO:Redundant"} ! malignant glioma intersection_of: MONDO:0003266 ! ependymal tumor @@ -381711,6 +382125,7 @@ xref: ONCOTREE:AOAST {source="MONDO:equivalentTo"} xref: Orphanet:251663 {source="MONDO:equivalentTo"} xref: UMLS:C0431108 {source="MEDGEN:96556", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003268 {source="MONDO:Redundant", source="NCIT:C6959"} ! mixed glioma +is_a: MONDO:0005853 {source="NCIT:C6959"} ! malignant mixed neoplasm is_a: MONDO:0020633 {source="NCIT:C6959"} ! anaplastic cancer is_a: MONDO:0021640 {source="NCIT:C6959"} ! grade III glioma intersection_of: MONDO:0016702 ! oligoastrocytoma @@ -381753,7 +382168,7 @@ xref: ONCOTREE:ANGL {source="MONDO:equivalentTo"} xref: Orphanet:251671 {source="MONDO:equivalentTo"} xref: UMLS:C2363903 {source="MONDO:equivalentTo", source="MEDGEN:453267", source="MONDO:MEDGEN"} is_a: MONDO:0021042 {source="https://orcid.org/0000-0001-5208-3432"} ! glioma -is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma +is_a: MONDO:0021637 {source="DOID:0081261", source="NCIT:C92552"} ! low grade glioma [Term] id: MONDO:0016706 @@ -381784,7 +382199,7 @@ xref: Orphanet:251674 {source="MONDO:equivalentTo"} xref: SCTID:128789002 {source="DOID:3773", source="DOID:3774"} xref: SCTID:715900001 {source="MONDO:equivalentTo"} xref: UMLS:C1322252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232956"} -is_a: MONDO:0002682 {source="DOID:3773", source="MONDO:Redundant", source="NCIT:C5592"} ! cerebral ventricle cancer +is_a: MONDO:0002682 {source="DOID:3773", source="DOID:3774", source="MONDO:Redundant", source="NCIT:C5592"} ! cerebral ventricle cancer is_a: MONDO:0005499 {source="DOID:3773", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain glioma is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C5592"} ! glioma relationship: disease_has_location UBERON:0002286 ! third ventricle @@ -382210,7 +382625,7 @@ xref: ONCOTREE:PINC {source="MONDO:equivalentTo"} xref: Orphanet:251912 {source="MONDO:equivalentTo"} xref: SCTID:255045009 {source="MONDO:equivalentTo"} xref: UMLS:C0917890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183004"} -is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm +is_a: MONDO:0000627 {source="DOID:0081248", source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C6966/inferred"} ! benign neoplasm of brain is_a: MONDO:0024890 {source="NCIT:C6966"} ! pineal parenchymal cell neoplasm relationship: has_characteristic PATO:0002096 {source="NCIT:C6966"} ! neoplastic, non-malignant @@ -382314,7 +382729,7 @@ xref: MEDGEN:105377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4747 {source="MONDO:equivalentTo"} xref: Orphanet:251934 {source="MONDO:equivalentTo"} xref: UMLS:C0474844 {source="MEDGEN:105377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021193 {source="Orphanet:251934"} ! neuroepithelial neoplasm +is_a: MONDO:0021193 {source="NCIT:C4747", source="Orphanet:251934"} ! neuroepithelial neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0016679"} ! rare [Term] @@ -382560,6 +382975,7 @@ is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C7012/inferred"} ! c is_a: MONDO:0003000 {source="MONDO:Redundant", source="NCIT:C7012/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0003578 {source="NCIT:C7012"} ! extragonadal nonseminomatous germ cell tumor is_a: MONDO:0005207 {source="MONDO:Redundant", source="NCIT:C7012"} ! choriocarcinoma +is_a: MONDO:0020574 {source="NCIT:C7012"} ! central nervous system nongerminomatous germ cell tumor intersection_of: MONDO:0005207 ! choriocarcinoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -382641,6 +383057,7 @@ xref: ONCOTREE:MNGT {source="MONDO:equivalentTo"} xref: Orphanet:252025 {source="MONDO:equivalentTo"} xref: SCTID:126965008 {source="MONDO:equivalentTo"} xref: UMLS:C0025284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44353"} +is_a: MONDO:0006130 {source="NCIT:C3229"} ! central nervous system neoplasm is_a: MONDO:0021248 {source="Orphanet:252025"} ! nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster @@ -383000,7 +383417,7 @@ xref: Orphanet:2524 {source="MONDO:equivalentTo"} xref: SCTID:715463008 {source="MONDO:equivalentTo"} xref: UMLS:C2932714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:420956"} is_a: MONDO:0016113 {source="MONDO:0016131-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/"} ! bulbospinal muscular atrophy -is_a: MONDO:0020135 {source="Orphanet:2524"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112328", source="Orphanet:2524"} ! pontocerebellar hypoplasia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2" xsd:anyURI {source="GARD:0010705"} [Term] @@ -383056,7 +383473,7 @@ xref: MEDGEN:20916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:252 {source="MONDO:equivalentObsolete"} xref: Orphanet:253 {source="MONDO:mondoIsBroaderThanSource"} xref: UMLS:C0038015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:20916"} -is_a: MONDO:0005516 {source="DOID:0080027"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0080027", source="DOID:0112280"} ! osteochondrodysplasia is_a: MONDO:0018230 {source="Orphanet:253", source="PMID:31633310"} ! skeletal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7065" xsd:anyURI @@ -383981,6 +384398,7 @@ xref: MEDGEN:340509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564926 {source="MONDO:equivalentTo"} xref: Orphanet:254886 {source="MONDO:equivalentTo"} xref: UMLS:C1850303 {source="MEDGEN:340509", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005181 {source="Orphanet:254886"} ! progressive external ophthalmoplegia intersection_of: MONDO:0005181 ! progressive external ophthalmoplegia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -384128,7 +384546,7 @@ xref: OMIMPS:224690 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:2554 {source="MONDO:equivalentTo", source="DOID:0060306"} xref: SCTID:703508009 {source="DOID:0060306"} xref: UMLS:C1868684 {source="MONDO:equivalentTo", source="MEDGEN:401501", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060306", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0060306", source="MONDO:Redundant"} ! autosomal recessive disease is_a: MONDO:0015160 {source="Orphanet:2554"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: has_characteristic HP:0000007 {source="Orphanet:2554"} ! Autosomal recessive inheritance @@ -384343,7 +384761,7 @@ xref: MESH:C537476 {source="Orphanet:2597", source="MONDO:equivalentTo", source= xref: OMIM:251950 {source="Orphanet:2597", source="Orphanet:2597/ntbt", source="MONDO:equivalentTo"} xref: Orphanet:2597 {source="MONDO:equivalentTo", source="OMIM:251950"} xref: UMLS:C1855033 {source="MONDO:equivalentTo", source="MEDGEN:343245", source="MONDO:MEDGEN"} -is_a: MONDO:0009637 {source="MESH:C537476", source="https://orcid.org/0000-0002-6601-2165"} ! inborn mitochondrial myopathy +is_a: MONDO:0009637 {source="MESH:C537476", source="Orphanet:2597", source="https://orcid.org/0000-0002-6601-2165"} ! inborn mitochondrial myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28900 {source="MONDO:mim2gene_medgen"} ! PNPLA8 property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis" xsd:anyURI {source="GARD:0003682"} @@ -387780,7 +388198,7 @@ xref: SCTID:33176006 {source="DOID:0001816"} xref: SCTID:39000009 {source="DOID:0001816"} xref: SCTID:403977003 {source="DOID:0001816", source="MONDO:equivalentTo", source="EFO:0003968"} xref: UMLS:C0018923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42385"} -is_a: MONDO:0002095 {source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! vascular cancer +is_a: MONDO:0002095 {source="DOID:0001816", source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088", source="Orphanet:263413"} ! vascular cancer is_a: MONDO:0005089 {source="DOID:0001816", source="EFO:0003967", source="EFO:0003968/inferred", source="MESH:D006394", source="MONDO:Redundant", source="NCIT:C3088"} ! sarcoma is_a: MONDO:0018078 {source="Orphanet:263413"} ! soft tissue sarcoma is_a: MONDO:0024296 {source="MONDO:Redundant", source="Orphanet:263413"} ! vascular neoplasm @@ -388840,6 +389258,7 @@ is_a: MONDO:0002730 {source="DOID:4773", source="NCIT:C6569/inferred"} ! childho is_a: MONDO:0003130 {source="DOID:4773"} ! mesoblastic nephroma is_a: MONDO:0005564 {source="NCIT:C6569"} ! embryonal neoplasm is_a: MONDO:0021163 {source="Orphanet:2665"} ! kidney neoplasm +is_a: MONDO:0036511 {source="NCIT:C6569"} ! childhood malignant kidney neoplasm relationship: has_characteristic MONDO:0021136 {source="MONDO:0019749"} ! rare relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -390562,7 +390981,7 @@ xref: NCIT:C125487 {source="MONDO:equivalentTo"} xref: OMIMPS:300000 {source="MONDO:equivalentObsolete", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:2745 {source="MONDO:equivalentTo"} xref: SCTID:81771002 {source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125487"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080697", source="MONDO:Redundant", source="NCIT:C125487"} ! syndromic disease is_a: MONDO:0008537 {source="Orphanet:2745"} ! telecanthus is_a: MONDO:0015159 {source="Orphanet:2745"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2745", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability @@ -391998,7 +392417,7 @@ xref: MEDGEN:1826175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7185 {source="MONDO:equivalentTo"} xref: Orphanet:279911 {source="MONDO:equivalentTo"} xref: UMLS:C5680788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826175"} -is_a: MONDO:0005062 {source="Orphanet:279911"} ! lymphoma +is_a: MONDO:0005062 {source="NCIT:C7185", source="Orphanet:279911"} ! lymphoma [Term] id: MONDO:0017208 @@ -393513,7 +393932,7 @@ xref: MEDGEN:1681325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:284169 {source="MONDO:equivalentTo"} xref: UMLS:C5190804 {source="MEDGEN:1681325", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016892 {source="Orphanet:284169"} ! partial deletion of the short arm of chromosome 10 -is_a: MONDO:0018760 {source="https://clinicalgenome.org/affiliation/40006/"} ! DeSanto-Shinawi syndrome +is_a: MONDO:0018760 {source="Orphanet:284169", source="https://clinicalgenome.org/affiliation/40006/"} ! DeSanto-Shinawi syndrome relationship: disease_arises_from_structure CHR:9606-chr10p11.21-p12.31 {source="https://orcid.org/0000-0002-4142-7153"} ! 10p11.21-p12.31 (Human) relationship: excluded_subClassOf MONDO:0014741 {source="https://orcid.org/0000-0001-5208-3432"} ! DeSanto-Shinawi syndrome due to WAC point mutation relationship: has_characteristic SO:1000029 {source="https://orcid.org/0000-0002-4142-7153"} ! chromosomal_deletion @@ -393971,7 +394390,7 @@ xref: Orphanet:284811 {source="MONDO:equivalentTo"} xref: UMLS:C5681016 {source="MEDGEN:1843078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0018134 ! disorder of melanin metabolism -is_a: MONDO:0019290 ! hypopigmentation of the skin +is_a: MONDO:0019290 {source="Orphanet:284811"} ! hypopigmentation of the skin property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI [Term] @@ -394416,7 +394835,7 @@ xref: SCTID:90505000 {source="MONDO:equivalentTo"} xref: UMLS:C0342643 {source="MEDGEN:137975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000044 {source="MONDO:Redundant", source="Orphanet:289176"} ! hereditary hypophosphatemic rickets is_a: MONDO:0005520 {source="DOID:0050949", source="MONDO:Redundant"} ! rickets -is_a: MONDO:0006025 {source="MONDO:Redundant"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:0050949", source="MONDO:Redundant"} ! autosomal recessive disease intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance relationship: has_characteristic HP:0000007 {source="Orphanet:289176"} ! Autosomal recessive inheritance @@ -395819,7 +396238,7 @@ xref: Orphanet:293199 {source="MONDO:equivalentTo"} xref: SCTID:404054005 {source="MONDO:equivalentTo", source="DOID:3250"} xref: SCTID:77455004 {source="DOID:3250"} xref: UMLS:C0334480 {source="MEDGEN:137770", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:PLRMS"} ! rhabdomyosarcoma +is_a: MONDO:0005212 {source="DOID:3250", source="NCIT:C4258", source="ONCOTREE:PLRMS", source="Orphanet:293199"} ! rhabdomyosarcoma [Term] id: MONDO:0017387 @@ -396772,7 +397191,7 @@ xref: Orphanet:294963 {source="DOID:0060055", source="MONDO:equivalentTo"} xref: SCTID:205820002 {source="DOID:0060055"} xref: SCTID:66783006 {source="DOID:0060055", source="MONDO:equivalentTo"} xref: UMLS:C0265259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78543"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118786"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060055", source="MONDO:Redundant", source="NCIT:C118786"} ! syndromic disease is_a: MONDO:0015225 {source="Orphanet:294963"} ! arthrogryposis syndrome is_a: MONDO:1040010 {source="PMID:14757865", source="PMID:18478600", source="PMID:20803643", source="PMID:25691407", source="PMID:27252970"} ! IRF6-related condition relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:294963", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations @@ -399044,7 +399463,7 @@ xref: PMID:18388779 {source="DOID:0070143"} xref: SCTID:238826008 {source="DOID:0070143", source="MONDO:equivalentTo"} xref: SCTID:59252009 {source="DOID:0070143"} xref: UMLS:C0268354 {source="MEDGEN:82794", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006025 {source="https://orcid.org/0000-0002-2825-0621"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:0070143", source="https://orcid.org/0000-0002-2825-0621"} ! autosomal recessive disease is_a: MONDO:0019303 {source="Orphanet:2962"} ! premature aging syndrome relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare hereditary metabolic disease with peripheral neuropathy relationship: excluded_subClassOf MONDO:0016175 {source="DOID:0070143", source="MESH:C535990", source="Orphanet:2962", source="https://orcid.org/0000-0001-5208-3432"} ! cutis laxa @@ -399105,7 +399524,7 @@ xref: UMLS:C1866398 {source="MEDGEN:356222", source="MONDO:equivalentTo", source is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015356 {source="PMID:35582557", source="https://orcid.org/0009-0001-6494-4831"} ! hereditary neoplastic syndrome -is_a: MONDO:0017623 {source="NCIT:C179915", source="https://orcid.org/0000-0001-5208-3432"} ! PTEN hamartoma tumor syndrome +is_a: MONDO:0017623 {source="NCIT:C179915", source="Orphanet:2969", source="https://orcid.org/0000-0001-5208-3432"} ! PTEN hamartoma tumor syndrome is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor relationship: disease_shares_features_of MONDO:0008318 ! Proteus syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6533" xsd:anyURI @@ -399341,7 +399760,7 @@ xref: OMIMPS:243310 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:2995 {source="MONDO:equivalentTo"} xref: SCTID:702410002 {source="MONDO:equivalentTo"} xref: UMLS:C1853623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340016"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060229", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2995"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0018838 {source="MONDO:0015147-obsoleted"} ! lissencephaly spectrum disorders relationship: has_characteristic MONDO:0021152 {source="OMIMPS:243310"} ! inherited @@ -399699,7 +400118,7 @@ xref: MEDGEN:1791561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C178541 {source="MONDO:equivalentTo"} xref: Orphanet:300846 {source="MONDO:equivalentTo"} xref: UMLS:C5555120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1791561"} -is_a: MONDO:0015759 {source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma +is_a: MONDO:0015759 {source="NCIT:C178541", source="Orphanet:300846"} ! B-cell non-Hodgkin lymphoma [Term] id: MONDO:0017596 @@ -399728,7 +400147,7 @@ xref: Orphanet:300849 {source="MONDO:equivalentTo"} xref: SCTID:734066005 {source="MONDO:equivalentTo"} xref: UMLS:C2026186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:378339"} is_a: MONDO:0002571 {source="MONDO:Entailed", source="NCIT:C71720/inferred"} ! primary central nervous system lymphoma -is_a: MONDO:0018905 {source="MONDO:Redundant", source="NCIT:C71720", source="Orphanet:300849"} ! diffuse large B-cell lymphoma +is_a: MONDO:0018905 {source="DOID:0081313", source="MONDO:Redundant", source="NCIT:C71720", source="Orphanet:300849"} ! diffuse large B-cell lymphoma intersection_of: MONDO:0018905 ! diffuse large B-cell lymphoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -399941,7 +400360,7 @@ xref: Orphanet:300912 {source="MONDO:equivalentTo"} xref: SCTID:447100004 {source="MONDO:equivalentTo"} xref: UMLS:C1367654 {source="MEDGEN:277950", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004095 {source="DOID:0050748", source="MONDO:Redundant", source="NCIT:C4341/inferred"} ! B-cell neoplasm -is_a: MONDO:0017594 {source="Orphanet:300912"} ! indolent B-cell non-Hodgkin lymphoma +is_a: MONDO:0017594 {source="NCIT:C4341", source="Orphanet:300912"} ! indolent B-cell non-Hodgkin lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location CL:0000845 ! marginal zone B cell of spleen @@ -402968,7 +403387,7 @@ xref: NORD:1412 {source="MONDO:NORD"} xref: Orphanet:3109 {source="MONDO:equivalentTo"} xref: SCTID:8793008 {source="MONDO:equivalentTo"} xref: UMLS:C1698581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352204"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124853"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0112177", source="MONDO:Redundant", source="NCIT:C124853"} ! syndromic disease is_a: MONDO:0015830 {source="Orphanet:3109"} ! partial bilateral aplasia of the mullerian ducts property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6438" xsd:anyURI @@ -403914,8 +404333,8 @@ xref: NCIT:C6620 {source="MONDO:equivalentTo", source="DOID:6759"} xref: Orphanet:314684 {source="MONDO:equivalentTo"} xref: SCTID:766935007 {source="MONDO:equivalentTo"} xref: UMLS:C1332582 {source="MEDGEN:231451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002129 {source="NCIT:C6620"} ! bone cancer -is_a: MONDO:0017207 {source="Orphanet:314684"} ! primary organ-specific lymphoma +is_a: MONDO:0002129 {source="DOID:6759", source="NCIT:C6620"} ! bone cancer +is_a: MONDO:0017207 {source="NCIT:C6620", source="Orphanet:314684"} ! primary organ-specific lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue relationship: excluded_subClassOf MONDO:0002129 {source="DOID:6759", source="https://orcid.org/0000-0001-5208-3432"} ! bone cancer @@ -404085,6 +404504,7 @@ xref: OMIMPS:102200 {source="MONDO:equivalentTo"} xref: Orphanet:314777 {source="MONDO:equivalentTo"} xref: SCTID:702375004 {source="MONDO:equivalentTo"} xref: UMLS:C2676191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436629"} +is_a: MONDO:0006373 {source="Orphanet:314777"} ! pituitary gland adenoma intersection_of: MONDO:0006373 ! pituitary gland adenoma intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021152 {source="OMIMPS:102200"} ! inherited @@ -405366,6 +405786,7 @@ xref: Orphanet:319247 {source="MONDO:equivalentTo"} xref: SCTID:120639003 {source="DOID:14472", source="MONDO:equivalentTo"} xref: UMLS:C0243025 {source="MEDGEN:66205", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="NCIT:C84747"} ! syndromic disease +is_a: MONDO:0005275 {source="DOID:14472"} ! lung disorder is_a: MONDO:0005780 {source="MESH:D018804", source="MONDO:Redundant", source="NCIT:C84747"} ! hantavirus infectious disease is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever intersection_of: MONDO:0000001 ! disease @@ -405594,7 +406015,7 @@ xref: MEDGEN:1376834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:319308 {source="MONDO:equivalentTo"} xref: SCTID:764694005 {source="MONDO:equivalentTo"} xref: UMLS:C4518356 {source="MEDGEN:1376834", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005086 {source="Orphanet:319308"} ! renal cell carcinoma +is_a: MONDO:0005086 {source="DOID:0081413", source="Orphanet:319308"} ! renal cell carcinoma [Term] id: MONDO:0017887 @@ -405699,6 +406120,7 @@ xref: Orphanet:319465 {source="MONDO:equivalentTo"} xref: SCTID:764940002 {source="MONDO:equivalentTo"} xref: UMLS:C4707228 {source="MEDGEN:1634915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005070 {source="MONDO:Entailed", source="Orphanet:319465", source="Orphanet:319465/inferred"} ! neoplasm +is_a: MONDO:0018874 {source="Orphanet:319465"} ! acute myeloid leukemia intersection_of: MONDO:0018874 ! acute myeloid leukemia intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: excluded_subClassOf MONDO:0011118 {source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia @@ -405730,7 +406152,7 @@ xref: NCIT:C82433 {source="MONDO:equivalentTo"} xref: Orphanet:319480 {source="MONDO:equivalentTo"} xref: SCTID:764855007 {source="MONDO:equivalentTo"} xref: UMLS:C4707178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1640289"} -is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081095", source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -405979,7 +406401,7 @@ xref: ICD10EXP:L99.0* {source="Orphanet:319635/ntbt", source="Orphanet:319635"} xref: MEDGEN:1641859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:319635 {source="MONDO:equivalentTo"} xref: UMLS:C4554601 {source="MEDGEN:1641859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015301 {source="Orphanet:319635"} ! primary cutaneous amyloidosis +is_a: MONDO:0015301 {source="DOID:0080932", source="Orphanet:319635"} ! primary cutaneous amyloidosis [Term] id: MONDO:0017907 @@ -407755,6 +408177,7 @@ xref: GARD:12567 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="Orphanet:329303/attributed", source="Orphanet:329303/ntbt", source="Orphanet:329303"} xref: NORD:1302 {source="MONDO:NORD"} xref: Orphanet:329303 {source="MONDO:equivalentTo"} +is_a: MONDO:0018307 {source="Orphanet:329303"} ! neurodegeneration with brain iron accumulation intersection_of: MONDO:0018307 ! neurodegeneration with brain iron accumulation intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9039 ! PLA2G6 relationship: excluded_subClassOf MONDO:0018118 {source="Orphanet:329303", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement @@ -408152,7 +408575,7 @@ xref: Orphanet:330001 {source="MONDO:equivalentTo"} xref: SCTID:237877004 {source="MONDO:equivalentTo"} xref: UMLS:C0342623 {source="MEDGEN:87446", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016345 {source="Orphanet:330001"} ! non-familial restrictive cardiomyopathy -is_a: MONDO:0019065 {source="Orphanet:330001"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080937", source="Orphanet:330001"} ! amyloidosis [Term] id: MONDO:0018019 @@ -408580,7 +409003,7 @@ xref: NCIT:C3144 {source="MONDO:equivalentTo"} xref: OMIMPS:147060 {source="MONDO:equivalentTo"} xref: Orphanet:331223 {source="MONDO:equivalentTo"} xref: UMLS:C3887645 {source="MEDGEN:854488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002468 {source="NCIT:C3144"} ! hyperimmunoglobulin syndrome +is_a: MONDO:0002468 {source="DOID:0080545", source="NCIT:C3144"} ! hyperimmunoglobulin syndrome relationship: has_characteristic MONDO:0021152 {source="OMIMPS:147060"} ! inherited [Term] @@ -410074,7 +410497,7 @@ xref: SCTID:47434006 {source="DOID:9258"} xref: SCTID:715952000 {source="MONDO:equivalentTo"} xref: UMLS:C3266898 {source="MONDO:equivalentTo", source="MEDGEN:473809", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:9258", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85222"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:9258", source="MONDO:Redundant", source="NCIT:C85222"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:3440"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: disease_has_feature HP:0000486 ! Strabismus relationship: disease_has_feature HP:0002226 {source="Orphanet:3440"} ! White eyebrow @@ -410144,7 +410567,7 @@ xref: SCTID:205801004 {source="DOID:0050475"} xref: SCTID:2884008 {source="DOID:0050475", source="MONDO:equivalentTo"} xref: UMLS:C0265313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82705"} is_a: MONDO:0000429 {source="DOID:0050475"} ! autosomal genetic disease -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85226"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050475", source="MONDO:Redundant", source="NCIT:C85226"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:3449"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0019695 {source="Orphanet:3449", source="PMID:19396027"} ! acromelic dysplasia relationship: excluded_subClassOf MONDO:0019066 {source="Orphanet:3449", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome with brachydactyly @@ -412166,7 +412589,7 @@ xref: SCTID:37995004 {source="DOID:4023"} xref: SCTID:721629005 {source="MONDO:equivalentTo"} xref: UMLS:C4303226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928895"} is_a: MONDO:0004950 {source="Orphanet:36273"} ! gastric carcinoma -is_a: MONDO:0005017 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42"} ! diffuse gastric adenocarcinoma +is_a: MONDO:0005017 {source="DOID:4023", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42"} ! diffuse gastric adenocarcinoma is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition relationship: disease_has_location UBERON:0001167 ! wall of stomach relationship: has_characteristic MONDO:0021136 {source="MONDO:0018501"} ! rare @@ -413736,7 +414159,7 @@ xref: OMIM:113750 {source="Orphanet:370097/ntbt", source="Orphanet:370097", sour xref: Orphanet:370097 {source="MONDO:equivalentTo", source="OMIM:113750"} xref: SCTID:722058005 {source="MONDO:equivalentTo"} xref: UMLS:C3805375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811705"} -is_a: MONDO:0018910 {source="OMIM:113750", source="Orphanet:370097"} ! oculocutaneous albinism +is_a: MONDO:0018910 {source="DOID:0080614", source="OMIM:113750", source="Orphanet:370097"} ! oculocutaneous albinism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -413999,7 +414422,7 @@ xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953/attributed", xref: MEDGEN:1842215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:370953 {source="DOID:0050588", source="MONDO:equivalentTo"} xref: UMLS:C5679911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842215"} -is_a: MONDO:0019950 {source="DOID:0050588", source="Orphanet:370953"} ! congenital muscular dystrophy +is_a: MONDO:0019950 {source="DOID:0050588", source="DOID:0112374", source="Orphanet:370953"} ! congenital muscular dystrophy relationship: disease_disrupts GO:0006486 ! protein glycosylation [Term] @@ -415415,6 +415838,7 @@ xref: ICD10CM:G72.3 {source="Orphanet:397750", source="Orphanet:397750/attribute xref: MEDGEN:1670241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:397750 {source="MONDO:equivalentTo"} xref: UMLS:C4751573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670241"} +is_a: MONDO:0000995 {source="Orphanet:397750"} ! familial periodic paralysis is_a: MONDO:0016122 {source="MONDO:Redundant", source="Orphanet:397750"} ! periodic paralysis is_a: MONDO:0016387 ! mitochondrial oxidative phosphorylation disorder is_a: MONDO:0019056 {source="Orphanet:397750"} ! neuromuscular disease @@ -417538,6 +417962,7 @@ is_a: MONDO:0001566 {source="DOID:0060699"} ! hypercalcemia disease is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C123262", source="Orphanet:405/inferred"} ! hereditary disease is_a: MONDO:0005151 {source="MONDO:0015970-obsoleted", source="MONDO:0019061-obsoleted"} ! endocrine system disorder is_a: MONDO:0017014 ! interstitial lung disease specific to childhood +is_a: MONDO:0019052 {source="DOID:0060699"} ! inborn errors of metabolism relationship: disease_has_feature HP:0004348 {source="Orphanet:405"} ! Abnormality of bone mineral density relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:405", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145980"} ! inherited @@ -418219,6 +418644,7 @@ xref: MEDGEN:1682018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:420699 {source="MONDO:equivalentTo"} xref: UMLS:C5190862 {source="MEDGEN:1682018", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0018542 {source="Orphanet:420699", source="Orphanet:420699/inferred"} ! severe congenital neutropenia +is_a: MONDO:0028226 {source="Orphanet:420699"} ! autosomal recessive severe congenital neutropenia intersection_of: MONDO:0018542 ! severe congenital neutropenia intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6027 ! CXCR2 @@ -418834,6 +419260,7 @@ xref: UMLS:C1335690 {source="MEDGEN:235534", source="MONDO:equivalentTo", source is_a: MONDO:0006165 {source="MONDO:Redundant", source="NCIT:C5554"} ! colorectal squamous cell carcinoma is_a: MONDO:0006519 {source="DOID:5528", source="MONDO:Entailed", source="NCIT:C5554/inferred"} ! rectal cancer is_a: MONDO:0024476 {source="Orphanet:424002"} ! epithelial neoplasm of rectum +is_a: MONDO:0044937 {source="NCIT:C5554"} ! rectal carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001052 ! rectum relationship: has_characteristic MONDO:0021136 {source="MONDO:0018514"} ! rare @@ -418912,7 +419339,8 @@ xref: MEDGEN:393937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C173813 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: Orphanet:424039 {source="MONDO:equivalentTo"} xref: UMLS:C2675993 {source="MEDGEN:393937", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005192 {source="Orphanet:424039"} ! exocrine pancreatic carcinoma +is_a: MONDO:0005096 {source="DOID:0080323", source="NCIT:C173813"} ! squamous cell carcinoma +is_a: MONDO:0005192 {source="NCIT:C173813", source="Orphanet:424039"} ! exocrine pancreatic carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001264 ! pancreas relationship: has_characteristic MONDO:0021136 {source="MONDO:0016314"} ! rare @@ -419094,6 +419522,7 @@ xref: NCIT:C7927 {source="MONDO:equivalentTo"} xref: ONCOTREE:HCCIHCH {source="MONDO:equivalentTo"} xref: Orphanet:424936 {source="MONDO:equivalentTo"} xref: UMLS:C0279000 {source="MEDGEN:78921", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002691 {source="NCIT:C7927"} ! liver cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C7927"} ! digestive system carcinoma is_a: MONDO:0024477 {source="MONDO:0018530-obsoleted"} ! liver and intrahepatic bile duct neoplasm intersection_of: MONDO:0004993 ! carcinoma @@ -419358,6 +419787,7 @@ xref: OMIMPS:601198 {source="MONDO:equivalentTo", source="DOID:0090109", source= xref: Orphanet:428 {source="MONDO:equivalentTo", source="DOID:0090109"} xref: SCTID:711152006 {source="MONDO:equivalentTo"} xref: UMLS:C4048195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:884527"} +is_a: MONDO:0000426 {source="DOID:0090109"} ! autosomal dominant disease is_a: MONDO:0005557 {source="DOID:0090109", source="Orphanet:428/inferred"} ! calcium metabolic disease is_a: MONDO:0016390 {source="Orphanet:428", source="https://github.com/monarch-initiative/mondo/issues/1305"} ! familial hypoparathyroidism relationship: disease_has_feature HP:0000829 ! Hypoparathyroidism @@ -419880,6 +420310,7 @@ xref: MEDGEN:1800451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:435819 {source="MONDO:equivalentTo"} xref: UMLS:C5569028 {source="MEDGEN:1800451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0011468 ! hereditary motor and sensory neuropathy, Okinawa type +is_a: MONDO:0018993 {source="Orphanet:435819"} ! Charcot-Marie-Tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-Tooth disease type 2 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11758 ! TFG @@ -420289,7 +420720,7 @@ xref: icd11.foundation:1235542353 {source="MONDO:equivalentTo"} xref: MEDGEN:1800228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:439232 {source="MONDO:equivalentTo"} xref: UMLS:C5568805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1800228"} -is_a: MONDO:0019065 {source="Orphanet:439232"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080927", source="Orphanet:439232"} ! amyloidosis relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:439232", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease [Term] @@ -420306,7 +420737,7 @@ xref: icd11.foundation:448754119 {source="MONDO:equivalentTo", source="Orphanet: xref: MEDGEN:1842860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:439246 {source="MONDO:equivalentTo"} xref: UMLS:C5680053 {source="MONDO:equivalentTo", source="MEDGEN:1842860", source="MONDO:MEDGEN"} -is_a: MONDO:0019065 {source="Orphanet:439246"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080928", source="Orphanet:439246"} ! amyloidosis [Term] id: MONDO:0018591 @@ -420773,7 +421204,7 @@ xref: MEDGEN:1684787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C158962 {source="MONDO:equivalentTo"} xref: Orphanet:442582 {source="MONDO:equivalentTo"} xref: UMLS:C5204115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684787"} -is_a: MONDO:0019065 {source="Orphanet:442582"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080934", source="Orphanet:442582"} ! amyloidosis relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:442582", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease [Term] @@ -422422,7 +422853,7 @@ xref: SCTID:269630009 {source="DOID:9513"} xref: SCTID:39193004 {source="DOID:9513"} xref: SCTID:95210003 {source="DOID:9513", source="MONDO:equivalentTo", source="EFO:0006475"} xref: UMLS:C0023484 {source="MEDGEN:9733", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004959 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714"} ! plasma cell neoplasm +is_a: MONDO:0004959 {source="DOID:9513", source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714"} ! plasma cell neoplasm is_a: MONDO:0004967 {source="DOID:9513", source="MONDO:Redundant", source="MONDO:indirect"} ! acute lymphoblastic leukemia is_a: MONDO:0005402 {source="NCIT:C3180"} ! lymphoid leukemia property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia" xsd:anyURI {source="GARD:0009373"} @@ -422910,7 +423341,7 @@ xref: MEDGEN:1672492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C172209 {source="MONDO:equivalentTo"} xref: Orphanet:458785 {source="MONDO:equivalentTo"} xref: UMLS:C4733501 {source="MONDO:equivalentTo", source="MEDGEN:1672492", source="MONDO:MEDGEN"} -is_a: MONDO:0018715 {source="Orphanet:458785"} ! congenital hemangioma +is_a: MONDO:0018715 {source="NCIT:C172209", source="Orphanet:458785"} ! congenital hemangioma [Term] id: MONDO:0018717 @@ -424601,7 +425032,7 @@ xref: MEDGEN:1814547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200934 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:480520 {source="MONDO:equivalentTo"} xref: UMLS:C5700203 {source="MEDGEN:1814547", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0081394", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0004335 {source="https://orcid.org/0000-0001-9310-0163"} ! digestive system disorder is_a: MONDO:0004868 {source="PMID:17461493", source="https://orcid.org/0000-0002-3458-4839"} ! biliary tract disorder @@ -425343,6 +425774,7 @@ xref: UMLS:C1333377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0002714 {source="DOID:7232/inferred", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system cancer is_a: MONDO:0003000 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0005440 {source="DOID:7232", source="MONDO:Redundant", source="NCIT:C7010/inferred", source="Orphanet:48736"} ! embryonal carcinoma +is_a: MONDO:0020574 {source="NCIT:C7010"} ! central nervous system nongerminomatous germ cell tumor intersection_of: MONDO:0005440 ! embryonal carcinoma intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -426057,7 +426489,7 @@ xref: Orphanet:517 {source="MONDO:equivalentTo", source="GARD:0000529"} xref: SCTID:110005000 {source="MONDO:equivalentTo"} xref: SCTID:30962008 {source="EFO:0000223"} xref: UMLS:C0023479 {source="MEDGEN:9732", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015667 {source="NCIT:C7463"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C7463", source="Orphanet:517"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0000223", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia" xsd:anyURI {source="GARD:0000529"} @@ -426117,7 +426549,7 @@ xref: SCTID:52220008 {source="EFO:0003025", source="DOID:8761"} xref: SCTID:94149003 {source="DOID:8761"} xref: UMLS:C0023462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:44124"} xref: Wikipedia:Acute_megakaryoblastic_leukemia {source="EFO:0003025"} -is_a: MONDO:0015667 {source="Orphanet:518"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C3170", source="Orphanet:518"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003025", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6490" xsd:anyURI @@ -426213,6 +426645,7 @@ xref: SCTID:91861009 {source="DOID:9119", source="MONDO:equivalentTo"} xref: UMLS:C0023467 {source="MEDGEN:9730", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004643 {source="DOID:9119", source="MESH:D015470", source="MONDO:Redundant", source="NCIT:C3171"} ! myeloid leukemia is_a: MONDO:0005170 {source="EFO:0000222", source="MONDO:Redundant", source="NCIT:C3171/inferred", source="ONCOTREE:AML/inferred"} ! myeloid neoplasm +is_a: MONDO:0010643 {source="NCIT:C3171"} ! acute leukemia is_a: MONDO:0015756 {source="MONDO:Redundant", source="Orphanet:519"} ! myeloid hemopathy intersection_of: MONDO:0004643 ! myeloid leukemia intersection_of: has_characteristic PATO:0000389 ! acute @@ -426487,7 +426920,7 @@ xref: SCTID:393589007 {source="DOID:865"} xref: UMLS:C0042384 {source="MEDGEN:12054", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Wikipedia:Vasculitis {source="EFO:0006803"} is_a: MONDO:0000001 ! disease -is_a: MONDO:0005385 {source="Orphanet:52759"} ! vascular disorder +is_a: MONDO:0005385 {source="DOID:865", source="Orphanet:52759"} ! vascular disorder intersection_of: MONDO:0000001 ! disease intersection_of: disease_has_inflammation_site UBERON:0002049 ! vasculature relationship: has_characteristic MONDO:0021136 {source="MONDO:0019048"} ! rare @@ -426630,8 +427063,8 @@ xref: GARD:7148 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"} xref: icd11.foundation:352828432 {source="MONDO:equivalentTo"} xref: Orphanet:53698 {source="MONDO:equivalentTo"} -is_a: MONDO:0016195 {source="Orphanet:209185"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -is_a: MONDO:0019952 {source="Orphanet:53698"} ! congenital myopathy +is_a: MONDO:0016195 {source="Orphanet:209185", source="Orphanet:53698"} ! qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +is_a: MONDO:0019952 {source="DOID:0111267", source="Orphanet:53698"} ! congenital myopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7577 {source="Orphanet:53698"} ! MYH7 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI @@ -426755,6 +427188,7 @@ xref: SCTID:230247001 {source="MONDO:equivalentTo"} xref: UMLS:C0393541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98274"} is_a: MONDO:0020127 {source="Orphanet:53739"} ! hereditary peripheral neuropathy is_a: MONDO:0020128 {source="Orphanet:53739", source="Orphanet:53739/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! motor neuron disorder +is_a: MONDO:0024257 {source="Orphanet:53739"} ! hereditary motor neuron disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6845" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy" xsd:anyURI {source="GARD:0012683"} @@ -426983,7 +427417,7 @@ xref: SCTID:78058005 {source="EFO:0000762"} xref: UMLS:C0206669 {source="MEDGEN:61655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000385 {source="MONDO:Entailed"} ! benign digestive system neoplasm is_a: MONDO:0004972 {source="DOID:0050868", source="EFO:0000762", source="MESH:D018248", source="NCIT:C3758"} ! adenoma -is_a: MONDO:0024477 {source="Orphanet:54272"} ! liver and intrahepatic bile duct neoplasm +is_a: MONDO:0024477 {source="DOID:0050868", source="Orphanet:54272"} ! liver and intrahepatic bile duct neoplasm relationship: disease_has_location UBERON:0002107 {source="EFO:0000784"} ! liver relationship: has_characteristic MONDO:0021136 {source="MONDO:0017632"} ! rare @@ -427271,7 +427705,7 @@ xref: Orphanet:552 {source="DOID:0050524", source="MONDO:equivalentTo", source=" xref: SCTID:609561005 {source="MONDO:equivalentTo"} xref: UMLS:C0342276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87433"} is_a: MONDO:0005015 {source="MESH:C562772/inferred", source="MONDO:0015887-obsoleted", source="MONDO:Redundant", source="NCIT:C114769", source="Orphanet:552", source="Orphanet:552/inferred"} ! diabetes mellitus -is_a: MONDO:0015967 {source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes +is_a: MONDO:0015967 {source="Orphanet:552", source="https://doi.org/10.2337/dci20-0065", source="https://orcid.org/0000-0002-6601-2165"} ! monogenic diabetes is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015967"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI @@ -427452,7 +427886,7 @@ xref: OMIM:174800 {source="Orphanet:562/e", source="MONDO:equivalentTo", source= xref: Orphanet:562 {source="MONDO:equivalentTo"} xref: SCTID:726029005 {source="MONDO:equivalentTo"} xref: UMLS:C0242292 {source="MEDGEN:69164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1858", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0003847 {source="OMIM:174800"} ! hereditary disease is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-4142-7153"} ! skeletal dysplasia relationship: disease_has_feature MONDO:0015791 {source="Orphanet:562"} ! peripheral precocious puberty @@ -427830,7 +428264,7 @@ xref: UMLS:C0033788 {source="MEDGEN:10988", source="MONDO:equivalentTo", source= is_a: MONDO:0019248 {source="Orphanet:577"} ! mucolipidosis is_a: MONDO:0031422 {source="OMIM:252600"} ! familial mucolipidosis is_a: MONDO:0100122 {source="PMID:20301728", source="PMID:32651481"} ! GNPTAB-mucolipidosis -is_a: MONDO:0800088 {source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement +is_a: MONDO:0800088 {source="Orphanet:577", source="PMID:31633310"} ! lysosomal storage disease with skeletal involvement relationship: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome relationship: excluded_subClassOf MONDO:0005381 {source="https://orcid.org/0000-0001-5208-3432"} ! bone disorder relationship: has_characteristic MONDO:0021136 ! rare @@ -428347,7 +428781,7 @@ xref: OMIM:300842 {source="Orphanet:59306", source="Orphanet:59306/ntbt", source xref: Orphanet:59306 {source="MONDO:equivalentTo", source="OMIM:300842"} xref: SCTID:234411007 {source="MONDO:equivalentTo"} xref: UMLS:C0398568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:140765"} -is_a: MONDO:0016987 {source="Orphanet:59306"} ! neuroacanthocytosis +is_a: MONDO:0016987 {source="DOID:0112107", source="Orphanet:59306"} ! neuroacanthocytosis relationship: excluded_subClassOf MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia relationship: excluded_subClassOf MONDO:0003689 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hemolytic anemia relationship: excluded_subClassOf MONDO:0016337 {source="Orphanet:59306", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome associated with dilated cardiomyopathy @@ -428624,7 +429058,7 @@ xref: Orphanet:60030 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: SCTID:446263001 {source="DOID:0050466", source="MONDO:equivalentTo"} xref: UMLS:C2697932 {source="MEDGEN:395827", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000426 {source="DOID:0050466", source="MONDO:Redundant"} ! autosomal dominant disease -is_a: MONDO:0002254 {source="NCIT:C75006"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050466", source="NCIT:C75006"} ! syndromic disease is_a: MONDO:0005385 ! vascular disorder is_a: MONDO:0017310 {source="Orphanet:60030"} ! Marfan and Marfan-related disorder relationship: has_characteristic HP:0000006 {source="Orphanet:60030"} ! Autosomal dominant inheritance @@ -428849,6 +429283,7 @@ xref: MEDGEN:268851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8498 {source="DOID:6846", source="MONDO:equivalentTo"} xref: Orphanet:618 {source="MONDO:equivalentTo"} xref: UMLS:C1512419 {source="MEDGEN:268851", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0005105 {source="DOID:6846"} ! melanoma intersection_of: MONDO:0005105 ! melanoma intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: excluded_subClassOf MONDO:0015950 {source="Orphanet:618", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete inherited skin tumor @@ -428958,7 +429393,7 @@ xref: Orphanet:63 {source="DOID:10983", source="MONDO:equivalentTo"} xref: SCTID:399340005 {source="DOID:10983"} xref: SCTID:57333009 {source="DOID:10983"} xref: UMLS:C1567741 {source="MEDGEN:339209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34842"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:10983", source="MONDO:Redundant", source="NCIT:C34842"} ! syndromic disease is_a: MONDO:0005240 {source="https://orcid.org/0000-0001-5208-3432"} ! kidney disorder is_a: MONDO:0005334 {source="https://orcid.org/0000-0003-4546-6667"} ! hereditary nephritis relationship: excluded_subClassOf MONDO:0020237 {source="Orphanet:63", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete lens shape anomaly @@ -429178,8 +429613,8 @@ xref: Orphanet:636 {source="DOID:8712", source="MONDO:equivalentTo", source="OMI xref: SCTID:92824003 {source="MONDO:equivalentTo"} xref: UMLS:C0027831 {source="MEDGEN:18013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019755 ! developmental defect during embryogenesis -is_a: MONDO:0021060 {source="Wikipedia:RASopathy", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy -is_a: MONDO:0021061 {source="MESH:D009456", source="NCIT:C3273"} ! neurofibromatosis +is_a: MONDO:0021060 {source="Orphanet:636", source="Wikipedia:RASopathy", source="https://orcid.org/0000-0002-6601-2165"} ! RASopathy +is_a: MONDO:0021061 {source="DOID:0111253", source="MESH:D009456", source="NCIT:C3273"} ! neurofibromatosis is_a: MONDO:0021635 {source="Wikipedia:Neurocristopathy"} ! neurocristopathy is_a: MONDO:0042983 {source="MONDO:0020271-obsoleted", source="https://github.com/monarch-initiative/mondo/pull/2571/", source="https://orcid.org/0000-0001-5208-3432"} ! neurocutaneous syndrome relationship: disease_has_feature MONDO:0019289 {source="Orphanet:636"} ! hyperpigmentation of the skin @@ -429592,7 +430027,7 @@ xref: SCTID:193159008 {source="DOID:0050539"} xref: SCTID:65017003 {source="DOID:0050539"} xref: SCTID:715665006 {source="MONDO:equivalentTo"} xref: UMLS:C0270914 {source="MONDO:equivalentTo", source="MEDGEN:124378", source="MONDO:MEDGEN"} -is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease +is_a: MONDO:0015626 {source="DOID:0050539", source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease relationship: excluded_subClassOf MONDO:0015360 {source="Orphanet:64746", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete autosomal dominant hereditary axonal motor and sensory neuropathy [Term] @@ -429648,7 +430083,7 @@ xref: Orphanet:64749 {source="DOID:0050541", source="MONDO:equivalentTo"} xref: SCTID:715795005 {source="MONDO:equivalentTo"} xref: UMLS:C4082197 {source="MEDGEN:905419", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease +is_a: MONDO:0015626 {source="DOID:0050541", source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -429934,6 +430369,7 @@ xref: NORD:1855 {source="MONDO:NORD"} xref: ONCOTREE:WT {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="MONDO:equivalentTo"} xref: SCTID:302849000 {source="MONDO:equivalentTo"} +is_a: MONDO:0002367 {source="DOID:2154", source="NCIT:C40407"} ! kidney cancer is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor is_a: MONDO:0006295 {source="DOID:2154/inferred", source="DOID:5176/inferred", source="MONDO:Redundant", source="NCIT:C40407/inferred"} ! malignant urinary system neoplasm is_a: MONDO:0021163 {source="MONDO:Entailed", source="Orphanet:654"} ! kidney neoplasm @@ -430126,7 +430562,7 @@ xref: Orphanet:65753 {source="MONDO:equivalentTo"} xref: SCTID:398040009 {source="MONDO:equivalentTo"} xref: UMLS:C0751036 {source="MONDO:equivalentTo", source="MEDGEN:155486", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0015626 {source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease +is_a: MONDO:0015626 {source="DOID:0050538", source="https://orcid.org/0000-0002-4142-7153"} ! Charcot-Marie-Tooth disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -430811,7 +431247,7 @@ xref: SCTID:192976002 {source="DOID:678", source="MONDO:equivalentTo"} xref: SCTID:28978003 {source="DOID:678", source="MONDO:relatedTo"} xref: UMLS:C0038868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:21026"} is_a: MONDO:0002254 {source="NCIT:C85028"} ! syndromic disease -is_a: MONDO:0005395 ! movement disorder +is_a: MONDO:0005395 {source="DOID:678"} ! movement disorder is_a: MONDO:0005559 {source="MESH:D013494/inferred", source="MONDO:Redundant", source="NCIT:C85028", source="Orphanet:683/inferred"} ! neurodegenerative disease is_a: MONDO:0020257 {source="Orphanet:683"} ! supranuclear oculomotor palsy relationship: disease_arises_from_feature MONDO:0005559 ! neurodegenerative disease @@ -431139,7 +431575,7 @@ xref: Orphanet:68367 {source="MONDO:equivalentTo"} xref: SCTID:363205007 {source="DOID:655"} xref: SCTID:86095007 {source="DOID:655", source="MONDO:equivalentTo"} xref: UMLS:C0025521 {source="MEDGEN:6323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003847 {source="MESH:D008661", source="MONDO:Redundant", source="Orphanet:68367"} ! hereditary disease +is_a: MONDO:0003847 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="Orphanet:68367"} ! hereditary disease is_a: MONDO:0005066 {source="DOID:655", source="MESH:D008661", source="MONDO:Redundant", source="NCIT:C34816"} ! metabolic disease intersection_of: MONDO:0005066 ! metabolic disease intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -431529,7 +431965,7 @@ xref: GARD:16680 {source="MONDO:GARD"} xref: MEDGEN:400883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:69084 {source="MONDO:equivalentTo"} xref: UMLS:C1865951 {source="MEDGEN:400883", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019287 {source="Orphanet:69084"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111655", source="Orphanet:69084"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0019072 @@ -431588,7 +432024,7 @@ xref: Orphanet:69736 {source="MONDO:equivalentTo"} xref: SCTID:720460007 {source="MONDO:equivalentTo"} xref: UMLS:C4304058 {source="MEDGEN:929727", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 ! disease -is_a: MONDO:0011119 ! iridogoniodysgenesis +is_a: MONDO:0011119 {source="Orphanet:69736"} ! iridogoniodysgenesis relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare relationship: has_characteristic PATO:0000389 ! acute @@ -431718,6 +432154,7 @@ xref: Orphanet:70 {source="MONDO:equivalentTo"} xref: UMLS:C4024957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:870510"} is_a: MONDO:0001516 {source="https://orcid.org/0000-0002-2825-0621"} ! spinal muscular atrophy is_a: MONDO:0020127 {source="Orphanet:70"} ! hereditary peripheral neuropathy +is_a: MONDO:0024257 {source="Orphanet:70"} ! hereditary motor neuron disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy" xsd:anyURI {source="GARD:0004531"} [Term] @@ -433065,6 +433502,7 @@ xref: SCTID:59277005 {source="MONDO:equivalentTo", source="MONDO:preferredExtern xref: SCTID:76627001 {source="MONDO:equivalentTo"} xref: UMLS:C0043541 {source="MEDGEN:12207", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002041 {source="ICD10CM:B46", source="MESH:D020096", source="MONDO:Redundant", source="NCIT:C77212", source="Orphanet:73263"} ! fungal infectious disease +is_a: MONDO:0002312 {source="DOID:8485"} ! opportunistic mycosis is_a: MONDO:0005550 {source="EFO:0007380", source="NCIT:C77212/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:451507 ! Mucoromycotina @@ -433277,7 +433715,7 @@ xref: icd11.foundation:1305244529 {source="MONDO:equivalentTo"} xref: MEDGEN:748876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:743 {source="MONDO:equivalentTo"} xref: UMLS:C2584611 {source="MEDGEN:748876", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002304 {source="https://orcid.org/0000-0002-6601-2165"} ! protein S deficiency +is_a: MONDO:0002304 {source="DOID:0111905", source="https://orcid.org/0000-0002-6601-2165"} ! protein S deficiency is_a: MONDO:0100240 {source="MONDO:0016320-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! inherited thrombophilia [Term] @@ -433430,7 +433868,7 @@ xref: SCTID:37896002 {source="DOID:14497"} xref: SCTID:82500001 {source="MONDO:equivalentTo", source="DOID:14497"} xref: UMLS:C0043208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:53088"} is_a: MONDO:0003847 {source="MESH:C564736/inferred"} ! hereditary disease -is_a: MONDO:0800449 {source="DOID:14497", source="Orphanet:75233"} ! lysosomal acid lipase deficiency +is_a: MONDO:0800449 {source="DOID:14497", source="OMIM:620151", source="Orphanet:75233"} ! lysosomal acid lipase deficiency relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql relationship: excluded_subClassOf MONDO:0002561 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="MONDO:Redundant", source="NCIT:C61271", source="Orphanet:75233/inferred", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal storage disease relationship: excluded_subClassOf MONDO:0019245 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="Orphanet:75233/inferred", source="PMID:21502308", source="https://orcid.org/0000-0001-5208-3432"} ! lysosomal lipid storage disorder @@ -433467,7 +433905,7 @@ xref: Orphanet:275761 {source="OMIM:278000"} xref: Orphanet:75234 {source="MONDO:equivalentTo"} xref: SCTID:57218003 {source="MONDO:equivalentTo", source="DOID:14502"} xref: UMLS:C0008384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:40266"} -is_a: MONDO:0800449 {source="DOID:14502", source="Orphanet:75234"} ! lysosomal acid lipase deficiency +is_a: MONDO:0800449 {source="DOID:14502", source="OMIM:278000", source="Orphanet:75234"} ! lysosomal acid lipase deficiency relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6617 {source="OMIM:278000"} ! LIPA property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI @@ -433902,7 +434340,7 @@ xref: Orphanet:650063 {source="MONDO:equivalentTo"} xref: Orphanet:759 {source="MONDO:equivalentObsolete"} xref: SCTID:237816004 {source="MONDO:equivalentTo"} xref: UMLS:C0342543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90985"} -is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:759"} ! precocious puberty +is_a: MONDO:0000088 {source="MESH:C562787", source="Orphanet:650063", source="Orphanet:759"} ! precocious puberty intersection_of: MONDO:0000088 ! precocious puberty intersection_of: disease_disrupts GO:0032274 ! gonadotropin secretion relationship: excluded_subClassOf MONDO:0018561 {source="Orphanet:759", source="https://github.com/Orphanet/ORDO/issues/19", source="https://orcid.org/0000-0001-5208-3432"} ! precocious puberty in female @@ -434389,7 +434827,7 @@ xref: MESH:C564490 {source="MONDO:equivalentTo"} xref: OMIMPS:309530 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:equivalentTo", source="DOID:0050776"} xref: UMLS:C3501611 {source="MONDO:equivalentTo", source="MEDGEN:502019", source="MONDO:MEDGEN"} -is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:777"} ! non-syndromic intellectual disability +is_a: MONDO:0000509 {source="DOID:0050776", source="MONDO:Redundant", source="Orphanet:777"} ! non-syndromic intellectual disability is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability intersection_of: MONDO:0000509 ! non-syndromic intellectual disability intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -434725,6 +435163,7 @@ xref: SCTID:86907008 {source="MONDO:equivalentTo"} xref: UMLS:C0271693 {source="MEDGEN:543499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006573 {source="DOID:0080300/inferred", source="MONDO:Redundant", source="NCIT:C131089"} ! lipodystrophy is_a: MONDO:0020089 {source="MONDO:Redundant", source="Orphanet:79086"} ! acquired lipodystrophy +is_a: MONDO:0027766 {source="DOID:0080300"} ! generalized lipodystrophy intersection_of: MONDO:0027766 ! generalized lipodystrophy intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus @@ -435546,6 +435985,7 @@ xref: SCTID:44176004 {source="MONDO:equivalentTo", source="DOID:9265"} xref: UMLS:C0268512 {source="MEDGEN:541342", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004736 {source="DOID:9265", source="MONDO:Entailed", source="MONDO:Redundant"} ! inborn disorder of amino acid metabolism is_a: MONDO:0005066 {source="https://orcid.org/0000-0001-5208-3432"} ! metabolic disease +is_a: MONDO:0019189 {source="Orphanet:79181"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0000001 ! disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006547 ! L-histidine metabolic process @@ -435688,7 +436128,7 @@ xref: UMLS:C1832200 {source="MEDGEN:330407", source="MONDO:equivalentTo", source is_a: MONDO:0002254 {source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0005066 {source="Orphanet:79189"} ! metabolic disease is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy -is_a: MONDO:0019053 {source="Orphanet:79189"} ! peroxisomal disease +is_a: MONDO:0019053 {source="DOID:0080377", source="Orphanet:79189"} ! peroxisomal disease is_a: MONDO:0020127 {source="MONDO:0016133-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary peripheral neuropathy relationship: has_characteristic HP:0000007 {source="Orphanet:912"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015115"} ! rare @@ -435865,6 +436305,7 @@ xref: Orphanet:79197 {source="MONDO:equivalentTo"} xref: SCTID:116020001 {source="MONDO:equivalentTo"} xref: UMLS:C0342712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87452"} is_a: MONDO:0004736 {source="PMID:33340416"} ! inborn disorder of amino acid metabolism +is_a: MONDO:0019189 {source="Orphanet:79197"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0009081 ! branched-chain amino acid metabolic process relationship: excluded_subClassOf MONDO:0019189 {source="Orphanet:79197", source="https://orcid.org/0000-0001-5208-3432"} ! inborn disorder of amino acid and other organic acid metabolism @@ -436191,7 +436632,7 @@ xref: NORD:1315 {source="MONDO:NORD"} xref: Orphanet:79230 {source="MONDO:equivalentTo", source="DOID:0111034"} xref: SCTID:50855007 {source="MONDO:equivalentTo"} xref: UMLS:C0268060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82769"} -is_a: MONDO:0006507 {source="Orphanet:79230"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111034", source="Orphanet:79230"} ! hereditary hemochromatosis relationship: has_characteristic MONDO:0021136 {source="MONDO:0016363"} ! rare [Term] @@ -436372,7 +436813,7 @@ xref: MEDGEN:1772900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200137 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:79281 {source="MONDO:equivalentTo"} xref: UMLS:C5437471 {source="MEDGEN:1772900", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017779 {source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency +is_a: MONDO:0017779 {source="DOID:0112320", source="Orphanet:79281"} ! alpha-N-acetylgalactosaminidase deficiency [Term] id: MONDO:0019265 @@ -436737,6 +437178,7 @@ xref: MEDGEN:1843192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:161050 {source="MONDO:equivalentTo"} xref: Orphanet:79369 {source="MONDO:equivalentTo"} xref: UMLS:C5681477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843192"} +is_a: MONDO:0002884 {source="DOID:0080683"} ! nail disorder intersection_of: MONDO:0002884 ! nail disorder intersection_of: has_characteristic MONDO:0021128 ! has an isolated presentation intersection_of: has_characteristic MONDO:0021152 ! inherited @@ -437547,7 +437989,7 @@ xref: SCTID:36739006 {source="MONDO:equivalentTo"} xref: UMLS:C0263312 {source="MEDGEN:537812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder -is_a: MONDO:0006594 {source="PMID:22527297", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus +is_a: MONDO:0006594 {source="ICD10CM:L10.4", source="PMID:22527297", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus is_a: MONDO:0019337 {source="https://orcid.org/0000-0001-7941-2961"} ! autoimmune bullous skin disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI @@ -437578,7 +438020,7 @@ xref: SCTID:35154004 {source="MONDO:equivalentTo"} xref: UMLS:C0263313 {source="MEDGEN:75513", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder -is_a: MONDO:0006594 {source="PMID:24424192", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus +is_a: MONDO:0006594 {source="DOID:0080850", source="PMID:24424192", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0009-0001-6494-4831"} ! pemphigus is_a: MONDO:0019337 {source="PMID:29763004", source="https://orcid.org/0000-0001-7941-2961"} ! autoimmune bullous skin disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6747" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI @@ -438038,7 +438480,7 @@ xref: OMIMPS:210600 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:808 {source="MONDO:equivalentTo", source="DOID:0050569"} xref: SCTID:57917004 {source="MONDO:equivalentTo"} xref: UMLS:C0265202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78534"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125488"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050569", source="MONDO:Redundant", source="NCIT:C125488"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050569", source="MONDO:Redundant"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="Orphanet:808"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:210600"} ! inherited @@ -438264,7 +438706,7 @@ xref: OMIMPS:117550 {source="MONDO:equivalentObsolete", source="https://orcid.or xref: Orphanet:821 {source="OMIM:117550", source="DOID:14748", source="MONDO:equivalentTo"} xref: SCTID:75968004 {source="DOID:14748", source="MONDO:equivalentTo"} xref: UMLS:C0175695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:61232"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75019", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14748", source="MONDO:Redundant", source="NCIT:C75019", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:821"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016904 {source="Orphanet:821"} ! partial deletion of the long arm of chromosome 5 is_a: MONDO:0018230 {source="https://orcid.org/0000-0002-5002-8648"} ! skeletal dysplasia @@ -438417,7 +438859,7 @@ xref: Orphanet:828 {source="MONDO:equivalentTo"} xref: SCTID:78675000 {source="MONDO:equivalentTo"} xref: UMLS:C0265253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120521"} is_a: MONDO:0002081 ! musculoskeletal system disorder -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74984"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080046", source="MONDO:Redundant", source="NCIT:C74984"} ! syndromic disease is_a: MONDO:0016761 {source="Orphanet:828"} ! spondyloepiphyseal dysplasia is_a: MONDO:0020248 {source="Orphanet:828", source="https://orcid.org/0000-0001-5208-3432"} ! vitreoretinal degeneration relationship: disease_has_feature MONDO:0004603 ! collagenopathy @@ -438840,7 +439282,7 @@ xref: Orphanet:83465 {source="MONDO:equivalentTo"} xref: SCTID:91521000119104 {source="MONDO:equivalentTo", source="EFO:0005855"} xref: UMLS:C1456240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:781102"} is_a: MONDO:0003406 {source="EFO:0005855", source="ICD10CM:G47.419", source="MONDO:Redundant", source="Orphanet:83465"} ! sleep-wake disorder -is_a: MONDO:0021107 {source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy +is_a: MONDO:0021107 {source="Orphanet:83465", source="https://orcid.org/0000-0001-5208-3432"} ! narcolepsy relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain relationship: has_characteristic MONDO:0021136 {source="MONDO:0019045"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI @@ -438912,7 +439354,7 @@ xref: ONCOTREE:DSRCT {source="MONDO:equivalentTo"} xref: Orphanet:83469 {source="MONDO:equivalentTo"} xref: SCTID:128735004 {source="EFO:1000895"} xref: UMLS:C0281508 {source="MONDO:equivalentTo", source="MEDGEN:83833", source="MONDO:MEDGEN"} -is_a: MONDO:0006974 {source="NCIT:C8300"} ! small cell sarcoma +is_a: MONDO:0006974 {source="DOID:6785", source="NCIT:C8300"} ! small cell sarcoma is_a: MONDO:0018078 {source="NCIT:C8300", source="Orphanet:83469"} ! soft tissue sarcoma property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor" xsd:anyURI {source="GARD:0006265"} @@ -439215,6 +439657,7 @@ xref: UMLS:C0393639 {source="MEDGEN:98280", source="MONDO:equivalentTo", source= is_a: MONDO:0007179 {source="MESH:C535841/inferred"} ! autoimmune disease is_a: MONDO:0019956 {source="MESH:C535841", source="Orphanet:83601/inferred"} ! encephalitis is_a: MONDO:0020068 {source="Orphanet:83601"} ! postinfectious encephalitis +is_a: MONDO:0020640 {source="Orphanet:83601"} ! autoimmune encephalitis is_a: MONDO:0100029 {source="https://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy relationship: disease_arises_from_feature MONDO:0007699 ! Hashimoto thyroiditis relationship: excluded_subClassOf MONDO:0016593 {source="Orphanet:83601", source="https://orcid.org/0000-0001-5208-3432"} ! acquired ataxia @@ -439504,7 +439947,7 @@ xref: MEDGEN:836996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:84087 {source="MONDO:equivalentTo"} xref: SCTID:708127008 {source="MONDO:equivalentTo"} xref: UMLS:C3872695 {source="MEDGEN:836996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder +is_a: MONDO:0019722 {source="Orphanet:84087", source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:84087", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease [Term] @@ -440435,7 +440878,7 @@ xref: UMLS:C0268381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0016330 {source="Orphanet:85443"} ! non-familial hypertrophic cardiomyopathy is_a: MONDO:0016345 {source="Orphanet:85443"} ! non-familial restrictive cardiomyopathy -is_a: MONDO:0019065 {source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080933", source="MESH:C531616", source="Orphanet:85443"} ! amyloidosis relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85443", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -440467,7 +440910,7 @@ xref: SCTID:281034005 {source="MONDO:equivalentTo"} xref: UMLS:C3536715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:782429"} is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy -is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445"} ! amyloidosis +is_a: MONDO:0019065 {source="DOID:0080936", source="NCIT:C3818", source="Orphanet:85445"} ! amyloidosis relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:85445", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa" xsd:anyURI {source="GARD:0010560"} @@ -440878,7 +441321,7 @@ xref: ONCOTREE:APMF {source="MONDO:equivalentTo"} xref: Orphanet:86843 {source="MONDO:equivalentTo"} xref: SCTID:109991003 {source="MONDO:equivalentTo"} xref: UMLS:C0334674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87279"} -is_a: MONDO:0015667 {source="Orphanet:86843"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C4344", source="Orphanet:86843"} ! acute myeloid leukemia by FAB classification relationship: has_characteristic PATO:0000389 ! acute property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis" xsd:anyURI {source="GARD:0011907"} @@ -440905,7 +441348,7 @@ xref: NCIT:C9289 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: Orphanet:86845 {source="MONDO:equivalentTo"} xref: SCTID:445448008 {source="MONDO:equivalentTo"} xref: UMLS:C1292773 {source="MEDGEN:224861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018874 {source="NCIT:C9289"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="NCIT:C9289", source="Orphanet:86845"} ! acute myeloid leukemia relationship: excluded_subClassOf MONDO:0011118 {source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -440972,7 +441415,7 @@ xref: Orphanet:86849 {source="MONDO:equivalentTo"} xref: SCTID:307592006 {source="MONDO:equivalentTo"} xref: SCTID:69077002 {source="EFO:0003029"} xref: UMLS:C0023437 {source="MEDGEN:7314", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015667 {source="NCIT:C27753"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C27753", source="NCIT:C3164", source="Orphanet:86849"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003029", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -441051,7 +441494,7 @@ xref: ONCOTREE:BPLL {source="MONDO:equivalentTo"} xref: Orphanet:86852 {source="MONDO:equivalentTo"} xref: SCTID:277619001 {source="MONDO:equivalentTo"} xref: UMLS:C0475801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:105396"} -is_a: MONDO:0001023 {source="MESH:D054403", source="NCIT:C4753"} ! prolymphocytic leukemia +is_a: MONDO:0001023 {source="DOID:0081041", source="MESH:D054403", source="NCIT:C4753"} ! prolymphocytic leukemia is_a: MONDO:0004949 {source="NCIT:C4753", source="ONCOTREE:BPLL"} ! neoplasm of mature B-cells is_a: MONDO:0005402 {source="EFO:1000102", source="MESH:D054403/inferred", source="MONDO:Redundant", source="NCIT:C4753/inferred"} ! lymphoid leukemia is_a: MONDO:0017595 {source="Orphanet:86852"} ! aggressive B-cell non-Hodgkin lymphoma @@ -441290,7 +441733,7 @@ xref: Orphanet:86871 {source="MONDO:equivalentTo"} xref: SCTID:277545003 {source="MONDO:equivalentTo"} xref: SCTID:277567002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: UMLS:C2363142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:391707"} -is_a: MONDO:0001023 {source="MESH:D015461", source="NCIT:C4752"} ! prolymphocytic leukemia +is_a: MONDO:0001023 {source="DOID:0081042", source="MESH:D015461", source="NCIT:C4752"} ! prolymphocytic leukemia is_a: MONDO:0005169 {source="NCIT:C4752"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0005525 {source="MESH:D015461", source="MONDO:Redundant"} ! T-cell leukemia is_a: MONDO:0015760 {source="Orphanet:86871"} ! T-cell non-Hodgkin lymphoma @@ -441676,7 +442119,7 @@ xref: ONCOTREE:HS {source="MONDO:equivalentTo"} xref: Orphanet:86896 {source="MONDO:equivalentTo"} xref: SCTID:109988003 {source="MONDO:equivalentTo"} xref: UMLS:C0334663 {source="MEDGEN:137793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006247 {source="NCIT:C27349", source="Orphanet:86896/inferred"} ! histiocytic and dendritic cell neoplasm +is_a: MONDO:0006247 {source="DOID:0080915", source="NCIT:C27349", source="Orphanet:86896/inferred"} ! histiocytic and dendritic cell neoplasm [Term] id: MONDO:0019480 @@ -442201,7 +442644,7 @@ xref: Orphanet:886 {source="MONDO:equivalentTo", source="DOID:0050439"} xref: SCTID:57838006 {source="DOID:0050439"} xref: SCTID:73119000 {source="DOID:0050439"} xref: UMLS:C0271097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:78754"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85217", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050439", source="MONDO:Redundant", source="NCIT:C85217", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:0050439", source="MONDO:Redundant"} ! autosomal recessive disease relationship: has_characteristic HP:0000007 {source="Orphanet:886"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:276900"} ! inherited @@ -442235,6 +442678,7 @@ xref: OMIMPS:249500 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:88616 {source="MONDO:equivalentTo", source="DOID:0060308"} xref: UMLS:C5680181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826073"} is_a: MONDO:0000509 {source="MONDO:Redundant", source="Orphanet:88616"} ! non-syndromic intellectual disability +is_a: MONDO:0006025 {source="DOID:0060308"} ! autosomal recessive disease is_a: MONDO:0017706 {source="PMID:33340416"} ! disorder of carbohydrate transmembrane transport and absorption intersection_of: MONDO:0000509 ! non-syndromic intellectual disability intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -442271,7 +442715,7 @@ xref: OMIMPS:107250 {source="MONDO:equivalentTo", source="https://orcid.org/0000 xref: Orphanet:88632 {source="GARD:0010025", source="MONDO:equivalentTo"} xref: SCTID:65075004 {source="MONDO:equivalentTo"} xref: UMLS:C1862839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350766"} -is_a: MONDO:0005328 {source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder +is_a: MONDO:0005328 {source="DOID:0060648", source="https://orcid.org/0000-0002-4142-7153"} ! eye disorder is_a: MONDO:0021147 {source="https://orcid.org/0000-0002-4142-7153"} ! disorder of development or morphogenesis is_a: MONDO:0024458 {source="https://orcid.org/0000-0001-9310-0163"} ! disorder of visual system relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:88632", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic developmental defect of the eye @@ -443025,7 +443469,7 @@ xref: Orphanet:90038 {source="MONDO:equivalentTo"} xref: UMLS:C1856143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383843"} is_a: MONDO:0001549 ! hemolytic-uremic syndrome is_a: MONDO:0003664 {source="Orphanet:90038"} ! hemolytic anemia -is_a: MONDO:0034103 {source="https://orcid.org/0000-0001-5208-3432"} ! infection-related hemolytic uremic syndrome +is_a: MONDO:0034103 {source="Orphanet:90038", source="https://orcid.org/0000-0001-5208-3432"} ! infection-related hemolytic uremic syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0015911"} ! rare property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus" xsd:anyURI {source="GARD:0006241"} @@ -443789,7 +444233,7 @@ xref: Orphanet:90321 {source="OMIM:216400", source="MONDO:equivalentTo", source= xref: Orphanet:90322 {source="OMIM:216400", source="MONDO:directSiblingOf"} xref: Orphanet:90324 {source="OMIM:216400", source="MONDO:directSiblingOf"} xref: UMLS:C0751039 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155488"} -is_a: MONDO:0016006 {source="MONDO:Redundant", source="NCIT:C135725", source="Orphanet:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome +is_a: MONDO:0016006 {source="DOID:0080907", source="MONDO:Redundant", source="NCIT:C135725", source="Orphanet:191/btnt", source="Orphanet:90321"} ! Cockayne syndrome intersection_of: MONDO:0016006 ! Cockayne syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3439 ! ERCC8 relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:216400"} ! Autosomal recessive inheritance @@ -443824,7 +444268,7 @@ xref: Orphanet:90321 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: Orphanet:90322 {source="MONDO:equivalentTo", source="OMIM:133540"} xref: Orphanet:90324 {source="OMIM:133540", source="MONDO:directSiblingOf"} xref: UMLS:C0751038 {source="MEDGEN:155487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016006 {source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome +is_a: MONDO:0016006 {source="DOID:0080908", source="NCIT:C135726", source="Orphanet:191/btnt", source="Orphanet:90322"} ! Cockayne syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:133540", source="Orphanet:90322"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3438 {source="MONDO:mim2gene_medgen"} ! ERCC6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -443850,7 +444294,7 @@ xref: MESH:C562627 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} xref: SCTID:111388003 {source="MONDO:equivalentTo"} xref: UMLS:C0268350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120630"} -is_a: MONDO:0000426 {source="MONDO:Redundant"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0070142", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0100237 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Redundant", source="Orphanet:90348"} ! inherited cutis laxa intersection_of: MONDO:0100237 ! inherited cutis laxa intersection_of: has_characteristic HP:0000006 ! Autosomal dominant inheritance @@ -443882,6 +444326,7 @@ xref: Orphanet:90349 {source="MONDO:equivalentTo"} xref: Orphanet:90439 {source="DOID:0070144", source="MONDO:typo"} xref: PMID:19401719 {source="DOID:0070144"} xref: SCTID:254222002 {source="DOID:0070144", source="MONDO:equivalentTo"} +is_a: MONDO:0006025 {source="DOID:0070144"} ! autosomal recessive disease is_a: MONDO:0100237 {source="DOID:0070144", source="Orphanet:90349"} ! inherited cutis laxa relationship: excluded_subClassOf MONDO:0005385 {source="Orphanet:90349", source="https://orcid.org/0000-0001-5208-3432"} ! vascular disorder relationship: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -444183,6 +444628,7 @@ xref: MEDGEN:1843285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:124900 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="DOID:0050564", source="MONDO:equivalentTo"} xref: UMLS:C5779548 {source="MEDGEN:1843285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0050564"} ! autosomal dominant disease is_a: MONDO:0016297 {source="Orphanet:90635"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90635"} ! postlingual non-syndromic genetic hearing loss intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss @@ -444223,6 +444669,7 @@ xref: OMIMPS:220290 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: Orphanet:90635 {source="OMIM:607197", source="MONDO:directSiblingOf"} xref: Orphanet:90636 {source="DOID:0050565", source="MONDO:equivalentTo"} xref: UMLS:C1846647 {source="MEDGEN:337623", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0050565"} ! autosomal recessive disease is_a: MONDO:0016297 {source="Orphanet:90636"} ! prelingual non-syndromic genetic hearing loss is_a: MONDO:0016298 {source="Orphanet:90636"} ! postlingual non-syndromic genetic hearing loss intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss @@ -444516,7 +444963,7 @@ xref: ICD10CM:N03.6 {source="Orphanet:91137", source="Orphanet:91137/ntbt"} xref: MEDGEN:1842578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:91137 {source="MONDO:equivalentTo"} xref: UMLS:C5680195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842578"} -is_a: MONDO:0019722 {source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder +is_a: MONDO:0019722 {source="Orphanet:91137", source="https://orcid.org/0000-0001-5208-3432"} ! glomerular disorder relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:91137", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete secondary glomerular disease property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy" xsd:anyURI {source="GARD:0012741"} @@ -444606,7 +445053,7 @@ xref: SCTID:88469006 {source="MONDO:equivalentTo", source="DOID:905"} xref: UMLS:C0043459 {source="MONDO:equivalentTo", source="MEDGEN:21958", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="MONDO:0019609/inferred", source="MONDO:Redundant", source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin -is_a: MONDO:0019234 {source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder +is_a: MONDO:0019234 {source="DOID:905", source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder relationship: excluded_subClassOf MONDO:0005328 {source="https://orcid.org/0000-0001-5208-3432"} ! eye disorder relationship: excluded_subClassOf MONDO:0019743 {source="Orphanet:912", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete nephropathy secondary to a storage or other metabolic disease relationship: has_characteristic MONDO:0021136 ! rare @@ -445020,7 +445467,7 @@ xref: MEDGEN:419486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538173 {source="Orphanet:91385", source="MONDO:equivalentTo", source="Orphanet:91385/e"} xref: Orphanet:91385 {source="MONDO:equivalentTo"} xref: UMLS:C2931758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:419486"} -is_a: MONDO:0010481 {source="MESH:C538173"} ! angioedema +is_a: MONDO:0010481 {source="DOID:0080941", source="MESH:C538173"} ! angioedema intersection_of: MONDO:0010481 ! angioedema intersection_of: has_characteristic MONDO:0021141 ! acquired relationship: excluded_subClassOf MONDO:0019013 {source="Orphanet:91385", source="https://orcid.org/0000-0001-5208-3432"} ! non-histaminic angioedema @@ -445887,7 +446334,7 @@ xref: NCIT:C53971 {source="MONDO:equivalentTo"} xref: Orphanet:93277 {source="MONDO:equivalentTo"} xref: SCTID:89859004 {source="MONDO:equivalentTo"} xref: UMLS:C0016064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:42020"} -is_a: MONDO:0000845 {source="MESH:D005358", source="Orphanet:93277"} ! fibrous dysplasia +is_a: MONDO:0000845 {source="MESH:D005358", source="NCIT:C53971", source="Orphanet:93277"} ! fibrous dysplasia property_value: IAO:0000589 "monostotic fibrous dysplasia (disease)" xsd:string [Term] @@ -445917,7 +446364,7 @@ xref: SCTID:719172003 {source="MONDO:equivalentTo"} xref: UMLS:C2748515 {source="MEDGEN:411234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000226 {source="PMID:33340416", source="https://orcid.org/0000-0002-5002-8648"} ! mineral metabolism disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0050812", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0050812", source="Orphanet:93282", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8604 {source="MONDO:mim2gene_medgen"} ! PAPSS2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -445941,7 +446388,7 @@ xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NORD:1732 {source="MONDO:NORD"} xref: Orphanet:93284 {source="MONDO:equivalentTo"} xref: SCTID:51952004 {source="MONDO:equivalentTo"} -is_a: MONDO:0016761 {source="Orphanet:93284"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112284", source="Orphanet:93284"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0019668 @@ -446131,7 +446578,7 @@ xref: OMIMPS:271640 {source="MONDO:equivalentTo"} xref: Orphanet:93359 {source="GARD:0004982", source="MONDO:equivalentObsolete", source="DOID:0112197"} xref: SCTID:254100000 {source="MONDO:equivalentTo"} xref: UMLS:C0432243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98148"} -is_a: MONDO:0100510 {source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0100510 {source="DOID:0112197", source="https://orcid.org/0000-0001-8612-1062"} ! spondyloepimetaphyseal dysplasia relationship: excluded_subClassOf MONDO:0016761 {source="DOID:0112197", source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! spondyloepiphyseal dysplasia relationship: excluded_subClassOf MONDO:0017742 {source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete disorder of O-xylosylglycan synthesis relationship: excluded_subClassOf MONDO:0018292 {source="Orphanet:93359", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete congenital disorder of glycosylation-related bone disorder @@ -447538,8 +447985,8 @@ xref: NCIT:C27855 {source="MONDO:equivalentTo", source="DOID:0111152"} xref: Orphanet:570438 {source="MONDO:equivalentTo"} xref: Orphanet:93686 {source="MONDO:equivalentObsolete", source="DOID:0111152"} xref: UMLS:C1334815 {source="MEDGEN:233197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015157 {source="MONDO:Redundant", source="Orphanet:93686/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! human herpesvirus 8-related tumor -is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease +is_a: MONDO:0015157 {source="MONDO:Redundant", source="Orphanet:570438", source="Orphanet:93686/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! human herpesvirus 8-related tumor +is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:570438", source="Orphanet:93686"} ! Castleman disease relationship: seeAlso https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease {source="DOID:0111152"} [Term] @@ -448234,7 +448681,7 @@ xref: SCTID:192826000 {source="DOID:14464"} xref: SCTID:68977009 {source="DOID:14464"} xref: UMLS:C0027849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:10320"} is_a: MONDO:0002254 {source="NCIT:C94829"} ! syndromic disease -is_a: MONDO:0005071 {source="MONDO:0018753-obsoleted"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:14464", source="MONDO:0018753-obsoleted"} ! nervous system disorder property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome" xsd:anyURI {source="GARD:0007195"} [Term] @@ -451796,7 +452243,7 @@ xref: NANDO:2100234 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIMPS:117000 {source="MONDO:equivalentTo"} xref: Orphanet:97245 {source="MONDO:equivalentTo"} xref: UMLS:C0270960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:124381"} -is_a: MONDO:0005336 {source="DOID:0080100", source="MONDO:indirect"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0080100", source="DOID:0081337", source="MONDO:indirect"} ! myopathy relationship: excluded_subClassOf MONDO:0100167 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-0736-9199"} ! pulmonary disease, chronic obstructive, susceptibility to relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: has_characteristic MONDO:0021152 {source="OMIMPS:117000"} ! inherited @@ -454546,6 +454993,7 @@ xref: SCTID:25121006 {source="DOID:718"} xref: SCTID:413603009 {source="MONDO:equivalentTo", source="DOID:718"} xref: UMLS:C0002880 {source="MEDGEN:1918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000602 {source="DOID:718"} ! autoimmune disorder of blood +is_a: MONDO:0003664 {source="DOID:718"} ! hemolytic anemia intersection_of: MONDO:0003664 ! hemolytic anemia intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity disjoint_from: MONDO:0021559 ! non-autoimmune hemolytic anemia @@ -454743,6 +455191,7 @@ synonym: "X-linked syndromic intellectual disability" EXACT CLINGEN_LABEL [] xref: DOID:0060309 {source="MONDO:equivalentTo"} xref: OMIMPS:309510 {source="MONDO:equivalentTo", source="DOID:0060309"} xref: Orphanet:98464 {source="MONDO:equivalentObsolete"} +is_a: MONDO:0000508 {source="DOID:0060309"} ! syndromic intellectual disability is_a: MONDO:0100284 {source="https://clinicalgenome.org/affiliation/40006/", source="https://github.com/monarch-initiative/mondo/issues/2670"} ! X-linked intellectual disability intersection_of: MONDO:0000508 ! syndromic intellectual disability intersection_of: has_characteristic HP:0001417 ! X-linked inheritance @@ -457618,7 +458067,7 @@ xref: ONCOTREE:AM {source="MONDO:equivalentTo"} xref: Orphanet:98834 {source="MONDO:equivalentTo"} xref: SCTID:103691009 {source="EFO:0003028"} xref: UMLS:C1879321 {source="MONDO:equivalentTo", source="MEDGEN:361829", source="MONDO:MEDGEN"} -is_a: MONDO:0015667 {source="NCIT:C3250"} ! acute myeloid leukemia by FAB classification +is_a: MONDO:0015667 {source="NCIT:C3250", source="Orphanet:98834"} ! acute myeloid leukemia by FAB classification relationship: excluded_subClassOf MONDO:0011118 {source="EFO:0003028", source="https://orcid.org/0000-0001-5208-3432"} ! bilineal acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation" xsd:anyURI {source="GARD:0000527"} @@ -457797,6 +458246,7 @@ xref: ONCOTREE:ALCL {source="MONDO:equivalentTo"} xref: Orphanet:98841 {source="MONDO:equivalentTo"} xref: SCTID:277637000 {source="MONDO:equivalentTo"} xref: UMLS:C0206180 {source="MEDGEN:61533", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000430 {source="NCIT:C3720"} ! mature T-cell and NK-cell non-Hodgkin lymphoma is_a: MONDO:0005169 {source="EFO:0003032", source="NCIT:C3720/inferred"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0015760 {source="MESH:D017728", source="NCIT:C3720/inferred", source="Orphanet:98841"} ! T-cell non-Hodgkin lymphoma relationship: has_characteristic PATO:0002092 ! anaplastic @@ -457889,7 +458339,7 @@ xref: SCTID:397356009 {source="DOID:4660"} xref: SCTID:70910003 {source="MONDO:equivalentTo", source="DOID:4660"} xref: UMLS:C0272203 {source="MEDGEN:82897", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002724 {source="DOID:4660", source="MONDO:Redundant", source="NCIT:C9286/inferred"} ! mast cell neoplasm -is_a: MONDO:0016586 {source="DOID:4660", source="NCIT:C9286/inferred", source="ONCOTREE:ISM", source="Orphanet:98848"} ! systemic mastocytosis +is_a: MONDO:0016586 {source="DOID:4660", source="NCIT:C9286", source="NCIT:C9286/inferred", source="ONCOTREE:ISM", source="Orphanet:98848"} ! systemic mastocytosis [Term] id: MONDO:0020332 @@ -457928,7 +458378,7 @@ xref: SCTID:397015000 {source="DOID:4797", source="MONDO:equivalentTo"} xref: SCTID:397357000 {source="DOID:4797"} xref: UMLS:C1301365 {source="MEDGEN:226985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005570 {source="EFO:1000559", source="EFO:1000559/inferred"} ! hematologic disorder -is_a: MONDO:0016586 {source="Orphanet:98849"} ! systemic mastocytosis +is_a: MONDO:0016586 {source="DOID:4797", source="Orphanet:98849"} ! systemic mastocytosis [Term] id: MONDO:0020333 @@ -458052,7 +458502,7 @@ xref: NANDO:1200886 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: Orphanet:98869 {source="MONDO:equivalentTo"} xref: SCTID:59548005 {source="MONDO:equivalentTo"} xref: UMLS:C0271933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82891"} -is_a: MONDO:0019403 {source="Orphanet:98869"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="DOID:0111396", source="Orphanet:98869"} ! congenital dyserythropoietic anemia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -458480,7 +458930,7 @@ xref: icd11.foundation:1595154985 {source="MONDO:equivalentTo"} xref: MEDGEN:509041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98948 {source="MONDO:equivalentTo"} xref: UMLS:C0152454 {source="MEDGEN:509041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007410 {source="Orphanet:98948"} ! isolated cryptophthalmia +is_a: MONDO:0007410 {source="DOID:0111720", source="Orphanet:98948"} ! isolated cryptophthalmia relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -458499,7 +458949,7 @@ xref: icd11.foundation:162797488 {source="MONDO:equivalentTo"} xref: MEDGEN:1773866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98949 {source="MONDO:equivalentTo"} xref: UMLS:C5437887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773866"} -is_a: MONDO:0007410 {source="Orphanet:98949"} ! isolated cryptophthalmia +is_a: MONDO:0007410 {source="DOID:0111719", source="Orphanet:98949"} ! isolated cryptophthalmia [Term] id: MONDO:0020361 @@ -458515,7 +458965,7 @@ xref: icd11.foundation:407675981 {source="MONDO:equivalentTo"} xref: MEDGEN:1843099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98950 {source="MONDO:equivalentTo"} xref: UMLS:C5681641 {source="MEDGEN:1843099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007410 {source="Orphanet:98950"} ! isolated cryptophthalmia +is_a: MONDO:0007410 {source="DOID:0111718", source="Orphanet:98950"} ! isolated cryptophthalmia [Term] id: MONDO:0020362 @@ -458548,7 +458998,7 @@ xref: MEDGEN:573075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98958 {source="MONDO:equivalentTo"} xref: UMLS:C0339300 {source="MEDGEN:573075", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 ! disease -is_a: MONDO:0020212 ! superficial corneal dystrophy +is_a: MONDO:0020212 {source="Orphanet:98958"} ! superficial corneal dystrophy relationship: has_characteristic MONDO:0021136 {source="MONDO:0015120"} ! rare [Term] @@ -458935,6 +459385,7 @@ xref: OMIMPS:164400 {source="MONDO:equivalentTo"} xref: Orphanet:99 {source="MONDO:equivalentTo"} xref: SCTID:129609000 {source="DOID:1441", source="MONDO:equivalentTo"} xref: UMLS:C4087347 {source="MEDGEN:1684639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:1441"} ! autosomal dominant disease is_a: MONDO:0015547 ! hereditary dementia is_a: MONDO:0022687 {source="MONDO:Redundant"} ! cerebellar degeneration is_a: MONDO:0024237 ! inherited neurodegenerative disorder @@ -460969,7 +461420,7 @@ xref: ICD10CM:G71.1 {source="Orphanet:99735/attributed", source="Orphanet:99735/ xref: icd11.foundation:2133644550 {source="MONDO:equivalentTo"} xref: Orphanet:99735 {source="MONDO:equivalentTo"} xref: SCTID:715789009 {source="MONDO:equivalentTo"} -is_a: MONDO:0018959 ! potassium-aggravated myotonia +is_a: MONDO:0018959 {source="Orphanet:99735"} ! potassium-aggravated myotonia [Term] id: MONDO:0020483 @@ -461549,7 +462000,7 @@ xref: MEDGEN:1830482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603896 {source="MONDO:equivalentTo"} xref: Orphanet:99854 {source="MONDO:equivalentTo"} xref: UMLS:C5779972 {source="MEDGEN:1830482", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0800448 {source="OMIM:603896", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter +is_a: MONDO:0800448 {source="DOID:0070374", source="OMIM:603896", source="Orphanet:99854"} ! leukoencephalopathy with vanishing white matter intersection_of: MONDO:0800448 ! leukoencephalopathy with vanishing white matter intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3257 ! EIF2B1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6216" xsd:anyURI @@ -461663,7 +462114,7 @@ xref: NANDO:2200022 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: NCIT:C8644 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="MONDO:equivalentTo"} xref: UMLS:C0349636 {source="MEDGEN:83896", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004967 {source="NCIT:C8644", source="Orphanet:99860"} ! acute lymphoblastic leukemia +is_a: MONDO:0004967 {source="DOID:0080638", source="NCIT:C8644", source="Orphanet:99860"} ! acute lymphoblastic leukemia is_a: MONDO:0017595 {source="Orphanet:99860"} ! aggressive B-cell non-Hodgkin lymphoma relationship: has_characteristic PATO:0000389 ! acute @@ -461748,6 +462199,7 @@ xref: NCIT:C171031 {source="MONDO:equivalentTo"} xref: Orphanet:99869 {source="MONDO:equivalentTo"} xref: SCTID:716653001 {source="MONDO:equivalentTo"} xref: UMLS:C2210965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900590"} +is_a: MONDO:0006451 {source="NCIT:C171031"} ! thymic carcinoma is_a: MONDO:0018079 {source="Orphanet:99869"} ! thymic epithelial neoplasm intersection_of: MONDO:0002120 ! neuroendocrine carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus @@ -462261,7 +462713,7 @@ xref: NCIT:C3072 {source="MONDO:equivalentTo"} xref: Orphanet:99914 {source="MONDO:equivalentTo"} xref: SCTID:254867003 {source="MONDO:equivalentTo"} xref: UMLS:C0346178 {source="MEDGEN:83412", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021657 {source="NCIT:C3072/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! ovarian sex cord-stromal tumor +is_a: MONDO:0021657 {source="NCIT:C3072", source="NCIT:C3072/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! ovarian sex cord-stromal tumor relationship: excluded_subClassOf MONDO:0018172 {source="Orphanet:99914", source="https://orcid.org/0000-0001-5208-3432"} ! malignant sex cord stromal tumor of ovary property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma" xsd:anyURI {source="GARD:0009665"} @@ -462903,7 +463355,7 @@ xref: Orphanet:99970 {source="MONDO:equivalentTo"} xref: SCTID:404072004 {source="MONDO:equivalentTo", source="EFO:0003085"} xref: SCTID:67280001 {source="EFO:0003085"} xref: UMLS:C0205824 {source="MEDGEN:60028", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005060 {source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970"} ! liposarcoma +is_a: MONDO:0005060 {source="DOID:0080531", source="EFO:0003085", source="NCIT:C3704", source="ONCOTREE:DDLS", source="Orphanet:99970"} ! liposarcoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6959" xsd:anyURI [Term] @@ -464074,7 +464526,7 @@ xref: NCIT:C122414 {source="MONDO:equivalentTo"} xref: Orphanet:622014 {source="MONDO:equivalentTo"} xref: SCTID:95643007 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="NCIT:C122414"} ! autoimmune disease -is_a: MONDO:0019956 {source="NCIT:C122414"} ! encephalitis +is_a: MONDO:0019956 {source="NCIT:C122414", source="Orphanet:622014"} ! encephalitis intersection_of: MONDO:0019956 ! encephalitis intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -464564,6 +465016,7 @@ xref: OMIM:207410 {source="MONDO:equivalentTo"} xref: Orphanet:596008 {source="MONDO:equivalentTo"} xref: Orphanet:83 {source="OMIM:207410"} xref: UMLS:C2936791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:422448"} +is_a: MONDO:0008803 {source="DOID:0081290", source="Orphanet:596008"} ! Antley-Bixler syndrome intersection_of: MONDO:0008803 ! Antley-Bixler syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 ! FGFR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3689 {source="MONDO:mim2gene_medgen"} ! FGFR2 @@ -465329,7 +465782,7 @@ xref: MEDGEN:412662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128188 {source="MONDO:equivalentTo"} xref: OMIM:400044 {source="MONDO:equivalentTo"} xref: UMLS:C2748896 {source="MEDGEN:412662", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010765 ! 46,XY complete gonadal dysgenesis +is_a: MONDO:0010765 {source="DOID:0111778", source="OMIM:400044"} ! 46,XY complete gonadal dysgenesis intersection_of: MONDO:0010765 {source="MONDO:mim2gene_medgen"} ! 46,XY complete gonadal dysgenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen"} ! SRY @@ -465346,6 +465799,7 @@ xref: DOID:0081268 {source="MONDO:equivalentTo"} xref: MEDGEN:854500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:265450 {source="MONDO:equivalentTo"} xref: UMLS:C3887658 {source="MEDGEN:854500", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0009937 {source="DOID:0081268", source="OMIM:265450"} ! pulmonary venoocclusive disease intersection_of: MONDO:0009937 ! pulmonary venoocclusive disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 ! BMPR2 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1078 {source="MONDO:mim2gene_medgen"} ! BMPR2 @@ -465395,7 +465849,7 @@ xref: MEDGEN:336422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:274400 {source="MONDO:equivalentTo"} xref: Orphanet:95716 xref: UMLS:C1848805 {source="MEDGEN:336422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010132 {source="https://orcid.org/0000-0001-5208-3432"} ! familial thyroid dyshormonogenesis +is_a: MONDO:0010132 {source="DOID:0112185", source="https://orcid.org/0000-0001-5208-3432"} ! familial thyroid dyshormonogenesis intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 ! SLC5A5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11040 {source="MONDO:mim2gene_medgen"} ! SLC5A5 @@ -465413,7 +465867,7 @@ xref: DOID:0111573 {source="MONDO:equivalentTo"} xref: MEDGEN:348571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} xref: UMLS:C1860238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:348571"} -is_a: MONDO:0008686 ! isolated familial wooly hair disorder +is_a: MONDO:0008686 {source="DOID:0111573"} ! isolated familial wooly hair disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28929 {source="MONDO:mim2gene_medgen"} ! KRT74 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -465506,7 +465960,7 @@ xref: UMLS:C4551511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0000425 {source="MESH:C536761", source="MONDO:Entailed", source="MONDO:Redundant"} ! X-linked disease is_a: MONDO:0015194 {source="DOID:0060063", source="MESH:C536761", source="MONDO:Redundant", source="OMIM:300751", source="Orphanet:75563/inferred"} ! sideroblastic anemia is_a: MONDO:0017754 {source="Orphanet:75563"} ! inborn disorder of porphyrin metabolism -is_a: MONDO:0020099 {source="Orphanet:75563"} ! inherited sideroblastic anemia +is_a: MONDO:0020099 {source="OMIM:300751", source="Orphanet:75563"} ! inherited sideroblastic anemia intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_characteristic HP:0001417 ! X-linked inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/397 ! ALAS2 @@ -465581,7 +466035,7 @@ xref: MEDGEN:237128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:116860 {source="Orphanet:221061/e", source="MONDO:equivalentTo", source="Orphanet:221061"} xref: Orphanet:221061 {source="OMIM:116860"} xref: UMLS:C1366911 {source="MONDO:equivalentTo", source="MEDGEN:237128", source="MONDO:MEDGEN"} -is_a: MONDO:0031037 {source="MONDO:prototype"} ! famililal cerebral cavernous malformations +is_a: MONDO:0031037 {source="MONDO:prototype", source="OMIM:116860"} ! famililal cerebral cavernous malformations intersection_of: MONDO:0031037 ! famililal cerebral cavernous malformations intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1573 ! KRIT1 relationship: excluded_subClassOf MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed", source="MONDO:Redundant", source="https://orcid.org/0000-0001-5208-3432"} ! cerebral cavernous malformation @@ -465732,7 +466186,7 @@ xref: DOID:0070466 {source="MONDO:equivalentTo"} xref: MEDGEN:1830382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:115430 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} xref: UMLS:C5779776 {source="MEDGEN:1830382", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007275 {source="MONDO:prototype"} ! carpal tunnel syndrome +is_a: MONDO:0007275 {source="DOID:0070466", source="MONDO:prototype", source="OMIM:115430"} ! carpal tunnel syndrome intersection_of: MONDO:0007275 ! carpal tunnel syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 ! TTR relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12405 {source="MONDO:mim2gene_medgen"} ! TTR @@ -465799,7 +466253,7 @@ xref: OMIM:185800 {source="Orphanet:3250/e", source="DOID:0050788", source="MOND xref: Orphanet:3250 {source="OMIM:185800"} xref: UMLS:C3714899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811492"} is_a: MONDO:0000151 {source="DC-OMIM:185800"} ! symphalangism -is_a: MONDO:0008511 {source="MONDO:prototype"} ! proximal symphalangism +is_a: MONDO:0008511 {source="DOID:0080787", source="MONDO:prototype", source="OMIM:185800"} ! proximal symphalangism is_a: MONDO:0100521 {source="PMID:21538686", source="https://orcid.org/0000-0001-5208-3432"} ! NOG-related symphalangism spectrum disorder intersection_of: MONDO:0008511 ! proximal symphalangism intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7866 ! NOG @@ -465838,7 +466292,7 @@ xref: MEDGEN:347456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="GARD:0010824", source="Orphanet:189427/e"} xref: Orphanet:189427 {source="OMIM:219080", source="GARD:0010824"} xref: UMLS:C1857451 {source="MEDGEN:347456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009049 {source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia +is_a: MONDO:0009049 {source="DOID:0111623", source="MONDO:prototype"} ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 ! GNAS relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4392 {source="MONDO:mim2gene_medgen"} ! GNAS @@ -465894,7 +466348,7 @@ xref: MEDGEN:1631916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:156610 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} xref: Orphanet:2505 {source="OMIM:156610"} xref: UMLS:C4551592 {source="MEDGEN:1631916", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007990 {source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs +is_a: MONDO:0007990 {source="DOID:0112242", source="MONDO:prototype"} ! multiple benign circumferential skin creases on limbs intersection_of: MONDO:0007990 ! multiple benign circumferential skin creases on limbs intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 ! TUBB relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20778 {source="MONDO:mim2gene_medgen"} ! TUBB @@ -465938,7 +466392,7 @@ xref: OMIM:300291 {source="MONDO:equivalentTo", source="Orphanet:98813", source= xref: Orphanet:238468 {source="OMIM:300291"} xref: Orphanet:98813 {source="OMIM:300291"} xref: UMLS:C1846008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375787"} -is_a: MONDO:0010293 {source="MONDO:prototype"} ! ectodermal dysplasia and immune deficiency +is_a: MONDO:0010293 {source="DOID:0081078", source="MONDO:prototype", source="OMIM:300291"} ! ectodermal dysplasia and immune deficiency is_a: MONDO:0100162 {source="https://orcid.org/0000-0002-7437-8060"} ! IKBKG-related immunodeficiency with or without ectodermal dysplasia intersection_of: MONDO:0010293 ! ectodermal dysplasia and immune deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5961 ! IKBKG @@ -465961,7 +466415,7 @@ synonym: "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" EXACT CLINGEN_ xref: DOID:0070519 {source="MONDO:equivalentTo"} xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} xref: Orphanet:3006 {source="OMIM:266100"} -is_a: MONDO:0009945 {source="MONDO:prototype"} ! pyridoxine-dependent epilepsy +is_a: MONDO:0009945 {source="DOID:0070519", source="MONDO:prototype"} ! pyridoxine-dependent epilepsy intersection_of: MONDO:0009945 ! pyridoxine-dependent epilepsy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 ! ALDH7A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/877 {source="MONDO:mim2gene_medgen"} ! ALDH7A1 @@ -466058,7 +466512,7 @@ xref: MEDGEN:1676457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618469 {source="MONDO:equivalentTo"} xref: Orphanet:2990 {source="OMIM:618469"} xref: UMLS:C5193114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676457"} -is_a: MONDO:0020937 {source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome +is_a: MONDO:0020937 {source="OMIM:618469", source="https://orcid.org/0000-0002-6601-2165"} ! contractures, pterygia, and variable skeletal fusions syndrome intersection_of: MONDO:0017415 ! multiple pterygium syndrome intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7573 ! MYH3 @@ -466077,7 +466531,7 @@ xref: OMIM:210250 {source="MONDO:equivalentTo"} xref: Orphanet:101022 {source="OMIM:210250"} xref: Orphanet:2882 {source="OMIM:210250"} xref: UMLS:C2749759 {source="MEDGEN:440869", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia +is_a: MONDO:0008863 {source="OMIM:210250", source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia [Term] id: MONDO:0020748 @@ -466090,7 +466544,7 @@ xref: GARD:16372 {source="MONDO:GARD"} xref: MEDGEN:1684715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618666 {source="MONDO:equivalentTo"} xref: UMLS:C5231453 {source="MEDGEN:1684715", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008863 {source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia +is_a: MONDO:0008863 {source="OMIM:618666", source="https://orcid.org/0000-0001-5208-3432"} ! sitosterolemia [Term] id: MONDO:0020749 @@ -466103,7 +466557,7 @@ xref: MEDGEN:1648386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:221770 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="OMIM:221770"} xref: UMLS:C4721893 {source="MEDGEN:1648386", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009092 ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly +is_a: MONDO:0009092 {source="OMIM:221770"} ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -466116,7 +466570,7 @@ xref: MEDGEN:1648374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618193 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="OMIM:618193"} xref: UMLS:C4748657 {source="MEDGEN:1648374", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009092 ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly +is_a: MONDO:0009092 {source="OMIM:618193"} ! polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly [Term] id: MONDO:0020751 @@ -466127,7 +466581,7 @@ subset: rare xref: MEDGEN:1648282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618182 {source="MONDO:equivalentTo"} xref: UMLS:C4748569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648282"} -is_a: MONDO:0021272 ! inherited orthostatic hypotension +is_a: MONDO:0021272 {source="OMIM:618182"} ! inherited orthostatic hypotension [Term] id: MONDO:0020752 @@ -466205,7 +466659,7 @@ xref: MESH:C536890 {source="MONDO:equivalentTo"} xref: OMIM:141500 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:141500"} xref: UMLS:C1832884 {source="MEDGEN:331388", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000700 {source="OMIM:141500"} ! familial hemiplegic migraine +is_a: MONDO:0000700 {source="DOID:0111181", source="OMIM:141500"} ! familial hemiplegic migraine is_a: MONDO:0100254 {source="https://clinicalgenome.org/affiliation/40006/"} ! CACNA1A-related complex neurodevelopmental disorder intersection_of: MONDO:0000700 ! familial hemiplegic migraine intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1388 ! CACNA1A @@ -466264,6 +466718,7 @@ xref: NCIT:C2906 {source="MONDO:equivalentTo"} xref: UMLS:C2314897 {source="MEDGEN:378389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002529 {source="NCIT:C2906"} ! skin squamous cell carcinoma is_a: MONDO:0004641 {source="NCIT:C2906"} ! skin carcinoma in situ +is_a: MONDO:0004693 {source="NCIT:C2906"} ! squamous carcinoma in situ intersection_of: MONDO:0004693 ! squamous carcinoma in situ intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -466824,7 +467279,7 @@ xref: MEDGEN:1684668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:122100 {source="MONDO:equivalentTo"} xref: Orphanet:98954 {source="OMIM:122100"} xref: UMLS:C5231499 {source="MEDGEN:1684668", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007379 {source="OMIM:122100"} ! Meesmann corneal dystrophy +is_a: MONDO:0007379 {source="DOID:0080670", source="OMIM:122100"} ! Meesmann corneal dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -466854,7 +467309,7 @@ xref: MEDGEN:1684682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200219 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:164310 {source="MONDO:equivalentTo"} xref: UMLS:C5231388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684682"} -is_a: MONDO:0025193 {source="OMIM:164310"} ! oculopharyngodistal myopathy +is_a: MONDO:0025193 {source="DOID:0081297", source="OMIM:164310"} ! oculopharyngodistal myopathy [Term] id: MONDO:0020794 @@ -466893,7 +467348,7 @@ synonym: "SRS1" EXACT ABBREVIATION [] xref: MEDGEN:1718472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:180860 {source="MONDO:equivalentTo"} xref: UMLS:C5393125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718472"} -is_a: MONDO:0008394 {source="OMIM:618908"} ! Silver-Russell syndrome +is_a: MONDO:0008394 {source="OMIM:180860", source="OMIM:618908"} ! Silver-Russell syndrome [Term] id: MONDO:0020797 @@ -467038,7 +467493,7 @@ xref: NCIT:C7586 {source="MONDO:equivalentObsolete"} xref: UMLS:C0007117 {source="MEDGEN:2870", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004992 {source="NCIT:C7586"} ! cancer is_a: MONDO:0004993 {source="MESH:D002280", source="NCIT:C156767"} ! carcinoma -is_a: MONDO:0020799 {source="MESH:D002280", source="NCIT:C7586"} ! basal cell neoplasm +is_a: MONDO:0020799 {source="MESH:D002280", source="NCIT:C156767", source="NCIT:C7586"} ! basal cell neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_arises_from_structure CL:0000646 ! basal cell @@ -467452,7 +467907,7 @@ xref: DOID:0081225 {source="MONDO:equivalentTo"} xref: MEDGEN:1648279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618103 {source="MONDO:equivalentTo"} xref: UMLS:C4748192 {source="MEDGEN:1648279", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081225", source="OMIM:618103"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0020847 @@ -467481,6 +467936,7 @@ xref: MEDGEN:1648454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618107 {source="MONDO:equivalentTo"} xref: UMLS:C4748197 {source="MEDGEN:1648454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0017198 {source="OMIM:618107"} ! osteopetrosis +is_a: MONDO:0020645 {source="OMIM:618107"} ! autosomal dominant osteopetrosis relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance [Term] @@ -467493,7 +467949,7 @@ xref: DOID:0111952 {source="MONDO:equivalentTo"} xref: MEDGEN:1648306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618108 {source="MONDO:equivalentTo"} xref: UMLS:C4748212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648306"} -is_a: MONDO:0021094 ! immunodeficiency disease +is_a: MONDO:0021094 {source="OMIM:618108"} ! immunodeficiency disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -467511,7 +467967,7 @@ xref: GARD:22578 {source="MONDO:GARD"} xref: MEDGEN:1648401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618109 {source="MONDO:equivalentTo"} xref: UMLS:C4748219 {source="MEDGEN:1648401", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081226", source="OMIM:618109"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0020851 @@ -467525,7 +467981,7 @@ xref: GARD:16291 {source="MONDO:GARD"} xref: MEDGEN:1648394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618110 {source="MONDO:equivalentTo"} xref: UMLS:C4748224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648394"} -is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111913", source="OMIM:618110", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0020852 @@ -467537,7 +467993,7 @@ xref: DOID:0111922 {source="MONDO:equivalentTo"} xref: MEDGEN:1648419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618112 {source="MONDO:equivalentTo"} xref: UMLS:C4748234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648419"} -is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +is_a: MONDO:0004983 {source="OMIM:618112", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0020853 @@ -467567,6 +468023,7 @@ synonym: "SCNN1G Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:1648476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618114 {source="MONDO:equivalentTo"} xref: UMLS:C4748251 {source="MEDGEN:1648476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0008323 {source="OMIM:618114"} ! Liddle syndrome intersection_of: MONDO:0008323 ! Liddle syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 ! SCNN1G relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10602 {source="MONDO:mim2gene_medgen"} ! SCNN1G @@ -467583,7 +468040,7 @@ xref: GARD:16292 {source="MONDO:GARD"} xref: MEDGEN:1648444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618115 {source="MONDO:equivalentTo"} xref: UMLS:C4748253 {source="MEDGEN:1648444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111925", source="OMIM:618115", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0020856 @@ -467596,7 +468053,7 @@ synonym: "BONE MARROW FAILURE SYNDROME 4" EXACT [OMIM:618116] xref: MEDGEN:1648485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618116 {source="MONDO:equivalentTo"} xref: UMLS:C4748257 {source="MEDGEN:1648485", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000159 {source="https://orcid.org/0000-0001-5208-3432"} ! bone marrow failure syndrome +is_a: MONDO:0000159 {source="OMIM:618116", source="https://orcid.org/0000-0001-5208-3432"} ! bone marrow failure syndrome [Term] id: MONDO:0020857 @@ -467611,7 +468068,7 @@ xref: GARD:18043 {source="MONDO:GARD"} xref: MEDGEN:1648458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618117 {source="MONDO:equivalentTo"} xref: UMLS:C4748263 {source="MEDGEN:1648458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080499", source="OMIM:618117"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0020858 @@ -468197,7 +468654,7 @@ xref: GARD:4775 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:915/inclusion", source="Orphanet:915/ntbt"} xref: MedDRA:10067148 {source="Orphanet:915/e"} xref: Orphanet:915 {source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111824", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI @@ -468235,7 +468692,7 @@ xref: MEDGEN:277630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5908 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:423708008 {source="MONDO:equivalentTo"} xref: UMLS:C1335903 {source="MONDO:equivalentTo", source="MEDGEN:277630", source="MONDO:MEDGEN"} -is_a: MONDO:0000521 {source="MONDO:Redundant", source="NCIT:C5908"} ! salivary gland carcinoma +is_a: MONDO:0000521 {source="DOID:0081293", source="MONDO:Redundant", source="NCIT:C5908"} ! salivary gland carcinoma is_a: MONDO:0003036 {source="MONDO:Redundant", source="NCIT:C5908"} ! mucoepidermoid carcinoma intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland @@ -468541,7 +468998,7 @@ xref: NCIT:C120191 {source="MONDO:equivalentTo"} xref: Orphanet:99429 {source="MONDO:equivalentTo", source="OMIM:300068"} xref: SCTID:368851000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0936016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:183188"} -is_a: MONDO:0019154 {source="NCIT:C120191", source="Orphanet:99429"} ! androgen insensitivity syndrome +is_a: MONDO:0019154 {source="DOID:0080775", source="NCIT:C120191", source="Orphanet:99429"} ! androgen insensitivity syndrome property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome" xsd:anyURI {source="GARD:0010597"} [Term] @@ -468690,7 +469147,7 @@ xref: DOID:0080628 {source="MONDO:equivalentTo"} xref: MEDGEN:349263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:203650 {source="MONDO:equivalentTo"} xref: UMLS:C1859878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349263"} -is_a: MONDO:0008756 {source="OMIM:203650"} ! alopecia - intellectual disability syndrome +is_a: MONDO:0008756 {source="DOID:0080628", source="OMIM:203650"} ! alopecia - intellectual disability syndrome [Term] id: MONDO:0021036 @@ -468792,7 +469249,9 @@ xref: NCIT:C3305 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: ONCOTREE:PANCREAS {source="MONDO:equivalentTo"} xref: SCTID:126859007 {source="MONDO:equivalentTo"} xref: UMLS:C0030297 {source="MONDO:equivalentTo", source="MEDGEN:18279", source="MONDO:MEDGEN"} +is_a: MONDO:0002356 {source="NCIT:C3305"} ! pancreas disorder is_a: MONDO:0005070 {source="MESH:D010190/inferred", source="MONDO:Redundant", source="NCIT:C3305/inferred"} ! neoplasm +is_a: MONDO:0021223 {source="NCIT:C3305"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -468973,6 +469432,7 @@ xref: SCTID:404171008 {source="DOID:4658"} xref: SCTID:89796001 {source="DOID:4658"} xref: UMLS:C2242987 {source="MEDGEN:384518", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003079 {source="MONDO:Redundant", source="NCIT:C3217"} ! mastocytoma +is_a: MONDO:0005165 {source="DOID:4658", source="NCIT:C3217"} ! benign neoplasm intersection_of: MONDO:0003079 ! mastocytoma intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -469120,7 +469580,7 @@ xref: NCIT:C9312 {source="MONDO:equivalentTo"} xref: Orphanet:223727 {source="MONDO:equivalentTo"} xref: SCTID:448710000 {source="MONDO:equivalentTo"} xref: UMLS:C1704327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:352831"} -is_a: MONDO:0002129 {source="MONDO:Redundant", source="NCIT:C9312"} ! bone cancer +is_a: MONDO:0002129 {source="DOID:0080639", source="MONDO:Redundant", source="NCIT:C9312"} ! bone cancer is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C9312"} ! sarcoma is_a: MONDO:0019060 {source="NCIT:C9312/inferred", source="Orphanet:223727"} ! bone neoplasm intersection_of: MONDO:0005089 {source="NCIT:C9312"} ! sarcoma @@ -469211,7 +469671,7 @@ xref: Orphanet:79665 {source="OMIM:175100", source="MONDO:directSiblingOf"} xref: Orphanet:99818 {source="OMIM:175100", source="MONDO:directSiblingOf"} xref: UMLS:C2713442 {source="MEDGEN:398651", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016362 {source="MONDO:Redundant", source="Orphanet:220460/btnt"} ! attenuated familial adenomatous polyposis -is_a: MONDO:0021055 {source="DC-OMIM:175100", source="OMIM:175100"} ! classic familial adenomatous polyposis +is_a: MONDO:0021055 {source="DC-OMIM:175100", source="DOID:0080409", source="OMIM:175100"} ! classic familial adenomatous polyposis intersection_of: MONDO:0016362 ! attenuated familial adenomatous polyposis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 ! APC relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/583 {source="MONDO:mim2gene_medgen"} ! APC @@ -469500,6 +469960,7 @@ xref: NCIT:C3431 {source="MONDO:equivalentTo"} xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"} xref: SCTID:126879004 {source="MONDO:equivalentTo"} xref: UMLS:C0042076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52949"} +is_a: MONDO:0002118 {source="NCIT:C3431"} ! urinary system disorder is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3431/inferred"} ! neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001008 ! renal system @@ -469606,6 +470067,7 @@ xref: SCTID:387927001 {source="DOID:170"} xref: SCTID:93780007 {source="DOID:170"} xref: UMLS:C0153658 {source="MEDGEN:56319", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C3575"} ! endocrine gland neoplasm +is_a: MONDO:0004992 {source="DOID:170", source="NCIT:C3575"} ! cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002368 ! endocrine gland @@ -469890,7 +470352,7 @@ xref: MEDGEN:376943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:135700 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:135700"} xref: UMLS:C1851102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376943"} -is_a: MONDO:0007614 {source="MONDO:Redundant", source="OMIM:135700", source="Orphanet:45358"} ! congenital fibrosis of extraocular muscles +is_a: MONDO:0007614 {source="DOID:0081015", source="MONDO:Redundant", source="OMIM:135700", source="Orphanet:45358"} ! congenital fibrosis of extraocular muscles intersection_of: MONDO:0007614 ! congenital fibrosis of extraocular muscles intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19349 ! KIF21A relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -469981,7 +470443,7 @@ xref: MEDGEN:6605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3057 {source="MONDO:equivalentTo"} xref: SCTID:126792007 {source="MONDO:equivalentTo"} xref: UMLS:C0017570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:6605"} -is_a: MONDO:0002021 {source="MONDO:Redundant"} ! gingival disorder +is_a: MONDO:0002021 {source="MONDO:Redundant", source="NCIT:C3057"} ! gingival disorder is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3057/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001828 ! gingiva @@ -470131,7 +470593,7 @@ xref: MEDGEN:96586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:218330 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:218330"} xref: UMLS:C0432235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96586"} -is_a: MONDO:0009032 {source="MONDO:Redundant", source="OMIM:218330"} ! cranioectodermal dysplasia +is_a: MONDO:0009032 {source="DOID:0080803", source="MONDO:Redundant", source="OMIM:218330"} ! cranioectodermal dysplasia is_a: MONDO:0019691 {source="PMID:31633310"} ! short rib dysplasia intersection_of: MONDO:0009032 ! cranioectodermal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/13556 ! IFT122 @@ -470205,7 +470667,7 @@ xref: NCIT:C3863 {source="MONDO:equivalentTo", source="DOID:1626"} xref: SCTID:254848002 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="DOID:1626"} xref: SCTID:99571000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0238034 {source="MEDGEN:65944", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000620 {source="DOID:1626/inferred", source="MONDO:Redundant"} ! breast benign neoplasm +is_a: MONDO:0000620 {source="DOID:1626/inferred", source="MONDO:Redundant", source="NCIT:C3863"} ! breast benign neoplasm is_a: MONDO:0002060 {source="MONDO:Redundant", source="NCIT:C3863"} ! intraductal papilloma is_a: MONDO:0002061 {source="DOID:1626", source="NCIT:C3863"} ! intraductal papillary breast neoplasm intersection_of: MONDO:0002363 ! papilloma @@ -470417,7 +470879,7 @@ xref: NCIT:C84489 {source="MONDO:equivalentTo"} xref: Orphanet:619284 {source="MONDO:equivalentTo"} xref: SCTID:60380001 {source="MONDO:equivalentTo"} xref: UMLS:C0027404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:45001"} -is_a: MONDO:0003406 {source="https://orcid.org/0000-0001-5208-3432"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="DOID:8986", source="https://orcid.org/0000-0001-5208-3432"} ! sleep-wake disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7264" xsd:anyURI @@ -470461,6 +470923,7 @@ xref: NCIT:C6192 {source="MONDO:equivalentTo"} xref: ONCOTREE:IUP {source="MONDO:equivalentTo"} xref: UMLS:C1334282 {source="MEDGEN:233583", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002537 {source="MONDO:Entailed", source="NCIT:C6192/inferred"} ! inverted papilloma +is_a: MONDO:0003064 {source="NCIT:C6192"} ! inverted transitional cell papilloma is_a: MONDO:0003443 {source="MONDO:Redundant", source="NCIT:C6192/inferred"} ! papillary urothelial neoplasm is_a: MONDO:0004041 {source="NCIT:C6192"} ! urothelial papilloma intersection_of: MONDO:0002537 ! inverted papilloma @@ -470511,6 +470974,7 @@ xref: MEDGEN:12011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3427 {source="MONDO:equivalentTo"} xref: SCTID:126882009 {source="MONDO:equivalentTo"} xref: UMLS:C0041955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:12011"} +is_a: MONDO:0001926 {source="NCIT:C3427"} ! ureteral disorder is_a: MONDO:0021066 {source="MONDO:Redundant", source="NCIT:C3427/inferred"} ! urinary system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -470661,6 +471125,7 @@ xref: ONCOTREE:LUNG {source="MONDO:equivalentTo"} xref: UMLS:C0024121 {source="MEDGEN:7400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005070 {source="MESH:D008175/inferred", source="MONDO:Redundant", source="NCIT:C3200/inferred"} ! neoplasm is_a: MONDO:0005275 {source="MESH:D008175", source="MONDO:Redundant", source="NCIT:C3200"} ! lung disorder +is_a: MONDO:0020641 {source="NCIT:C3200"} ! respiratory tract neoplasm is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3200"} ! neoplasm of thorax intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002048 ! lung @@ -471570,7 +472035,7 @@ xref: MEDGEN:1805271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:595109 {source="MONDO:equivalentTo"} xref: SCTID:719907006 {source="MONDO:equivalentTo"} xref: UMLS:C5575746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805271"} -is_a: MONDO:0010979 {source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome +is_a: MONDO:0010979 {source="Orphanet:595109", source="https://ghr.nlm.nih.gov/condition/timothy-syndrome"} ! Timothy syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4746" xsd:anyURI [Term] @@ -471607,7 +472072,7 @@ xref: MEDGEN:928832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563581 {source="MONDO:equivalentTo"} xref: SCTID:721712002 {source="MONDO:equivalentTo"} xref: UMLS:C4303163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:928832"} -is_a: MONDO:0016264 {source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis +is_a: MONDO:0016264 {source="Orphanet:563581", source="https://orcid.org/0000-0002-6601-2165"} ! autoimmune hepatitis [Term] id: MONDO:0021177 @@ -472163,6 +472628,7 @@ xref: NCIT:C3081 {source="MONDO:equivalentTo"} xref: UMLS:C0018809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:9172"} is_a: MONDO:0005267 {source="MONDO:Redundant", source="NCIT:C3081"} ! heart disorder is_a: MONDO:0021350 {source="MONDO:Redundant", source="NCIT:C3081"} ! neoplasm of thorax +is_a: MONDO:0024757 {source="NCIT:C3081"} ! cardiovascular neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000948 ! heart @@ -472194,6 +472660,7 @@ xref: SCTID:126703006 {source="UMLS:C0040582"} xref: UMLS:C0040582 {source="MEDGEN:21602", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C3419"} ! tracheal disorder is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3419/inferred"} ! neoplasm +is_a: MONDO:0020641 {source="NCIT:C3419"} ! respiratory tract neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0003126 ! trachea @@ -472216,6 +472683,7 @@ xref: EFO:0003833 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:14216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C2907 {source="MONDO:equivalentTo"} xref: UMLS:C0006118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:14216"} +is_a: MONDO:0005560 {source="NCIT:C2907"} ! brain disorder is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C2907/inferred"} ! central nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000955 ! brain @@ -472324,6 +472792,7 @@ xref: MEDGEN:91099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5120 {source="MONDO:equivalentTo"} xref: SCTID:387891008 {source="MONDO:equivalentTo"} xref: UMLS:C0346330 {source="MEDGEN:91099", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0001563 {source="NCIT:C5120"} ! vestibulocochlear nerve disorder is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5120"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve @@ -472418,6 +472887,7 @@ xref: MEDGEN:7159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D015811 {source="MONDO:equivalentTo"} xref: NCIT:C3142 {source="MONDO:equivalentTo"} xref: UMLS:C0022079 {source="MEDGEN:7159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002289 {source="NCIT:C3142"} ! iris disorder is_a: MONDO:0021225 {source="MONDO:Redundant", source="NCIT:C3142"} ! uvea neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001769 ! iris @@ -472580,6 +473050,7 @@ xref: NCIT:C12311 {source="ONCOTREE:CERVIX"} xref: NCIT:C2940 {source="MONDO:equivalentTo"} xref: ONCOTREE:CERVIX {source="MONDO:equivalentTo"} xref: UMLS:C0007873 {source="MEDGEN:40201", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002256 {source="NCIT:C2940"} ! cervix disorder is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C2940"} ! tumor of uterus intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -472605,6 +473076,7 @@ xref: EFO:1000509 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:101180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4800 {source="MONDO:equivalentTo"} xref: UMLS:C0524801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:101180"} +is_a: MONDO:0005283 {source="NCIT:C4800"} ! retinal disorder is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C4800"} ! eye neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000966 ! retina @@ -472697,6 +473169,7 @@ xref: MEDGEN:11551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D013120 {source="MONDO:equivalentTo"} xref: NCIT:C3381 {source="MONDO:equivalentTo"} xref: UMLS:C0037930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11551"} +is_a: MONDO:0002545 {source="NCIT:C3381"} ! spinal cord disorder is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3381/inferred"} ! central nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002240 ! spinal cord @@ -472723,6 +473196,7 @@ xref: MEDGEN:87606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4652 {source="MONDO:equivalentTo"} xref: SCTID:277155005 {source="MONDO:equivalentTo"} xref: UMLS:C0349575 {source="MONDO:equivalentTo", source="MEDGEN:87606", source="MONDO:MEDGEN"} +is_a: MONDO:0002776 {source="NCIT:C4652"} ! external ear disorder is_a: MONDO:0021233 {source="MONDO:Redundant", source="NCIT:C4652"} ! ear neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -472825,6 +473299,7 @@ xref: MEDGEN:52778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3416 {source="MONDO:equivalentTo"} xref: SCTID:126778001 {source="MONDO:equivalentTo"} xref: UMLS:C0040411 {source="MEDGEN:52778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0001165 {source="NCIT:C3416"} ! tongue disorder is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3416/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001723 ! tongue @@ -473083,6 +473558,7 @@ xref: MESH:D016889 {source="MONDO:equivalentTo"} xref: NCIT:C3012 {source="MONDO:equivalentTo"} xref: SCTID:123844007 {source="MONDO:equivalentTo"} xref: UMLS:C0014170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8619"} +is_a: MONDO:0000931 {source="NCIT:C3012"} ! endometrial disorder is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3012/inferred"} ! tumor of uterus intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001295 ! endometrium @@ -473451,6 +473927,7 @@ xref: MEDGEN:91164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4668 {source="MONDO:equivalentTo"} xref: SCTID:278042005 {source="MONDO:equivalentTo"} xref: UMLS:C0349663 {source="MEDGEN:91164", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0003518 {source="NCIT:C4668"} ! mediastinum teratoma is_a: MONDO:0006298 {source="MONDO:Redundant", source="NCIT:C4668"} ! mediastinal malignant germ cell tumor intersection_of: MONDO:0003514 ! malignant teratoma intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -473587,6 +474064,7 @@ xref: MEDGEN:83854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4594 {source="MONDO:equivalentTo"} xref: SCTID:92559007 {source="MONDO:equivalentTo"} xref: UMLS:C0347126 {source="MEDGEN:83854", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0004663 {source="NCIT:C4594"} ! colon carcinoma in situ is_a: MONDO:0006029 {source="MONDO:Redundant", source="NCIT:C4594"} ! cecum carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0001153 ! caecum @@ -473821,6 +474299,7 @@ xref: UMLS:C1335139 {source="MEDGEN:235411", source="MONDO:equivalentTo", source is_a: MONDO:0004608 {source="MONDO:Entailed", source="NCIT:C6241/inferred"} ! oropharynx cancer is_a: MONDO:0004971 {source="MONDO:Redundant", source="NCIT:C6241/inferred"} ! adenoid cystic carcinoma is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C6241/inferred"} ! carcinoma of pharynx +is_a: MONDO:0044926 {source="NCIT:C6241"} ! oropharyngeal carcinoma intersection_of: MONDO:0004971 ! adenoid cystic carcinoma intersection_of: disease_has_location UBERON:0001729 ! oropharynx @@ -473988,6 +474467,7 @@ xref: NCIT:C9327 {source="MONDO:equivalentTo"} xref: SCTID:371964008 {source="MONDO:equivalentTo"} xref: UMLS:C0346402 {source="MEDGEN:83425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002817 {source="MONDO:Redundant", source="NCIT:C9327"} ! adrenal gland cancer +is_a: MONDO:0036591 {source="NCIT:C9327"} ! adrenal cortex neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex @@ -474038,6 +474518,7 @@ xref: NCIT:C9321 {source="MONDO:equivalentTo"} xref: SCTID:187692001 {source="MONDO:equivalentTo"} xref: UMLS:C0153392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56299"} is_a: MONDO:0005375 {source="MONDO:Redundant", source="NCIT:C9321"} ! nasopharyngeal neoplasm +is_a: MONDO:0005517 {source="NCIT:C9321"} ! pharynx cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001728 ! nasopharynx @@ -474058,6 +474539,7 @@ xref: MEDGEN:91049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4410 {source="MONDO:equivalentTo"} xref: SCTID:363485006 {source="MONDO:equivalentTo"} xref: UMLS:C0345614 {source="MONDO:equivalentTo", source="MEDGEN:91049", source="MONDO:MEDGEN"} +is_a: MONDO:0004669 {source="NCIT:C4410"} ! salivary gland cancer is_a: MONDO:0021370 {source="MONDO:Redundant", source="NCIT:C4410"} ! neoplasm of minor salivary gland intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland @@ -474310,6 +474792,7 @@ xref: UMLS:C0345555 {source="MEDGEN:87505", source="MONDO:equivalentTo", source= is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C8395/inferred"} ! head and neck carcinoma is_a: MONDO:0004611 {source="MONDO:Redundant", source="NCIT:C8395"} ! soft palate cancer is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C8395/inferred"} ! carcinoma of pharynx +is_a: MONDO:0044926 {source="NCIT:C8395"} ! oropharyngeal carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001733 ! soft palate @@ -474415,6 +474898,7 @@ xref: SCTID:274085008 {source="MONDO:equivalentTo"} xref: UMLS:C0558355 {source="MEDGEN:107535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006998 {source="MONDO:Redundant", source="NCIT:C4825"} ! tonsil cancer is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C4825/inferred"} ! carcinoma of pharynx +is_a: MONDO:0044926 {source="NCIT:C4825"} ! oropharyngeal carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002372 ! tonsil @@ -474514,6 +474998,7 @@ xref: SCTID:126900000 {source="MONDO:equivalentTo"} xref: UMLS:C0039590 {source="MEDGEN:52675", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002329 {source="MONDO:Redundant", source="NCIT:C3404"} ! testicular disorder is_a: MONDO:0006054 {source="MONDO:Entailed", source="NCIT:C3404/inferred"} ! reproductive system neoplasm +is_a: MONDO:0024582 {source="NCIT:C3404"} ! male reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0000473 ! testis @@ -474658,6 +475143,7 @@ xref: MEDGEN:4547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3028 {source="MONDO:equivalentTo"} xref: SCTID:126817006 {source="MONDO:equivalentTo"} xref: UMLS:C0014859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:4547"} +is_a: MONDO:0003749 {source="NCIT:C3028"} ! esophageal disorder is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C3028"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001043 ! esophagus @@ -475647,8 +476133,9 @@ xref: MEDGEN:141679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4782 {source="MONDO:equivalentTo"} xref: SCTID:92296004 {source="MONDO:equivalentTo"} xref: UMLS:C0496901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141679"} -is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm +is_a: MONDO:0000627 {source="DOID:60009", source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C4782/inferred"} ! pituitary gland disorder +is_a: MONDO:0017611 {source="NCIT:C4782"} ! pituitary tumor is_a: MONDO:0021451 {source="MONDO:Redundant", source="NCIT:C4782/inferred"} ! benign neoplasm of brain intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000007 ! pituitary gland @@ -475727,7 +476214,9 @@ xref: MEDGEN:57815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3636 {source="MONDO:equivalentTo"} xref: SCTID:92197001 {source="MONDO:equivalentTo"} xref: UMLS:C0154054 {source="MEDGEN:57815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000630 {source="DOID:0080617"} ! immune system organ benign neoplasm is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C3636/inferred"} ! lymph node disorder +is_a: MONDO:0024339 {source="NCIT:C3636"} ! lymph node neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000029 ! lymph node @@ -475849,6 +476338,7 @@ xref: MEDGEN:57576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3612 {source="MONDO:equivalentTo"} xref: SCTID:92428008 {source="MONDO:equivalentTo"} xref: UMLS:C0154007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57576"} +is_a: MONDO:0000625 {source="NCIT:C3612"} ! benign male reproductive system neoplasm is_a: MONDO:0021348 {source="MONDO:Redundant", source="NCIT:C3612"} ! neoplasm of testis intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000473 ! testis @@ -476116,6 +476606,7 @@ xref: MEDGEN:57435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3489 {source="MONDO:equivalentTo"} xref: SCTID:92286008 {source="MONDO:equivalentTo"} xref: UMLS:C0149627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57435"} +is_a: MONDO:0000625 {source="NCIT:C3489"} ! benign male reproductive system neoplasm is_a: MONDO:0002036 {source="MONDO:Redundant", source="NCIT:C3489/inferred"} ! penile disorder is_a: MONDO:0006895 {source="MONDO:Redundant", source="NCIT:C3489"} ! penile neoplasm intersection_of: MONDO:0005165 ! benign neoplasm @@ -476264,7 +476755,7 @@ xref: MEDGEN:57814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3630 {source="MONDO:equivalentTo"} xref: SCTID:92272009 {source="MONDO:equivalentTo"} xref: UMLS:C0154041 {source="MEDGEN:57814", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000627 {source="MONDO:Redundant"} ! benign endocrine neoplasm +is_a: MONDO:0000627 {source="DOID:60008", source="MONDO:Redundant"} ! benign endocrine neoplasm is_a: MONDO:0021360 {source="MONDO:Redundant", source="NCIT:C3630"} ! tumor of parathyroid gland intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland @@ -476415,6 +476906,7 @@ xref: MEDGEN:91126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4612 {source="MONDO:equivalentTo"} xref: SCTID:92264007 {source="MONDO:equivalentTo"} xref: UMLS:C0347284 {source="MONDO:equivalentTo", source="MEDGEN:91126", source="MONDO:MEDGEN"} +is_a: MONDO:0000385 {source="NCIT:C4612"} ! benign digestive system neoplasm is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4612"} ! pancreatic neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -477196,6 +477688,7 @@ xref: MEDGEN:146355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4902 {source="MONDO:equivalentTo"} xref: SCTID:92408009 {source="MONDO:equivalentTo"} xref: UMLS:C0686615 {source="MEDGEN:146355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0036696 {source="NCIT:C4902"} ! spleen neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -477412,6 +477905,7 @@ xref: MEDGEN:57577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3613 {source="MONDO:equivalentTo"} xref: SCTID:92308005 {source="MONDO:equivalentTo"} xref: UMLS:C0154009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57577"} +is_a: MONDO:0000625 {source="NCIT:C3613"} ! benign male reproductive system neoplasm is_a: MONDO:0021259 {source="MONDO:Redundant", source="NCIT:C3613"} ! prostate neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -477633,6 +478127,7 @@ xref: SCTID:92129006 {source="MONDO:equivalentTo"} xref: UMLS:C0345552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:138020"} is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4403/inferred"} ! head and neck neoplasm is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4403/inferred"} ! mouth disorder +is_a: MONDO:0021445 {source="NCIT:C4403"} ! benign neoplasm of oral cavity intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0003216 ! hard palate @@ -477702,6 +478197,7 @@ xref: MEDGEN:2572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C34417 {source="MONDO:equivalentTo"} xref: SCTID:92208007 {source="MONDO:equivalentTo"} xref: UMLS:C0004994 {source="MEDGEN:2572", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000631 {source="NCIT:C34417"} ! bone benign neoplasm is_a: MONDO:0005381 {source="MONDO:Entailed"} ! bone disorder is_a: MONDO:0005586 {source="MONDO:Redundant"} ! head and neck neoplasm is_a: MONDO:0021580 {source="MONDO:Redundant"} ! neoplasm of jaw @@ -478299,7 +478795,7 @@ xref: MEDGEN:6488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D009188 {source="UMLS:C0026976"} xref: SCTID:16631009 {source="MONDO:equivalentTo", source="UMLS:C0026976"} xref: UMLS:C0026976 {source="MEDGEN:6488", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002565 {source="https://orcid.org/0000-0001-5208-3432"} ! myelitis +is_a: MONDO:0002565 {source="DOID:0080743", source="https://orcid.org/0000-0001-5208-3432"} ! myelitis relationship: has_characteristic MONDO:0021136 {source="GARD:0007796"} ! rare property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4614" xsd:anyURI @@ -478804,7 +479300,7 @@ xref: NCIT:C170814 {source="MONDO:equivalentTo"} xref: NCIT:C4952 {source="ONCOTREE:PBT", source="MONDO:equivalentTo"} xref: ONCOTREE:PBT {source="MONDO:equivalentTo"} xref: UMLS:C0750974 {source="MEDGEN:152924", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021211 {source="NCIT:C4952"} ! brain neoplasm +is_a: MONDO:0021211 {source="NCIT:C170814", source="NCIT:C4952"} ! brain neoplasm [Term] id: MONDO:0021633 @@ -478892,7 +479388,7 @@ xref: Orphanet:94 {source="MONDO:equivalentTo"} xref: SCTID:189914005 {source="DOID:3069"} xref: SCTID:38713004 {source="DOID:3069"} xref: SCTID:99131000119108 {source="DOID:3069"} -is_a: MONDO:0021042 {source="NCIT:C6958"} ! glioma +is_a: MONDO:0021042 {source="NCIT:C6958", source="Orphanet:94"} ! glioma [Term] id: MONDO:0021637 @@ -478940,6 +479436,7 @@ synonym: "WHO grade II glioma" EXACT [NCIT:C132505] xref: MEDGEN:1391502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C132505 {source="MONDO:equivalentTo"} xref: UMLS:C4330050 {source="MONDO:equivalentTo", source="MEDGEN:1391502", source="MONDO:MEDGEN"} +is_a: MONDO:0021637 {source="NCIT:C132505"} ! low grade glioma intersection_of: MONDO:0021042 ! glioma intersection_of: has_characteristic MONDO:0024492 ! tumor grade 2, general grading system @@ -479186,7 +479683,7 @@ xref: MEDGEN:154644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4862 {source="MONDO:equivalentTo"} xref: ONCOTREE:SCST {source="MONDO:equivalentTo"} xref: UMLS:C0600113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:154644"} -is_a: MONDO:0006055 {source="MONDO:Redundant", source="NCIT:C4862"} ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="DOID:0080369", source="MONDO:Redundant", source="NCIT:C4862"} ! sex cord-stromal tumor is_a: MONDO:0021068 {source="MONDO:Redundant", source="NCIT:C4862"} ! ovarian neoplasm intersection_of: MONDO:0006055 ! sex cord-stromal tumor intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -482558,6 +483055,7 @@ xref: DOID:0080767 {source="MONDO:equivalentTo"} xref: GARD:9519 {source="MONDO:GARD"} xref: MEDGEN:299070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1608389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:299070"} +is_a: MONDO:0004496 {source="DOID:0080767"} ! myocarditis intersection_of: MONDO:0004496 ! myocarditis intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -485466,7 +485964,7 @@ xref: MESH:C548013 {source="MONDO:equivalentTo"} xref: NCIT:C129735 {source="MONDO:equivalentTo"} xref: SCTID:82800008 {source="MONDO:equivalentTo"} xref: UMLS:C0268813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82829"} -is_a: MONDO:0004782 {source="MESH:C548013", source="MONDO:Redundant", source="NCIT:C129735"} ! diabetes insipidus +is_a: MONDO:0004782 {source="DOID:0081058", source="MESH:C548013", source="MONDO:Redundant", source="NCIT:C129735"} ! diabetes insipidus is_a: MONDO:0040870 ! primary polydipsia intersection_of: MONDO:0004782 ! diabetes insipidus intersection_of: disease_arises_from_feature HP:0001959 ! Polydipsia @@ -486747,7 +487245,7 @@ xref: Orphanet:564003 {source="MONDO:equivalentTo"} xref: SCTID:28466007 {source="MONDO:equivalentTo"} xref: UMLS:C0264099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:75532"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease -is_a: MONDO:0018381 {source="PMID:30685014", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! osteochondrosis +is_a: MONDO:0018381 {source="Orphanet:564003", source="PMID:30685014", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! osteochondrosis relationship: disease_has_location UBERON:0001448 ! metatarsal bone relationship: excluded_subClassOf MONDO:0016086 {source="https://orcid.org/0000-0001-5208-3432"} ! osteochondritis of tarsal/metatarsal bone property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease" xsd:anyURI {source="GARD:0002380"} @@ -487013,7 +487511,7 @@ xref: DOID:0081057 {source="MONDO:equivalentTo"} xref: MEDGEN:444359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C548014 {source="MONDO:equivalentTo"} xref: UMLS:C2932666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:444359"} -is_a: MONDO:0004782 {source="MESH:C548014"} ! diabetes insipidus +is_a: MONDO:0004782 {source="DOID:0081057", source="MESH:C548014"} ! diabetes insipidus property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus" xsd:anyURI {source="GARD:0010702"} [Term] @@ -487922,7 +488420,7 @@ xref: SCTID:232457008 {source="MONDO:equivalentTo"} xref: UMLS:C0396072 {source="MEDGEN:96006", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002354 ! benign laryngeal neoplasm is_a: MONDO:0002363 {source="MESH:C537876"} ! papilloma -is_a: MONDO:0018955 ! recurrent respiratory papillomatosis +is_a: MONDO:0018955 {source="NCIT:C157733"} ! recurrent respiratory papillomatosis property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis" xsd:anyURI {source="GARD:0006864"} [Term] @@ -488177,7 +488675,7 @@ xref: MEDGEN:1780167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619340 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:619340"} xref: UMLS:C5543446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780167"} -is_a: MONDO:0100062 {source="OMIM:619340"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070377", source="OMIM:619340"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0023660 @@ -488223,7 +488721,7 @@ xref: DOID:0112335 {source="MONDO:equivalentTo"} xref: MEDGEN:1782493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619379 {source="MONDO:equivalentTo"} xref: UMLS:C5543570 {source="MEDGEN:1782493", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:619379"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112335", source="OMIM:619379"} ! spermatogenic failure [Term] id: MONDO:0023670 @@ -488237,7 +488735,7 @@ xref: DOID:0081009 {source="MONDO:equivalentTo"} xref: MEDGEN:934674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619471 {source="MONDO:equivalentTo"} xref: UMLS:C4310707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934674"} -is_a: MONDO:0015229 {source="OMIM:619471"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DOID:0081009", source="OMIM:619471"} ! Bardet-Biedl syndrome [Term] id: MONDO:0023671 @@ -488250,7 +488748,7 @@ xref: DOID:0081299 {source="MONDO:equivalentTo"} xref: MEDGEN:1794166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619473 {source="MONDO:equivalentTo"} xref: UMLS:C5561956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794166"} -is_a: MONDO:0025193 {source="OMIM:619473"} ! oculopharyngodistal myopathy +is_a: MONDO:0025193 {source="DOID:0081299", source="OMIM:619473"} ! oculopharyngodistal myopathy [Term] id: MONDO:0023679 @@ -488313,7 +488811,7 @@ xref: GARD:8594 {source="MONDO:GARD"} xref: MEDGEN:443950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:248600 {source="MONDO:equivalentTo"} xref: UMLS:C2930989 {source="MONDO:equivalentTo", source="MEDGEN:443950", source="MONDO:MEDGEN"} -is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease +is_a: MONDO:0009563 {source="OMIM:248600", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/986 {source="MONDO:mim2gene_medgen"} ! BCKDHA property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a" xsd:anyURI {source="GARD:0008594"} @@ -488333,7 +488831,7 @@ xref: GARD:8597 {source="MONDO:GARD"} xref: MEDGEN:443951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620698 {source="MONDO:equivalentTo"} xref: UMLS:C2930990 {source="MEDGEN:443951", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease +is_a: MONDO:0009563 {source="OMIM:620698", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/987 {source="MONDO:mim2gene_medgen"} ! BCKDHB property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b" xsd:anyURI {source="GARD:0008597"} @@ -488351,7 +488849,7 @@ xref: HGNC:2698 {source="GARD:0008596"} xref: MEDGEN:343337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620699 {source="MONDO:equivalentTo"} xref: UMLS:C1855371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343337"} -is_a: MONDO:0009563 {source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease +is_a: MONDO:0009563 {source="OMIM:620699", source="https://orcid.org/0000-0001-5208-3432"} ! maple syrup urine disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2698 {source="MONDO:mim2gene_medgen"} ! DBT property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2" xsd:anyURI {source="GARD:0008596"} @@ -489439,6 +489937,7 @@ xref: DOID:60006 {source="MONDO:equivalentTo"} xref: MEDGEN:195779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8537 {source="MONDO:equivalentTo"} xref: UMLS:C0685121 {source="MEDGEN:195779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000629 {source="DOID:60006"} ! cardiovascular organ benign neoplasm is_a: MONDO:0021080 {source="MONDO:Redundant", source="NCIT:C8537"} ! blood vessel neoplasm intersection_of: MONDO:0021080 ! blood vessel neoplasm intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -489594,6 +490093,7 @@ synonym: "vascular tumours" EXACT OMO:0003005 [] xref: MEDGEN:129202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7388 {source="MONDO:equivalentTo"} xref: UMLS:C0282607 {source="MEDGEN:129202", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0024757 {source="NCIT:C7388"} ! cardiovascular neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0007798 ! vascular system @@ -490693,6 +491193,7 @@ xref: NCIT:C6803 {source="MONDO:equivalentTo"} xref: UMLS:C1332528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:231435"} is_a: MONDO:0000646 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian benign neoplasm is_a: MONDO:0021657 {source="MONDO:Redundant", source="NCIT:C6803"} ! ovarian sex cord-stromal tumor +is_a: MONDO:0024988 {source="DOID:0080370"} ! sex cord-stromal benign neoplasm intersection_of: MONDO:0021657 ! ovarian sex cord-stromal tumor intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -491225,7 +491726,7 @@ xref: MEDGEN:215397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:233300 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:233300"} xref: UMLS:C0949595 {source="MEDGEN:215397", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009299 {source="OMIM:233300"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080493", source="OMIM:233300"} ! 46 XX gonadal dysgenesis relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3969 {source="MONDO:mim2gene_medgen"} ! FSHR [Term] @@ -491524,6 +492025,7 @@ xref: ONCOTREE:LIVER {source="MONDO:equivalentTo"} xref: SCTID:126851005 {source="MONDO:equivalentTo"} xref: UMLS:C1333976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232599"} is_a: MONDO:0002514 {source="DOID:916", source="MONDO:Redundant", source="NCIT:C7103", source="NCIT:C7106/inferred"} ! hepatobiliary neoplasm +is_a: MONDO:0005154 {source="DOID:916", source="NCIT:C7103"} ! liver disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002107 ! liver property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5166" xsd:anyURI @@ -491793,6 +492295,7 @@ synonym: "vascular tumour of the bone" EXACT OMO:0003005 [] xref: MEDGEN:234986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6478 {source="MONDO:equivalentTo"} xref: UMLS:C1336946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:234986"} +is_a: MONDO:0019060 {source="NCIT:C6478"} ! bone neoplasm is_a: MONDO:0024296 {source="MONDO:Entailed", source="NCIT:C6478"} ! vascular neoplasm intersection_of: MONDO:0024296 ! vascular neoplasm intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -491853,6 +492356,7 @@ xref: MEDGEN:474748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C96917 {source="MONDO:equivalentTo"} xref: UMLS:C3273115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:474748"} is_a: MONDO:0021253 {source="MONDO:Redundant", source="NCIT:C96917"} ! gallbladder neoplasm +is_a: MONDO:0024503 {source="NCIT:C96917"} ! digestive system neuroendocrine neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002110 ! gallbladder @@ -491899,7 +492403,7 @@ xref: MESH:C535650 {source="MONDO:equivalentTo"} xref: NCIT:C27721 {source="MONDO:equivalentTo"} xref: Orphanet:100092 {source="MONDO:equivalentTo"} xref: UMLS:C1333799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:232237"} -is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C27721"} ! neuroendocrine neoplasm +is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C27721", source="Orphanet:100092"} ! neuroendocrine neoplasm is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C27721"} ! digestive system neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system @@ -492026,7 +492530,7 @@ xref: MEDGEN:1636069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613339 {source="MONDO:equivalentTo"} xref: Orphanet:166412 {source="OMIM:613339"} xref: UMLS:C4551550 {source="MEDGEN:1636069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0013229 {source="OMIM:613339"} ! hot water reflex epilepsy +is_a: MONDO:0013229 {source="DOID:0081106", source="OMIM:613339"} ! hot water reflex epilepsy [Term] id: MONDO:0024512 @@ -492070,7 +492574,7 @@ xref: MEDGEN:887689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:162091 {source="MONDO:equivalentTo"} xref: Orphanet:93921 {source="OMIM:162091"} xref: UMLS:C4048809 {source="MEDGEN:887689", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008075 {source="OMIM:162091"} ! schwannomatosis +is_a: MONDO:0008075 {source="DOID:0070480", source="OMIM:162091"} ! schwannomatosis relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:162091"} ! Autosomal dominant inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -492194,7 +492698,7 @@ xref: OMIM:109730 {source="MONDO:equivalentTo", source="DOID:0080333"} xref: Orphanet:402075 {source="OMIM:109730"} xref: UMLS:C3887892 {source="MEDGEN:854610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003803 {source="MONDO:Redundant", source="OMIM:109730"} ! aortic valve disorder -is_a: MONDO:0007194 ! familial bicuspid aortic valve +is_a: MONDO:0007194 {source="DOID:0080333", source="OMIM:109730"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 ! NOTCH1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7881 {source="MONDO:mim2gene_medgen"} ! NOTCH1 @@ -492492,7 +492996,7 @@ xref: NANDO:1200408 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:202200 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:202200"} xref: UMLS:C4049650 {source="MEDGEN:885551", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008733 {source="MONDO:Redundant", source="OMIM:202200"} ! familial glucocorticoid deficiency +is_a: MONDO:0008733 {source="DOID:0080621", source="MONDO:Redundant", source="OMIM:202200"} ! familial glucocorticoid deficiency intersection_of: MONDO:0008733 ! familial glucocorticoid deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 ! MC2R relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6930 {source="MONDO:mim2gene_medgen"} ! MC2R @@ -492526,7 +493030,7 @@ xref: OMIM:211530 {source="MONDO:equivalentTo", source="Orphanet:572543"} xref: Orphanet:572543 {source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="OMIM:211530"} xref: UMLS:C0796274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163239"} -is_a: MONDO:0008891 {source="MONDO:indirect"} ! riboflavin transporter deficiency +is_a: MONDO:0008891 {source="DOID:0080785", source="MONDO:indirect", source="OMIM:211530", source="Orphanet:572543"} ! riboflavin transporter deficiency intersection_of: MONDO:0008891 ! riboflavin transporter deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 ! SLC52A3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16187 {source="MONDO:mim2gene_medgen"} ! SLC52A3 @@ -492636,7 +493140,7 @@ xref: MEDGEN:1644087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:222470 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="OMIM:222470"} xref: UMLS:C4551982 {source="MEDGEN:1644087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009105 {source="MONDO:Redundant", source="OMIM:222470"} ! trichohepatoenteric syndrome +is_a: MONDO:0009105 {source="DOID:0111415", source="MONDO:Redundant", source="OMIM:222470"} ! trichohepatoenteric syndrome intersection_of: MONDO:0009105 ! trichohepatoenteric syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 ! SKIC3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23639 {source="MONDO:mim2gene_medgen"} ! SKIC3 @@ -492733,7 +493237,7 @@ xref: MEDGEN:1640757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:254130 {source="MONDO:equivalentTo"} xref: Orphanet:45448 {source="OMIM:254130"} xref: UMLS:C4551973 {source="MEDGEN:1640757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009685 {source="MONDO:Redundant"} ! Miyoshi myopathy +is_a: MONDO:0009685 {source="DOID:0070199", source="MONDO:Redundant", source="OMIM:254130"} ! Miyoshi myopathy is_a: MONDO:0016145 ! qualitative or quantitative defects of dysferlin is_a: MONDO:0018949 {source="MONDO:Redundant", source="OMIM:254130"} ! distal myopathy intersection_of: MONDO:0009685 ! Miyoshi myopathy @@ -492871,7 +493375,7 @@ xref: MEDGEN:923943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="OMIM:305620"} xref: UMLS:C4281559 {source="MEDGEN:923943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015942 {source="MONDO:Redundant", source="OMIM:305620"} ! frontometaphyseal dysplasia +is_a: MONDO:0015942 {source="DOID:0111786", source="MONDO:Redundant", source="OMIM:305620"} ! frontometaphyseal dysplasia is_a: MONDO:0019690 {source="PMID:31633310"} ! filamin-related bone disorder intersection_of: MONDO:0015942 ! frontometaphyseal dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3754 ! FLNA @@ -492937,7 +493441,7 @@ xref: MEDGEN:163210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:309801 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="OMIM:309801"} xref: UMLS:C0796070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:163210"} -is_a: MONDO:0010672 {source="MONDO:Redundant", source="OMIM:309801"} ! linear skin defects with multiple congenital anomalies +is_a: MONDO:0010672 {source="DOID:0111808", source="MONDO:Redundant", source="OMIM:309801"} ! linear skin defects with multiple congenital anomalies intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4837 ! HCCS relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -492965,7 +493469,7 @@ xref: MEDGEN:1634824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600462 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:600462"} xref: UMLS:C4551958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634824"} -is_a: MONDO:0000863 {source="MONDO:0024553/inferred", source="MONDO:Redundant", source="OMIM:600462"} ! myopathy, lactic acidosis, and sideroblastic anemia +is_a: MONDO:0000863 {source="DOID:0111185", source="MONDO:0024553/inferred", source="MONDO:Redundant", source="OMIM:600462"} ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: MONDO:0000863 ! myopathy, lactic acidosis, and sideroblastic anemia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 ! PUS1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15508 {source="MONDO:mim2gene_medgen"} ! PUS1 @@ -492986,7 +493490,7 @@ xref: MEDGEN:463405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600721 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="OMIM:600721"} xref: UMLS:C3152055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463405"} -is_a: MONDO:0010924 {source="MONDO:Redundant", source="OMIM:600721"} ! D-2-hydroxyglutaric aciduria +is_a: MONDO:0010924 {source="DOID:0111351", source="MONDO:Redundant", source="OMIM:600721"} ! D-2-hydroxyglutaric aciduria intersection_of: MONDO:0010924 ! D-2-hydroxyglutaric aciduria intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 ! D2HGDH relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28358 {source="MONDO:mim2gene_medgen"} ! D2HGDH @@ -493012,7 +493516,7 @@ xref: OMIM:604004 {source="MONDO:equivalentTo"} xref: Orphanet:2478 {source="OMIM:604004"} xref: UMLS:C5779875 {source="MEDGEN:1826136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000137 {source="MONDO:Redundant", source="OMIM:604004"} ! leukoencephalopathy, megalencephalic -is_a: MONDO:0011391 {source="https://orcid.org/0000-0001-5208-3432"} ! megalencephalic leukoencephalopathy with subcortical cysts +is_a: MONDO:0011391 {source="DOID:0080316", source="https://orcid.org/0000-0001-5208-3432"} ! megalencephalic leukoencephalopathy with subcortical cysts property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -493035,7 +493539,7 @@ xref: NCIT:C161005 {source="MONDO:equivalentTo"} xref: OMIM:604364 {source="MONDO:equivalentTo"} xref: Orphanet:98820 {source="OMIM:604364"} xref: UMLS:C4551983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1641798"} -is_a: MONDO:0020310 {source="MONDO:Redundant", source="OMIM:604364"} ! familial focal epilepsy with variable foci +is_a: MONDO:0020310 {source="DOID:0081421", source="MONDO:Redundant", source="OMIM:604364"} ! familial focal epilepsy with variable foci intersection_of: MONDO:0020310 ! familial focal epilepsy with variable foci intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 ! DEPDC5 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18423 {source="MONDO:mim2gene_medgen"} ! DEPDC5 @@ -493265,7 +493769,7 @@ xref: MEDGEN:482364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614418 {source="MONDO:equivalentTo"} xref: Orphanet:165805 {source="OMIM:614418"} xref: UMLS:C3280734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482364"} -is_a: MONDO:0000032 {source="MONDO:Redundant", source="OMIM:614418"} ! febrile seizures, familial +is_a: MONDO:0000032 {source="DOID:0111308", source="MONDO:Redundant", source="OMIM:614418"} ! febrile seizures, familial is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-9310-0163"} ! nervous system disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17245 {source="MONDO:mim2gene_medgen"} ! CPA6 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -493318,7 +493822,7 @@ xref: OMIM:615438 {source="MONDO:equivalentTo", source="Orphanet:370088", source xref: Orphanet:370088 {source="MONDO:equivalentTo", source="OMIM:615438"} xref: UMLS:C3809522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815852"} is_a: MONDO:0000001 {source="Orphanet:370088"} ! disease -is_a: MONDO:0000023 {source="DC-OMIM:615438", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure +is_a: MONDO:0000023 {source="DC-OMIM:615438", source="DOID:0080717", source="MONDO:Redundant", source="OMIM:615438"} ! infantile liver failure intersection_of: MONDO:0000023 ! infantile liver failure intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6512 ! LARS1 relationship: has_characteristic MONDO:0021136 {source="MONDO:0015114"} ! rare @@ -493420,7 +493924,7 @@ xref: OMIMPS:192600 {source="MONDO:equivalentTo"} xref: Orphanet:155 {source="MONDO:equivalentObsolete"} xref: SCTID:471885006 {source="MONDO:equivalentTo"} xref: UMLS:C0949658 {source="MEDGEN:183649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005045 {source="MESH:D024741", source="MONDO:Redundant", source="NCIT:C84773"} ! hypertrophic cardiomyopathy +is_a: MONDO:0005045 {source="DOID:0080326", source="MESH:D024741", source="MONDO:Redundant", source="NCIT:C84773"} ! hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_characteristic MONDO:0021152 ! inherited relationship: has_characteristic MONDO:0021152 {source="OMIMPS:192600"} ! inherited @@ -493820,8 +494324,8 @@ xref: DOID:0080524 {source="MONDO:equivalentTo"} xref: MEDGEN:309935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27380 {source="MONDO:equivalentTo"} xref: UMLS:C1704228 {source="MEDGEN:309935", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C27380"} ! adenocarcinoma -is_a: MONDO:0015075 {source="MONDO:Redundant", source="NCIT:C27380"} ! thyroid gland carcinoma +is_a: MONDO:0004970 {source="DOID:0080524", source="MONDO:Redundant", source="NCIT:C27380"} ! adenocarcinoma +is_a: MONDO:0015075 {source="DOID:0080524", source="MONDO:Redundant", source="NCIT:C27380"} ! thyroid gland carcinoma is_a: MONDO:0021069 {source="NCIT:C27380"} ! malignant endocrine neoplasm intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -494029,7 +494533,7 @@ xref: MEDGEN:1632429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4867 {source="MONDO:equivalentTo"} xref: SCTID:269469005 {source="MONDO:equivalentTo"} xref: UMLS:C4551686 {source="MEDGEN:1632429", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004992 ! cancer +is_a: MONDO:0004992 {source="NCIT:C4867"} ! cancer is_a: MONDO:0006424 {source="NCIT:C4867"} ! soft tissue neoplasm [Term] @@ -494182,7 +494686,7 @@ xref: MESH:D052878 {source="https://orcid.org/0000-0003-1967-3726", source="MOND xref: NCIT:C114688 {source="MONDO:equivalentTo"} xref: SCTID:95566004 {source="MONDO:equivalentTo"} xref: UMLS:C0451641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:141536"} -is_a: MONDO:0002118 {source="NCIT:C114688/inferred"} ! urinary system disorder +is_a: MONDO:0002118 {source="DOID:0080653", source="NCIT:C114688/inferred"} ! urinary system disorder [Term] id: MONDO:0024648 @@ -494290,6 +494794,7 @@ xref: NCIT:C3375 {source="MONDO:equivalentTo"} xref: SCTID:126538005 {source="MONDO:equivalentTo"} xref: UMLS:C0037305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:11457"} is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3375"} ! head and neck neoplasm +is_a: MONDO:0024654 {source="NCIT:C3375"} ! skull disorder intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0003129 ! skull @@ -494506,6 +495011,7 @@ xref: NCIT:C7341 {source="MONDO:equivalentTo"} xref: UMLS:C0345981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:83395"} is_a: MONDO:0021440 {source="MONDO:Redundant", source="NCIT:C7341"} ! benign neoplasm of skin is_a: MONDO:0021634 {source="MONDO:Redundant", source="NCIT:C7341"} ! epithelial skin neoplasm +is_a: MONDO:0036976 {source="NCIT:C7341"} ! benign epithelial neoplasm intersection_of: MONDO:0021634 ! epithelial skin neoplasm intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -494595,6 +495101,7 @@ xref: NCIT:C27730 {source="MONDO:equivalentTo"} xref: UMLS:C1333015 {source="MEDGEN:232073", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002730 {source="NCIT:C27730"} ! childhood kidney neoplasm is_a: MONDO:0019004 {source="NCIT:C27730"} ! kidney Wilms tumor +is_a: MONDO:0036511 {source="NCIT:C27730"} ! childhood malignant kidney neoplasm [Term] id: MONDO:0024677 @@ -494753,6 +495260,7 @@ synonym: "mixed epithelial stromal tumour of the kidney, malignant" EXACT OMO:00 xref: MEDGEN:233156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C37265 {source="MONDO:equivalentTo"} xref: UMLS:C1334602 {source="MEDGEN:233156", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002367 {source="NCIT:C37265"} ! kidney cancer is_a: MONDO:0002386 {source="MONDO:Redundant", source="NCIT:C37265"} ! mixed epithelial stromal tumor of the kidney is_a: MONDO:0005853 {source="MONDO:Redundant", source="NCIT:C37265"} ! malignant mixed neoplasm intersection_of: MONDO:0002386 ! mixed epithelial stromal tumor of the kidney @@ -494780,6 +495288,7 @@ xref: MEDGEN:113161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3829 {source="MONDO:equivalentTo"} xref: UMLS:C0221289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:113161"} is_a: MONDO:0002528 {source="MONDO:Redundant", source="NCIT:C3829"} ! synovium neoplasm +is_a: MONDO:0044335 {source="NCIT:C3829"} ! benign soft tissue neoplasm intersection_of: MONDO:0002528 ! synovium neoplasm intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -494877,7 +495386,7 @@ xref: DOID:0070422 {source="MONDO:equivalentTo"} xref: MEDGEN:1803486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301076 {source="MONDO:equivalentTo"} xref: UMLS:C5676881 {source="MEDGEN:1803486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020119 {source="OMIM:301076", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0070422", source="OMIM:301076", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI [Term] @@ -495102,6 +495611,7 @@ synonym: "secondary carcinoma" EXACT [NCIT:C36310] xref: MEDGEN:88450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36310 {source="MONDO:equivalentTo"} xref: UMLS:C0085668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:88450"} +is_a: MONDO:0004993 {source="NCIT:C36310"} ! carcinoma is_a: MONDO:0024881 {source="NCIT:C36310"} ! secondary malignant neoplasm intersection_of: MONDO:0024882 ! secondary neoplasm intersection_of: disease_arises_from_feature MONDO:0004993 ! carcinoma @@ -496264,7 +496774,7 @@ xref: GARD:15286 {source="MONDO:GARD"} xref: MEDGEN:1786502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301058 {source="MONDO:equivalentTo"} xref: UMLS:C5542345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786502"} -is_a: MONDO:0100062 {source="OMIM:301058"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070381", source="OMIM:301058"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -496279,7 +496789,7 @@ xref: DOID:0112274 {source="MONDO:equivalentTo"} xref: MEDGEN:1784059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301059 {source="MONDO:equivalentTo"} xref: UMLS:C5542347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1784059"} -is_a: MONDO:0004983 {source="OMIM:301059"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112274", source="OMIM:301059"} ! spermatogenic failure property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -497189,7 +497699,7 @@ xref: GARD:16443 {source="MONDO:GARD"} xref: MEDGEN:1782096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619325 {source="MONDO:equivalentTo"} xref: UMLS:C5444111 {source="MONDO:equivalentTo", source="MEDGEN:1782096", source="MONDO:MEDGEN"} -is_a: MONDO:0015452 {source="OMIM:619325"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0112370", source="OMIM:619325"} ! Coffin-Siris syndrome [Term] id: MONDO:0025701 @@ -497202,7 +497712,7 @@ xref: DOID:0070402 {source="MONDO:equivalentTo"} xref: MEDGEN:1787833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619328 {source="MONDO:equivalentTo"} xref: UMLS:C5543406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787833"} -is_a: MONDO:0019046 {source="OMIM:619328"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070402", source="OMIM:619328"} ! leukodystrophy [Term] id: MONDO:0025708 @@ -497581,7 +498091,7 @@ xref: OMIM:301020 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:301020"} xref: UMLS:C4746984 {source="MEDGEN:1648278", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:301020"} ! disease -is_a: MONDO:0100223 {source="OMIM:301020"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112099", source="OMIM:301020"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7683 ! NDUFA1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -497600,7 +498110,7 @@ xref: OMIM:301021 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:301021"} xref: UMLS:C4746985 {source="MEDGEN:1648313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000001 {source="OMIM:301021"} ! disease -is_a: MONDO:0100223 {source="OMIM:301021"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112098", source="OMIM:301021"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11 @@ -497647,7 +498157,7 @@ xref: MEDGEN:1683361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301025 {source="MONDO:equivalentTo"} xref: UMLS:C5193010 {source="MEDGEN:1683361", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease -is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0111843", source="OMIM:301025", source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability relationship: excluded_subClassOf MONDO:0020119 {source="OMIM:301025", source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI @@ -497666,7 +498176,7 @@ xref: OMIM:301028 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:301028"} xref: UMLS:C5193011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678854"} is_a: MONDO:0000001 {source="OMIM:301028"} ! disease -is_a: MONDO:0002350 {source="OMIM:301028"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0070357", source="OMIM:301028"} ! familial nephrotic syndrome [Term] id: MONDO:0026727 @@ -497697,7 +498207,7 @@ xref: MEDGEN:1684742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301031 {source="MONDO:equivalentTo"} xref: UMLS:C5231393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684742"} is_a: MONDO:0000001 {source="OMIM:301031"} ! disease -is_a: MONDO:0005500 {source="OMIM:301031"} ! congenital disorder of glycosylation type I +is_a: MONDO:0005500 {source="DOID:0111839", source="OMIM:301031"} ! congenital disorder of glycosylation type I relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -497816,7 +498326,8 @@ xref: OMIM:301043 {source="MONDO:equivalentTo"} xref: Orphanet:220386 {source="OMIM:301043"} xref: Orphanet:93925 {source="OMIM:301043"} xref: UMLS:C5393308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714826"} -is_a: MONDO:0016296 {source="OMIM:301043"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0060954", source="OMIM:301043"} ! holoprosencephaly +is_a: MONDO:0020605 {source="DOID:0060954"} ! X-linked recessive disease relationship: has_characteristic HP:0001417 {source="OMIM:301043"} ! X-linked inheritance relationship: has_characteristic HP:0001419 {source="OMIM:301043"} ! X-linked recessive inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -497883,7 +498394,7 @@ xref: MEDGEN:1708832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301044 {source="MONDO:equivalentTo"} xref: UMLS:C5393312 {source="MEDGEN:1708832", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:301044"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070380", source="OMIM:301044"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11111 ! SMC1A property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -498000,7 +498511,7 @@ xref: MEDGEN:1677048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:400047 {source="MONDO:equivalentTo"} xref: UMLS:C5193013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677048"} is_a: MONDO:0000001 {source="OMIM:400047"} ! disease -is_a: MONDO:0033304 ! nonsyndromic deafness, Y-linked +is_a: MONDO:0033304 {source="DOID:0111758", source="OMIM:400047"} ! nonsyndromic deafness, Y-linked property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498032,7 +498543,7 @@ xref: DOID:0111748 {source="MONDO:equivalentTo"} xref: MEDGEN:477315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:500015 {source="MONDO:equivalentTo"} xref: UMLS:C3275684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:477315"} -is_a: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0111748"} ! mitochondrial proton-transporting ATP synthase complex deficiency [Term] id: MONDO:0027091 @@ -498083,7 +498594,7 @@ xref: NCIT:C129976 {source="MONDO:equivalentTo"} xref: OMIM:610253 {source="DOID:0070075", source="MONDO:equivalentTo"} xref: SCTID:724207001 {source="MONDO:equivalentTo"} xref: UMLS:C0795833 {source="MEDGEN:208639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0012455 {source="OMIM:610253"} ! Kleefstra syndrome +is_a: MONDO:0012455 {source="DOID:0060352", source="OMIM:610253"} ! Kleefstra syndrome relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0070075", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24650 {source="MONDO:mim2gene_medgen"} ! EHMT1 @@ -498342,7 +498853,7 @@ xref: DOID:0080304 {source="MONDO:equivalentTo", source="MONDO:preferredExternal xref: MEDGEN:313370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C45512 {source="MONDO:equivalentTo"} xref: UMLS:C1708776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313370"} -is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C45512"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:0080303", source="MONDO:Redundant", source="NCIT:C45512"} ! mucinous adenocarcinoma is_a: MONDO:0005061 {source="DOID:0080303", source="DOID:0080304", source="MONDO:Redundant", source="NCIT:C45512"} ! lung adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -498579,7 +499090,7 @@ synonym: "muscular dystrophy, limb-girdle, type 1I" RELATED [OMIM:618129] xref: MEDGEN:1648316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618129 {source="MONDO:equivalentTo"} xref: UMLS:C4748295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648316"} -is_a: MONDO:0015151 {source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy, limb-girdle, autosomal dominant +is_a: MONDO:0015151 {source="OMIM:618129", source="https://orcid.org/0000-0001-5208-3432"} ! muscular dystrophy, limb-girdle, autosomal dominant intersection_of: MONDO:0015151 ! muscular dystrophy, limb-girdle, autosomal dominant intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1480 ! CAPN3 @@ -498600,6 +499111,7 @@ xref: MEDGEN:1648422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618131 {source="Orphanet:542301", source="MONDO:equivalentTo"} xref: Orphanet:542301 {source="MONDO:equivalentTo"} xref: UMLS:C4748304 {source="MEDGEN:1648422", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0006025 {source="DOID:0111984"} ! autosomal recessive disease is_a: MONDO:0021094 {source="OMIM:618131"} ! immunodeficiency disease intersection_of: MONDO:0015974 ! severe combined immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/27089 ! CARMIL2 @@ -498647,7 +499159,7 @@ xref: MEDGEN:1648462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618138 {source="MONDO:equivalentTo"} xref: Orphanet:565837 {source="MONDO:equivalentTo"} xref: UMLS:C4748327 {source="MEDGEN:1648462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015152 {source="OMIM:618138"} ! autosomal recessive limb-girdle muscular dystrophy +is_a: MONDO:0015152 {source="OMIM:618138", source="Orphanet:565837"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0100228 {source="PMID:30055037", source="https://clinicalgenome.org/affiliation/40031/"} ! LAMA2-related muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6482 ! LAMA2 @@ -498667,7 +499179,7 @@ xref: GARD:18151 {source="MONDO:GARD"} xref: MEDGEN:1648467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618140 {source="MONDO:equivalentTo"} xref: UMLS:C4748334 {source="MEDGEN:1648467", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019587 {source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112165", source="OMIM:618140"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -498686,7 +499198,7 @@ xref: GARD:16295 {source="MONDO:GARD"} xref: MEDGEN:1648285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618141 {source="MONDO:equivalentTo"} xref: UMLS:C4748341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648285"} -is_a: MONDO:0100062 {source="OMIM:618141"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112203", source="OMIM:618141"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -498732,7 +499244,7 @@ xref: GARD:22659 {source="MONDO:GARD"} xref: MEDGEN:1648423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618145 {source="MONDO:equivalentTo"} xref: UMLS:C4748374 {source="MEDGEN:1648423", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019588 {source="OMIM:618145"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111640", source="OMIM:618145"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -498779,7 +499291,7 @@ xref: GARD:18308 {source="MONDO:GARD"} xref: MEDGEN:377541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618149 {source="MONDO:equivalentTo"} xref: UMLS:C1851878 {source="MEDGEN:377541", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000358 {source="https://orcid.org/0000-0001-5208-3432"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080401", source="OMIM:618149", source="https://orcid.org/0000-0001-5208-3432"} ! orofacial cleft [Term] id: MONDO:0029146 @@ -498799,7 +499311,7 @@ xref: GARD:18406 {source="MONDO:GARD"} xref: MEDGEN:1648473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618152 {source="MONDO:equivalentTo"} xref: UMLS:C4748395 {source="MEDGEN:1648473", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111915", source="OMIM:618152", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0029148 @@ -498813,7 +499325,7 @@ xref: GARD:18407 {source="MONDO:GARD"} xref: MEDGEN:1648297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618153 {source="MONDO:equivalentTo"} xref: UMLS:C4748403 {source="MEDGEN:1648297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111911", source="OMIM:618153", source="https://orcid.org/0000-0001-5208-3432"} ! spermatogenic failure [Term] id: MONDO:0029465 @@ -498879,7 +499391,7 @@ synonym: "AUTS20" EXACT ABBREVIATION [OMIM:618830] xref: MEDGEN:1717195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618830 {source="MONDO:equivalentTo"} xref: UMLS:C5394226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717195"} -is_a: MONDO:0020836 {source="OMIM:300425"} ! autism, susceptiblity to +is_a: MONDO:0020836 {source="OMIM:300425", source="OMIM:618830"} ! autism, susceptiblity to intersection_of: MONDO:0020573 ! inherited disease susceptibility intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14291 ! NLGN1 intersection_of: predisposes_towards MONDO:0005260 ! autism @@ -498915,7 +499427,7 @@ xref: MEDGEN:1714731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618835 {source="MONDO:equivalentTo"} xref: Orphanet:570491 {source="MONDO:equivalentTo"} xref: UMLS:C5394232 {source="MEDGEN:1714731", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618835"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112117", source="OMIM:618835"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030007 @@ -498930,7 +499442,7 @@ xref: DOID:0112119 {source="MONDO:equivalentTo"} xref: MEDGEN:1711853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618838 {source="MONDO:equivalentTo"} xref: UMLS:C5394236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711853"} -is_a: MONDO:0000732 {source="OMIM:618838"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112119", source="OMIM:618838"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030008 @@ -498945,7 +499457,7 @@ xref: DOID:0112118 {source="MONDO:equivalentTo"} xref: MEDGEN:1709379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618839 {source="MONDO:equivalentTo"} xref: UMLS:C5394237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709379"} -is_a: MONDO:0000732 {source="OMIM:618839"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112118", source="OMIM:618839"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030009 @@ -498962,7 +499474,7 @@ xref: GARD:16386 {source="MONDO:GARD"} xref: MEDGEN:1713432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618840 {source="MONDO:equivalentTo"} xref: UMLS:C5394241 {source="MEDGEN:1713432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008756 {source="OMIM:618840"} ! alopecia - intellectual disability syndrome +is_a: MONDO:0008756 {source="DOID:0080950", source="OMIM:618840"} ! alopecia - intellectual disability syndrome [Term] id: MONDO:0030010 @@ -499051,7 +499563,7 @@ xref: DOID:0112116 {source="MONDO:equivalentTo"} xref: MEDGEN:1718250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618851 {source="MONDO:equivalentTo"} xref: UMLS:C5394284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718250"} -is_a: MONDO:0000732 {source="OMIM:618851"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112116", source="OMIM:618851"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030018 @@ -499080,7 +499592,7 @@ xref: DOID:0080963 {source="MONDO:equivalentTo"} xref: MEDGEN:1718444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618853 {source="MONDO:equivalentTo"} xref: UMLS:C5394289 {source="MEDGEN:1718444", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0011773 {source="OMIM:618853"} ! anauxetic dysplasia +is_a: MONDO:0011773 {source="DOID:0080963", source="OMIM:618853"} ! anauxetic dysplasia [Term] id: MONDO:0030020 @@ -499095,7 +499607,7 @@ xref: DOID:0070424 {source="MONDO:equivalentTo"} xref: MEDGEN:1718899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618855 {source="MONDO:equivalentTo"} xref: UMLS:C5394293 {source="MEDGEN:1718899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618855"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070424", source="OMIM:618855"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030024 @@ -499148,7 +499660,7 @@ xref: DOID:0081295 {source="MONDO:equivalentTo"} xref: MEDGEN:1711112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618866 {source="MONDO:equivalentTo"} xref: UMLS:C5394329 {source="MEDGEN:1711112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003233 {source="OMIM:618866"} ! essential tremor +is_a: MONDO:0003233 {source="DOID:0081295", source="OMIM:618866"} ! essential tremor [Term] id: MONDO:0030028 @@ -499200,7 +499712,7 @@ xref: DOID:0112229 {source="MONDO:equivalentTo"} xref: MEDGEN:1719546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618873 {source="MONDO:equivalentTo"} xref: UMLS:C5394354 {source="MEDGEN:1719546", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018838 {source="OMIM:618873"} ! lissencephaly spectrum disorders +is_a: MONDO:0018838 {source="DOID:0112229", source="OMIM:618873"} ! lissencephaly spectrum disorders [Term] id: MONDO:0030032 @@ -499467,7 +499979,7 @@ xref: GARD:16391 {source="MONDO:GARD"} xref: MEDGEN:1711964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618910 {source="MONDO:equivalentTo"} xref: UMLS:C5394462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711964"} -is_a: MONDO:0100062 {source="OMIM:618910"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112220", source="OMIM:618910"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499484,7 +499996,7 @@ xref: MEDGEN:1714781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618912 {source="MONDO:equivalentTo"} xref: UMLS:C5394466 {source="MEDGEN:1714781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0015363 {source="OMIM:618912"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0081427", source="OMIM:618912"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0030056 @@ -499532,7 +500044,7 @@ xref: GARD:18155 {source="MONDO:GARD"} xref: MEDGEN:1709284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618915 {source="MONDO:equivalentTo"} xref: UMLS:C5394499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1709284"} -is_a: MONDO:0019587 {source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112168", source="OMIM:618915"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -499553,7 +500065,7 @@ xref: GARD:16393 {source="MONDO:GARD"} xref: MEDGEN:1719688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618916 {source="MONDO:equivalentTo"} xref: UMLS:C5394501 {source="MEDGEN:1719688", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:618916"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112221", source="OMIM:618916"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499602,7 +500114,7 @@ xref: DOID:0080959 {source="MONDO:equivalentTo"} xref: MEDGEN:1712001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618920 {source="MONDO:equivalentTo"} xref: UMLS:C5394505 {source="MEDGEN:1712001", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016342 {source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia +is_a: MONDO:0016342 {source="OMIM:618920", source="Orphanet:293910"} ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1759 ! CDH2 @@ -499639,7 +500151,7 @@ xref: DOID:0060965 {source="MONDO:equivalentTo"} xref: MEDGEN:1714171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618924 {source="MONDO:equivalentTo"} xref: UMLS:C5394520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714171"} -is_a: MONDO:0016227 {source="OMIM:618924"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0060965", source="OMIM:618924"} ! hereditary episodic ataxia [Term] id: MONDO:0030065 @@ -499671,7 +500183,7 @@ xref: GARD:16395 {source="MONDO:GARD"} xref: MEDGEN:1710326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618935 {source="MONDO:equivalentTo"} xref: UMLS:C5394542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710326"} -is_a: MONDO:0018305 {source="OMIM:618935"} ! chronic granulomatous disease +is_a: MONDO:0018305 {source="DOID:0070368", source="OMIM:618935"} ! chronic granulomatous disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499690,7 +500202,7 @@ xref: GARD:16396 {source="MONDO:GARD"} xref: MEDGEN:1712280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618939 {source="MONDO:equivalentTo"} xref: UMLS:C5394546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712280"} -is_a: MONDO:0002457 {source="OMIM:618939"} ! Treacher-Collins syndrome +is_a: MONDO:0002457 {source="DOID:0080792", source="OMIM:618939"} ! Treacher-Collins syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499753,7 +500265,7 @@ xref: GARD:16398 {source="MONDO:GARD"} xref: MEDGEN:1712195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618959 {source="MONDO:equivalentTo"} xref: UMLS:C5394553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712195"} -is_a: MONDO:0100062 {source="OMIM:618959"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112222", source="OMIM:618959"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -499886,7 +500398,7 @@ xref: MEDGEN:1718159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618881 {source="MONDO:equivalentTo"} xref: Orphanet:570422 {source="MONDO:equivalentTo"} xref: UMLS:C5394377 {source="MEDGEN:1718159", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018116 {source="OMIM:618881"} ! galactosemia +is_a: MONDO:0018116 {source="DOID:0060969", source="OMIM:618881", source="Orphanet:570422"} ! galactosemia is_a: MONDO:0800152 {source="PMID:33340416"} ! disorder of galactose and fructose metabolism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5835" xsd:anyURI @@ -499937,7 +500449,7 @@ xref: GARD:16397 {source="MONDO:GARD"} xref: MEDGEN:1718769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618940 {source="MONDO:equivalentTo"} xref: UMLS:C5394548 {source="MONDO:equivalentTo", source="MEDGEN:1718769", source="MONDO:MEDGEN"} -is_a: MONDO:0025193 {source="OMIM:618940"} ! oculopharyngodistal myopathy +is_a: MONDO:0025193 {source="DOID:0081298", source="OMIM:618940"} ! oculopharyngodistal myopathy [Term] id: MONDO:0030258 @@ -499955,7 +500467,7 @@ xref: MEDGEN:1778516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619301 {source="MONDO:equivalentTo"} xref: Orphanet:613274 {source="MONDO:equivalentTo"} xref: UMLS:C5543322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778516"} -is_a: MONDO:0020135 {source="OMIM:619301"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112325", source="OMIM:619301", source="Orphanet:613274"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030259 @@ -499970,7 +500482,7 @@ xref: GARD:18563 {source="MONDO:GARD"} xref: MEDGEN:1781311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619302 {source="MONDO:equivalentTo"} xref: UMLS:C5543326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781311"} -is_a: MONDO:0020135 {source="OMIM:619302"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112326", source="OMIM:619302"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030260 @@ -500015,7 +500527,7 @@ xref: DOID:0070407 {source="MONDO:equivalentTo"} xref: MEDGEN:1778269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619310 {source="MONDO:equivalentTo"} xref: UMLS:C5543334 {source="MEDGEN:1778269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019046 {source="OMIM:619310"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070407", source="OMIM:619310"} ! leukodystrophy [Term] id: MONDO:0030266 @@ -500046,7 +500558,7 @@ xref: DOID:0070379 {source="MONDO:equivalentTo"} xref: MEDGEN:1779648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619317 {source="MONDO:equivalentTo"} xref: UMLS:C5543353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779648"} -is_a: MONDO:0100062 {source="OMIM:619317"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070379", source="OMIM:619317"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -500074,7 +500586,7 @@ xref: DOID:0070336 {source="MONDO:equivalentTo"} xref: MEDGEN:1786758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619334 {source="MONDO:equivalentTo"} xref: UMLS:C5543431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786758"} -is_a: MONDO:0015168 {source="OMIM:619334"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0070336", source="OMIM:619334"} ! arthrogryposis multiplex congenita [Term] id: MONDO:0030293 @@ -500157,7 +500669,7 @@ xref: DOID:0112337 {source="MONDO:equivalentTo"} xref: MEDGEN:1781781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619380 {source="MONDO:equivalentTo"} xref: UMLS:C5543580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781781"} -is_a: MONDO:0004983 {source="OMIM:619380"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112337", source="OMIM:619380"} ! spermatogenic failure [Term] id: MONDO:0030308 @@ -500196,7 +500708,7 @@ xref: DOID:0070425 {source="MONDO:equivalentTo"} xref: MEDGEN:1780479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619386 {source="MONDO:equivalentTo"} xref: UMLS:C5543592 {source="MEDGEN:1780479", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:619386"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070425", source="OMIM:619386"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030312 @@ -500212,7 +500724,7 @@ xref: DOID:0070410 {source="MONDO:equivalentTo"} xref: MEDGEN:1788435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619389 {source="MONDO:equivalentTo"} xref: UMLS:C5543595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788435"} -is_a: MONDO:0015244 {source="OMIM:619389"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070410", source="OMIM:619389"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0030313 @@ -500280,7 +500792,7 @@ xref: DOID:0070411 {source="MONDO:equivalentTo"} xref: MEDGEN:1778853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619405 {source="MONDO:equivalentTo"} xref: UMLS:C5543620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778853"} -is_a: MONDO:0015244 {source="OMIM:619405"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070411", source="OMIM:619405"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0030323 @@ -500295,7 +500807,7 @@ xref: DOID:0070412 {source="MONDO:equivalentTo"} xref: MEDGEN:1786855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619422 {source="MONDO:equivalentTo"} xref: UMLS:C5543627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1786855"} -is_a: MONDO:0015244 {source="OMIM:619422"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070412", source="OMIM:619422"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0030326 @@ -500308,7 +500820,7 @@ xref: DOID:0070447 {source="MONDO:equivalentTo"} xref: MEDGEN:1780329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619425 {source="MONDO:equivalentTo"} xref: UMLS:C5543632 {source="MEDGEN:1780329", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018158 {source="OMIM:619425"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070447", source="OMIM:619425"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0030329 @@ -500487,7 +500999,7 @@ xref: DOID:0060917 {source="MONDO:equivalentTo"} xref: MEDGEN:1794169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619477 {source="MONDO:equivalentTo"} xref: UMLS:C5561959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794169"} -is_a: MONDO:0001347 {source="OMIM:619477"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DOID:0060917", source="OMIM:619477"} ! facioscapulohumeral muscular dystrophy [Term] id: MONDO:0030355 @@ -500502,7 +501014,7 @@ xref: DOID:0060918 {source="MONDO:equivalentTo"} xref: MEDGEN:1794170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619478 {source="MONDO:equivalentTo"} xref: UMLS:C5561960 {source="MEDGEN:1794170", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001347 {source="OMIM:619478"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="DOID:0060918", source="OMIM:619478"} ! facioscapulohumeral muscular dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -500622,7 +501134,7 @@ xref: DOID:0070426 {source="MONDO:equivalentTo"} xref: MEDGEN:1779083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619423 {source="MONDO:equivalentTo"} xref: UMLS:C5543631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1779083"} -is_a: MONDO:0000732 {source="OMIM:619423"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070426", source="OMIM:619423"} ! combined oxidative phosphorylation deficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -500679,7 +501191,7 @@ xref: DOID:0112336 {source="MONDO:equivalentTo"} xref: MEDGEN:1794188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619515 {source="MONDO:equivalentTo"} xref: UMLS:C5561978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794188"} -is_a: MONDO:0004983 {source="OMIM:619515"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112336", source="OMIM:619515"} ! spermatogenic failure [Term] id: MONDO:0030433 @@ -500741,7 +501253,7 @@ xref: DOID:0112333 {source="MONDO:equivalentTo"} xref: MEDGEN:1794197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619527 {source="MONDO:equivalentTo"} xref: UMLS:C5561987 {source="MEDGEN:1794197", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020135 {source="OMIM:619527"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112333", source="OMIM:619527"} ! pontocerebellar hypoplasia [Term] id: MONDO:0030439 @@ -500751,7 +501263,7 @@ xref: DOID:0112338 {source="MONDO:equivalentTo"} xref: MEDGEN:1794198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619528 {source="MONDO:equivalentTo"} xref: UMLS:C5561988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794198"} -is_a: MONDO:0004983 {source="OMIM:619528"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112338", source="OMIM:619528"} ! spermatogenic failure [Term] id: MONDO:0030440 @@ -500764,7 +501276,7 @@ xref: DOID:0081448 {source="MONDO:equivalentTo"} xref: MEDGEN:1794199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619531 {source="MONDO:equivalentTo"} xref: UMLS:C5561989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794199"} -is_a: MONDO:0015993 {source="OMIM:619531"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DOID:0081448", source="OMIM:619531"} ! cone-rod dystrophy [Term] id: MONDO:0030448 @@ -500800,7 +501312,7 @@ xref: DOID:0070383 {source="MONDO:equivalentTo"} xref: MEDGEN:1794209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619561 {source="MONDO:equivalentTo"} xref: UMLS:C5561999 {source="MEDGEN:1794209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:619561"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070383", source="OMIM:619561"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030454 @@ -500883,7 +501395,7 @@ xref: DOID:0112352 {source="MONDO:equivalentTo"} xref: MEDGEN:1794218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619585 {source="MONDO:equivalentTo"} xref: UMLS:C5562008 {source="MEDGEN:1794218", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:619585"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112352", source="OMIM:619585"} ! spermatogenic failure [Term] id: MONDO:0030465 @@ -500918,7 +501430,7 @@ xref: DOID:0070384 {source="MONDO:equivalentTo"} xref: MEDGEN:1794227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619605 {source="MONDO:equivalentTo"} xref: UMLS:C5562017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794227"} -is_a: MONDO:0100062 {source="OMIM:619605"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070384", source="OMIM:619605"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030473 @@ -500932,7 +501444,7 @@ xref: DOID:0070385 {source="MONDO:equivalentTo"} xref: MEDGEN:1794228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619606 {source="MONDO:equivalentTo"} xref: UMLS:C5562018 {source="MEDGEN:1794228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:619606"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070385", source="OMIM:619606"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030474 @@ -501093,7 +501605,7 @@ xref: DOID:0112357 {source="MONDO:equivalentTo"} xref: MEDGEN:1794244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619645 {source="MONDO:equivalentTo"} xref: UMLS:C5562034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794244"} -is_a: MONDO:0004983 {source="OMIM:619645"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112357", source="OMIM:619645"} ! spermatogenic failure [Term] id: MONDO:0030493 @@ -501103,7 +501615,7 @@ xref: DOID:0112355 {source="MONDO:equivalentTo"} xref: MEDGEN:1794245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619646 {source="MONDO:equivalentTo"} xref: UMLS:C5562035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794245"} -is_a: MONDO:0004983 {source="OMIM:619646"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112355", source="OMIM:619646"} ! spermatogenic failure [Term] id: MONDO:0030498 @@ -501129,7 +501641,7 @@ xref: DOID:0060964 {source="MONDO:equivalentTo"} xref: MEDGEN:1794251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619656 {source="MONDO:equivalentTo"} xref: UMLS:C5562041 {source="MONDO:equivalentTo", source="MEDGEN:1794251", source="MONDO:MEDGEN"} -is_a: MONDO:0018954 {source="OMIM:619656"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DOID:0060964", source="OMIM:619656"} ! Loeys-Dietz syndrome [Term] id: MONDO:0030502 @@ -501190,7 +501702,7 @@ xref: DOID:0112350 {source="MONDO:equivalentTo"} xref: MEDGEN:1794258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619672 {source="MONDO:equivalentTo"} xref: UMLS:C5562048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794258"} -is_a: MONDO:0004983 {source="OMIM:619672"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112350", source="OMIM:619672"} ! spermatogenic failure [Term] id: MONDO:0030508 @@ -501200,7 +501712,7 @@ xref: DOID:0112351 {source="MONDO:equivalentTo"} xref: MEDGEN:1794259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619673 {source="MONDO:equivalentTo"} xref: UMLS:C5562049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794259"} -is_a: MONDO:0004983 {source="OMIM:619673"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112351", source="OMIM:619673"} ! spermatogenic failure [Term] id: MONDO:0030512 @@ -501249,7 +501761,7 @@ xref: DOID:0070397 {source="MONDO:equivalentTo"} xref: MEDGEN:1794284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619688 {source="MONDO:equivalentTo"} xref: UMLS:C5562074 {source="MONDO:equivalentTo", source="MEDGEN:1794284", source="MONDO:MEDGEN"} -is_a: MONDO:0019046 {source="OMIM:619688"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070397", source="OMIM:619688"} ! leukodystrophy [Term] id: MONDO:0030515 @@ -501259,7 +501771,7 @@ xref: DOID:0112356 {source="MONDO:equivalentTo"} xref: MEDGEN:1794265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619689 {source="MONDO:equivalentTo"} xref: UMLS:C5562055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794265"} -is_a: MONDO:0004983 {source="OMIM:619689"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112356", source="OMIM:619689"} ! spermatogenic failure [Term] id: MONDO:0030517 @@ -501297,7 +501809,7 @@ xref: DOID:0081141 {source="MONDO:equivalentTo"} xref: MEDGEN:1794269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619693 {source="MONDO:equivalentTo"} xref: UMLS:C5562059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794269"} -is_a: MONDO:0015977 {source="OMIM:619693"} ! agammaglobulinemia +is_a: MONDO:0015977 {source="DOID:0081141", source="OMIM:619693"} ! agammaglobulinemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -501308,7 +501820,7 @@ xref: DOID:0112353 {source="MONDO:equivalentTo"} xref: MEDGEN:1794272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619696 {source="MONDO:equivalentTo"} xref: UMLS:C5562062 {source="MEDGEN:1794272", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:619696"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112353", source="OMIM:619696"} ! spermatogenic failure [Term] id: MONDO:0030523 @@ -501379,7 +501891,7 @@ xref: DOID:0081142 {source="MONDO:equivalentTo"} xref: MEDGEN:1806624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619707 {source="MONDO:equivalentTo"} xref: UMLS:C5676900 {source="MEDGEN:1806624", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015977 {source="OMIM:619707"} ! agammaglobulinemia +is_a: MONDO:0015977 {source="DOID:0081142", source="OMIM:619707"} ! agammaglobulinemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -501390,7 +501902,7 @@ xref: DOID:0112354 {source="MONDO:equivalentTo"} xref: MEDGEN:1794277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619712 {source="MONDO:equivalentTo"} xref: UMLS:C5562067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794277"} -is_a: MONDO:0004983 {source="OMIM:619712"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112354", source="OMIM:619712"} ! spermatogenic failure [Term] id: MONDO:0030533 @@ -501403,7 +501915,7 @@ xref: DOID:0081233 {source="MONDO:equivalentTo"} xref: MEDGEN:1802013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619717 {source="MONDO:equivalentTo"} xref: UMLS:C5676902 {source="MEDGEN:1802013", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 {source="OMIM:619717"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081233", source="OMIM:619717"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0030534 @@ -501471,7 +501983,7 @@ xref: DOID:0070427 {source="MONDO:equivalentTo"} xref: MEDGEN:1812715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619737 {source="MONDO:equivalentTo"} xref: UMLS:C5676912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812715"} -is_a: MONDO:0000732 {source="OMIM:619737"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070427", source="OMIM:619737"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0030549 @@ -501498,7 +502010,7 @@ xref: DOID:0081238 {source="MONDO:equivalentTo"} xref: MEDGEN:1794238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619636 {source="MONDO:equivalentTo"} xref: UMLS:C5562028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794238"} -is_a: MONDO:0019696 {source="OMIM:619636"} ! acromesomelic dysplasia +is_a: MONDO:0019696 {source="DOID:0081238", source="OMIM:619636"} ! acromesomelic dysplasia [Term] id: MONDO:0030602 @@ -501674,7 +502186,7 @@ xref: DOID:0081074 {source="MONDO:equivalentTo"} xref: MEDGEN:1809276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619736 {source="MONDO:equivalentTo"} xref: UMLS:C5676911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809276"} -is_a: MONDO:0030639 {source="OMIM:619736"} ! Teebi hypertelorism syndrome +is_a: MONDO:0030639 {source="DOID:0081074", source="OMIM:619736"} ! Teebi hypertelorism syndrome [Term] id: MONDO:0030676 @@ -501822,7 +502334,7 @@ xref: DOID:0070386 {source="MONDO:equivalentTo"} xref: MEDGEN:1809351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619777 {source="MONDO:equivalentTo"} xref: UMLS:C5676932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809351"} -is_a: MONDO:0100062 {source="OMIM:619777"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070386", source="OMIM:619777"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030696 @@ -501836,7 +502348,7 @@ xref: DOID:0070451 {source="MONDO:equivalentTo"} xref: MEDGEN:1804209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619780 {source="MONDO:equivalentTo"} xref: UMLS:C5676934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804209"} -is_a: MONDO:0018158 {source="OMIM:619780"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070451", source="OMIM:619780"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0030697 @@ -501990,7 +502502,7 @@ xref: DOID:0081300 {source="MONDO:equivalentTo"} xref: MEDGEN:1809981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619790 {source="MONDO:equivalentTo"} xref: UMLS:C5676941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809981"} -is_a: MONDO:0025193 {source="OMIM:619790"} ! oculopharyngodistal myopathy +is_a: MONDO:0025193 {source="DOID:0081300", source="OMIM:619790"} ! oculopharyngodistal myopathy [Term] id: MONDO:0030714 @@ -502132,7 +502644,7 @@ xref: DOID:0070387 {source="MONDO:equivalentTo"} xref: MEDGEN:1805172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619814 {source="MONDO:equivalentTo"} xref: UMLS:C5676955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805172"} -is_a: MONDO:0100062 {source="OMIM:619814"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070387", source="OMIM:619814"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030729 @@ -502345,7 +502857,7 @@ xref: DOID:0070370 {source="MONDO:equivalentTo"} xref: MEDGEN:1801155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619793 {source="MONDO:equivalentTo"} xref: UMLS:C5676942 {source="MEDGEN:1801155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0031213 {source="OMIM:619793"} ! restrictive dermopathy +is_a: MONDO:0031213 {source="DOID:0070370", source="OMIM:619793"} ! restrictive dermopathy [Term] id: MONDO:0030785 @@ -502359,7 +502871,7 @@ xref: DOID:0081234 {source="MONDO:equivalentTo"} xref: MEDGEN:1808159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619827 {source="MONDO:equivalentTo"} xref: UMLS:C5676961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808159"} -is_a: MONDO:0019502 {source="OMIM:619827"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081234", source="OMIM:619827"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0030787 @@ -502645,7 +503157,7 @@ xref: DOID:0112175 {source="MONDO:equivalentTo"} xref: MEDGEN:1721477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619102 {source="MONDO:equivalentTo"} xref: UMLS:C5436818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1721477"} -is_a: MONDO:0004983 {source="OMIM:619102"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112175", source="OMIM:619102"} ! spermatogenic failure [Term] id: MONDO:0030846 @@ -502660,7 +503172,7 @@ xref: GARD:16420 {source="MONDO:GARD"} xref: MEDGEN:1761843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619108 {source="MONDO:equivalentTo"} xref: UMLS:C5436823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761843"} -is_a: MONDO:0004983 {source="OMIM:619108"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112176", source="OMIM:619108"} ! spermatogenic failure [Term] id: MONDO:0030847 @@ -502746,7 +503258,7 @@ xref: GARD:16424 {source="MONDO:GARD"} xref: MEDGEN:1761611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619124 {source="MONDO:equivalentTo"} xref: UMLS:C5436853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761611"} -is_a: MONDO:0100062 {source="OMIM:619124"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112223", source="OMIM:619124"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030858 @@ -502808,7 +503320,7 @@ xref: DOID:0112201 {source="MONDO:equivalentTo"} xref: MEDGEN:1723598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619131 {source="MONDO:equivalentTo"} xref: UMLS:C5436875 {source="MONDO:equivalentTo", source="MEDGEN:1723598", source="MONDO:MEDGEN"} -is_a: MONDO:0019019 {source="OMIM:619131"} ! osteogenesis imperfecta +is_a: MONDO:0019019 {source="DOID:0112201", source="OMIM:619131"} ! osteogenesis imperfecta property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -502881,7 +503393,7 @@ xref: DOID:0112271 {source="MONDO:equivalentTo"} xref: MEDGEN:1742668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619144 {source="MONDO:equivalentTo"} xref: UMLS:C5436887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1742668"} -is_a: MONDO:0004983 {source="OMIM:619144"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112271", source="OMIM:619144"} ! spermatogenic failure [Term] id: MONDO:0030869 @@ -502894,7 +503406,7 @@ xref: DOID:0112272 {source="MONDO:equivalentTo"} xref: MEDGEN:1747507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619145 {source="MONDO:equivalentTo"} xref: UMLS:C5436888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1747507"} -is_a: MONDO:0004983 {source="OMIM:619145"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112272", source="OMIM:619145"} ! spermatogenic failure property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -503023,7 +503535,7 @@ xref: DOID:0070388 {source="MONDO:equivalentTo"} xref: MEDGEN:1812769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619881 {source="MONDO:equivalentTo"} xref: UMLS:C5676991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812769"} -is_a: MONDO:0100062 {source="OMIM:619881"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070388", source="OMIM:619881"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030883 @@ -503037,7 +503549,7 @@ xref: DOID:0070467 {source="MONDO:equivalentTo"} xref: MEDGEN:1725962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619161 {source="MONDO:equivalentTo"} xref: UMLS:C5436916 {source="MEDGEN:1725962", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007275 {source="OMIM:619161"} ! carpal tunnel syndrome +is_a: MONDO:0007275 {source="DOID:0070467", source="OMIM:619161"} ! carpal tunnel syndrome [Term] id: MONDO:0030885 @@ -503149,7 +503661,7 @@ xref: GARD:16428 {source="MONDO:GARD"} xref: MEDGEN:1745920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619155 {source="MONDO:equivalentTo"} xref: UMLS:C5436909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1745920"} -is_a: MONDO:0002350 {source="OMIM:619155"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0112268", source="OMIM:619155"} ! familial nephrotic syndrome [Term] id: MONDO:0030896 @@ -503211,7 +503723,7 @@ xref: MEDGEN:1754121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619165 {source="MONDO:equivalentTo"} xref: Orphanet:597733 {source="MONDO:equivalentTo"} xref: UMLS:C5436929 {source="MEDGEN:1754121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018910 {source="OMIM:619165"} ! oculocutaneous albinism +is_a: MONDO:0018910 {source="OMIM:619165", source="Orphanet:597733"} ! oculocutaneous albinism property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -503438,6 +503950,7 @@ xref: Orphanet:500159 {source="MONDO:equivalentTo", source="OMIM:617751"} xref: UMLS:C4540321 {source="MEDGEN:1619532", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:500159", source="https://clinicalgenome.org/affiliation/40060/"} ! syndromic intellectual disability is_a: MONDO:0015159 {source="Orphanet:500159"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0100172 {source="OMIM:617751"} ! intellectual disability, autosomal dominant relationship: excluded_subClassOf MONDO:0015802 {source="DOID:0080235", source="OMIM:617751", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -503669,7 +504182,7 @@ xref: GARD:18448 {source="MONDO:GARD"} xref: MEDGEN:1779962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619175 {source="MONDO:equivalentTo"} xref: UMLS:C5543027 {source="MONDO:equivalentTo", source="MEDGEN:1779962", source="MONDO:MEDGEN"} -is_a: MONDO:0009726 {source="OMIM:619175"} ! proteosome-associated autoinflammatory syndrome +is_a: MONDO:0009726 {source="DOID:0060919", source="OMIM:619175"} ! proteosome-associated autoinflammatory syndrome [Term] id: MONDO:0030925 @@ -503694,7 +504207,7 @@ xref: DOID:0112273 {source="MONDO:equivalentTo"} xref: MEDGEN:1780365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619177 {source="MONDO:equivalentTo"} xref: UMLS:C5543033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1780365"} -is_a: MONDO:0004983 {source="OMIM:619177"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112273", source="OMIM:619177"} ! spermatogenic failure [Term] id: MONDO:0030927 @@ -503708,7 +504221,7 @@ xref: DOID:0081338 {source="MONDO:equivalentTo"} xref: MEDGEN:1782465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619178 {source="MONDO:equivalentTo"} xref: UMLS:C5543038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782465"} -is_a: MONDO:0018943 {source="OMIM:619178"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0081338", source="OMIM:619178"} ! myofibrillar myopathy [Term] id: MONDO:0030928 @@ -503771,7 +504284,7 @@ xref: GARD:18449 {source="MONDO:GARD"} xref: MEDGEN:1780127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619183 {source="MONDO:equivalentTo"} xref: UMLS:C5543053 {source="MEDGEN:1780127", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009726 {source="OMIM:619183"} ! proteosome-associated autoinflammatory syndrome +is_a: MONDO:0009726 {source="DOID:0060915", source="OMIM:619183"} ! proteosome-associated autoinflammatory syndrome [Term] id: MONDO:0030933 @@ -503858,7 +504371,7 @@ xref: GARD:16436 {source="MONDO:GARD"} xref: MEDGEN:1785685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619202 {source="MONDO:equivalentTo"} xref: UMLS:C5543094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1785685"} -is_a: MONDO:0004983 {source="OMIM:619202"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112270", source="OMIM:619202"} ! spermatogenic failure [Term] id: MONDO:0030939 @@ -503931,7 +504444,7 @@ xref: DOID:0070389 {source="MONDO:equivalentTo"} xref: MEDGEN:1809962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619913 {source="MONDO:equivalentTo"} xref: UMLS:C5677002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809962"} -is_a: MONDO:0100062 {source="OMIM:619913"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070389", source="OMIM:619913"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0030958 @@ -503974,7 +504487,7 @@ xref: GARD:16435 {source="MONDO:GARD"} xref: MEDGEN:1787011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619201 {source="MONDO:equivalentTo"} xref: UMLS:C5543092 {source="MEDGEN:1787011", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002350 {source="OMIM:619201"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0112266", source="OMIM:619201"} ! familial nephrotic syndrome [Term] id: MONDO:0030963 @@ -504036,7 +504549,7 @@ xref: DOID:0081235 {source="MONDO:equivalentTo"} xref: MEDGEN:1808571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619931 {source="MONDO:equivalentTo"} xref: UMLS:C5677007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808571"} -is_a: MONDO:0019502 {source="OMIM:619931"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081235", source="OMIM:619931"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0030969 @@ -504141,7 +504654,7 @@ xref: MEDGEN:1786836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619216 {source="MONDO:equivalentTo"} xref: UMLS:C5543119 {source="MEDGEN:1786836", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0015363 {source="OMIM:619216"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0081426", source="OMIM:619216"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0030978 @@ -504276,7 +504789,7 @@ xref: DOID:0112279 {source="MONDO:equivalentTo"} xref: MEDGEN:1787013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619258 {source="MONDO:equivalentTo"} xref: UMLS:C5543253 {source="MONDO:equivalentTo", source="MEDGEN:1787013", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:619258"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112279", source="OMIM:619258"} ! spermatogenic failure [Term] id: MONDO:0030990 @@ -504625,7 +505138,7 @@ xref: OMIM:619966 {source="MONDO:equivalentTo"} xref: Orphanet:631088 {source="MONDO:equivalentTo"} xref: UMLS:C5774182 {source="MEDGEN:1813069", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0019064 {source="OMIM:619966", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070456", source="OMIM:619966", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI @@ -504642,7 +505155,7 @@ xref: DOID:0070390 {source="MONDO:equivalentTo"} xref: MEDGEN:1823956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619970 {source="MONDO:equivalentTo"} xref: UMLS:C5774183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823956"} -is_a: MONDO:0100062 {source="OMIM:619970"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070390", source="OMIM:619970"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0031028 @@ -504656,7 +505169,7 @@ xref: DOID:0070391 {source="MONDO:equivalentTo"} xref: MEDGEN:1823963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619983 {source="MONDO:equivalentTo"} xref: UMLS:C5774190 {source="MEDGEN:1823963", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:619983"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070391", source="OMIM:619983"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0031030 @@ -504680,7 +505193,7 @@ xref: DOID:0081236 {source="MONDO:equivalentTo"} xref: MEDGEN:1823966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619988 {source="MONDO:equivalentTo"} xref: UMLS:C5774193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823966"} -is_a: MONDO:0019502 {source="OMIM:619988"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081236", source="OMIM:619988"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0031037 @@ -504802,7 +505315,7 @@ xref: DOID:0070392 {source="MONDO:equivalentTo"} xref: MEDGEN:1823985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620028 {source="MONDO:equivalentTo"} xref: UMLS:C5774212 {source="MEDGEN:1823985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620028"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070392", source="OMIM:620028"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0031054 @@ -504829,7 +505342,7 @@ xref: DOID:0070393 {source="MONDO:equivalentTo"} xref: MEDGEN:1823988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620033 {source="MONDO:equivalentTo"} xref: UMLS:C5774215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823988"} -is_a: MONDO:0100062 {source="OMIM:620033"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070393", source="OMIM:620033"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0031057 @@ -504942,7 +505455,7 @@ xref: DOID:0060945 {source="MONDO:equivalentTo"} xref: MEDGEN:1824019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620104 {source="MONDO:equivalentTo"} xref: UMLS:C5774246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824019"} -is_a: MONDO:0019507 {source="OMIM:620104"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0060945", source="OMIM:620104"} ! amelogenesis imperfecta [Term] id: MONDO:0031115 @@ -505115,7 +505628,7 @@ id: MONDO:0031329 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome xref: DOID:0081072 {source="MONDO:equivalentTo"} xref: OMIMPS:213980 {source="MONDO:equivalentTo"} -is_a: MONDO:0002254 ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0081072"} ! syndromic disease is_a: MONDO:0003847 {source="OMIMPS:213980"} ! hereditary disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:213980"} ! inherited property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5619" xsd:anyURI @@ -505506,7 +506019,7 @@ xref: OMIM:618093 {source="MONDO:equivalentTo"} xref: Orphanet:631103 {source="MONDO:equivalentTo"} xref: UMLS:C4748158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648409"} is_a: MONDO:0000001 {source="OMIM:618093"} ! disease -is_a: MONDO:0020380 {source="OMIM:618093"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0111746", source="OMIM:618093"} ! autosomal dominant cerebellar ataxia [Term] id: MONDO:0032564 @@ -505693,7 +506206,7 @@ xref: OMIM:618173 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618173"} xref: UMLS:C4748536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648404"} is_a: MONDO:0003847 {source="OMIM:618173"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:618173"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112140", source="OMIM:618173"} ! retinitis pigmentosa [Term] id: MONDO:0032578 @@ -505730,7 +506243,7 @@ xref: MEDGEN:1648294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618176 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618176"} xref: UMLS:C4748545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648294"} -is_a: MONDO:0002350 {source="OMIM:618176"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080392", source="OMIM:618176"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618176"} ! hereditary disease [Term] @@ -505746,7 +506259,7 @@ xref: MEDGEN:1648464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618177 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618177"} xref: UMLS:C4748549 {source="MEDGEN:1648464", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002350 {source="OMIM:618177"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080393", source="OMIM:618177"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618177"} ! hereditary disease [Term] @@ -505762,7 +506275,7 @@ xref: MEDGEN:1648305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618178 {source="MONDO:equivalentTo"} xref: Orphanet:656 {source="OMIM:618178"} xref: UMLS:C4748552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648305"} -is_a: MONDO:0002350 {source="OMIM:618178"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0080394", source="OMIM:618178"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618178"} ! hereditary disease [Term] @@ -505794,7 +506307,7 @@ xref: MEDGEN:1648329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618180 {source="MONDO:equivalentTo"} xref: UMLS:C4748560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648329"} is_a: MONDO:0003847 {source="OMIM:618180"} ! hereditary disease -is_a: MONDO:0019287 {source="OMIM:618180"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111662", source="OMIM:618180"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0032586 @@ -505837,7 +506350,7 @@ xref: MEDGEN:1648455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618187 {source="MONDO:equivalentTo"} xref: UMLS:C4748626 {source="MEDGEN:1648455", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618187"} ! hereditary disease -is_a: MONDO:0009299 {source="OMIM:618187"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080500", source="OMIM:618187"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0032591 @@ -505875,6 +506388,7 @@ xref: Orphanet:154 {source="OMIM:618189"} xref: UMLS:C4748647 {source="MEDGEN:1648379", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618189"} ! hereditary disease is_a: MONDO:0005021 {source="DOID:0081159"} ! dilated cardiomyopathy +is_a: MONDO:0016333 {source="OMIM:618189"} ! familial dilated cardiomyopathy [Term] id: MONDO:0032594 @@ -505947,7 +506461,7 @@ xref: OMIM:618201 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618201"} xref: UMLS:C4748688 {source="MONDO:equivalentTo", source="MEDGEN:1648479", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618201"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618201"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112204", source="OMIM:618201"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506035,7 +506549,7 @@ xref: OMIM:618220 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618220"} xref: UMLS:C4748725 {source="MEDGEN:1648352", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618220"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:618220"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112141", source="OMIM:618220"} ! retinitis pigmentosa [Term] id: MONDO:0032605 @@ -506053,7 +506567,7 @@ xref: OMIM:618221 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618221"} xref: UMLS:C4748732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648460"} is_a: MONDO:0003847 {source="OMIM:618221"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618221"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081227", source="OMIM:618221"} ! autosomal recessive non-syndromic intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506071,7 +506585,7 @@ xref: Orphanet:255241 {source="OMIM:618222"} xref: Orphanet:2609 {source="OMIM:618222"} xref: UMLS:C4748737 {source="MEDGEN:1648466", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618222"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618222"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112083", source="OMIM:618222"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7715 ! NDUFS8 @@ -506101,7 +506615,7 @@ xref: Orphanet:255241 {source="OMIM:618224"} xref: Orphanet:2609 {source="OMIM:618224"} xref: UMLS:C4748752 {source="MEDGEN:1648346", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112093", source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7714 ! NDUFS7 @@ -506120,7 +506634,7 @@ xref: Orphanet:255241 {source="OMIM:618225"} xref: Orphanet:2609 {source="OMIM:618225"} xref: UMLS:C4748753 {source="MEDGEN:1648324", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112082", source="OMIM:618224", source="OMIM:618225"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7716 ! NDUFV1 @@ -506140,7 +506654,7 @@ xref: Orphanet:255241 {source="OMIM:618226"} xref: Orphanet:2609 {source="OMIM:618226"} xref: UMLS:C4748754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648292"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112068", source="OMIM:618224", source="OMIM:618226"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7707 ! NDUFS1 @@ -506160,7 +506674,7 @@ xref: Orphanet:2609 {source="OMIM:618228"} xref: Orphanet:70474 {source="OMIM:618228"} xref: UMLS:C4748759 {source="MEDGEN:1648496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112066", source="OMIM:618224", source="OMIM:618228"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7708 ! NDUFS2 @@ -506179,7 +506693,7 @@ xref: Orphanet:255241 {source="OMIM:618229"} xref: Orphanet:2609 {source="OMIM:618229"} xref: UMLS:C4748760 {source="MEDGEN:1648484", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112092", source="OMIM:618224", source="OMIM:618229"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7717 ! NDUFV2 @@ -506198,7 +506712,7 @@ xref: Orphanet:255241 {source="OMIM:618230"} xref: Orphanet:2609 {source="OMIM:618230"} xref: UMLS:C4748766 {source="MEDGEN:1648411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112081", source="OMIM:618224", source="OMIM:618230"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7710 ! NDUFS3 @@ -506212,7 +506726,7 @@ xref: MEDGEN:1648344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618231 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618231"} xref: UMLS:C4722258 {source="MEDGEN:1648344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to +is_a: MONDO:0100043 {source="OMIM:618231", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618231", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: predisposes_towards MONDO:0009176 {source="OMIM:618231"} ! epidermodysplasia verruciformis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -506232,7 +506746,7 @@ xref: OMIM:618232 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618232"} xref: UMLS:C4748767 {source="MEDGEN:1648447", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112073", source="OMIM:618224", source="OMIM:618232"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7713 ! NDUFS6 @@ -506251,7 +506765,7 @@ xref: Orphanet:255241 {source="OMIM:618233"} xref: Orphanet:2609 {source="OMIM:618233"} xref: UMLS:C4748768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648426"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112075", source="OMIM:618224", source="OMIM:618233"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28086 ! NDUFAF2 @@ -506269,7 +506783,7 @@ xref: OMIM:618234 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618234"} xref: UMLS:C4748769 {source="MEDGEN:1648356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112089", source="OMIM:618224", source="OMIM:618234"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18828 ! NDUFAF1 @@ -506287,7 +506801,7 @@ xref: OMIM:618235 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618235"} xref: UMLS:C4748770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648370"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112076", source="OMIM:618224", source="OMIM:618235"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7685 ! NDUFA2 @@ -506305,7 +506819,7 @@ xref: OMIM:618236 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618236"} xref: UMLS:C4748777 {source="MEDGEN:1648440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112094", source="OMIM:618224", source="OMIM:618236"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20371 ! NDUFA11 @@ -506323,7 +506837,7 @@ xref: OMIM:618237 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618237"} xref: UMLS:C4748778 {source="MEDGEN:1648320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112077", source="OMIM:618224", source="OMIM:618237"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21034 ! NDUFAF4 @@ -506341,7 +506855,7 @@ xref: OMIM:618238 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618238"} xref: UMLS:C4748785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648351"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112096", source="OMIM:618224", source="OMIM:618238"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15899 ! NDUFAF5 @@ -506359,7 +506873,7 @@ xref: OMIM:618239 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618239"} xref: UMLS:C4748786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648418"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112078", source="OMIM:618224", source="OMIM:618239"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28625 ! NDUFAF6 @@ -506378,7 +506892,7 @@ xref: Orphanet:255241 {source="OMIM:618240"} xref: Orphanet:2609 {source="OMIM:618240"} xref: UMLS:C4748790 {source="MEDGEN:1648321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112070", source="OMIM:618224", source="OMIM:618240"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29918 ! NDUFAF3 @@ -506397,7 +506911,7 @@ xref: Orphanet:255241 {source="OMIM:618241"} xref: Orphanet:2609 {source="OMIM:618241"} xref: UMLS:C4748791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648450"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112085", source="OMIM:618224", source="OMIM:618241"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26927 ! FOXRED1 @@ -506415,7 +506929,7 @@ xref: OMIM:618242 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618242"} xref: UMLS:C4748792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648383"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112088", source="OMIM:618224", source="OMIM:618242"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20278 ! NUBPL @@ -506433,7 +506947,7 @@ xref: OMIM:618243 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618243"} xref: UMLS:C4748796 {source="MONDO:equivalentTo", source="MEDGEN:1648347", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112069", source="OMIM:618224", source="OMIM:618243"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7684 ! NDUFA10 @@ -506451,7 +506965,7 @@ xref: OMIM:618244 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618244"} xref: UMLS:C4748799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648408"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112087", source="OMIM:618224", source="OMIM:618244"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/23987 ! NDUFA12 @@ -506469,7 +506983,7 @@ xref: OMIM:618245 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618245"} xref: UMLS:C4748803 {source="MEDGEN:1648364", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112079", source="OMIM:618224", source="OMIM:618245"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7704 ! NDUFB9 @@ -506487,7 +507001,7 @@ xref: OMIM:618246 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618246"} xref: UMLS:C4748806 {source="MEDGEN:1648366", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112067", source="OMIM:618224", source="OMIM:618246"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7698 ! NDUFB3 @@ -506503,7 +507017,7 @@ xref: MEDGEN:1648283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618247 {source="MONDO:equivalentTo"} xref: UMLS:C4748809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648283"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112086", source="OMIM:618224", source="OMIM:618247"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7693 ! NDUFA9 @@ -506521,7 +507035,7 @@ xref: OMIM:618248 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618248"} xref: UMLS:C4748826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648481"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112090", source="OMIM:618224", source="OMIM:618248"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29666 ! MTFMT @@ -506539,7 +507053,7 @@ xref: OMIM:618249 {source="MONDO:equivalentTo"} xref: Orphanet:255241 {source="OMIM:618249"} xref: UMLS:C4748827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648493"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112095", source="OMIM:618224", source="OMIM:618249"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17194 ! NDUFA13 @@ -506557,7 +507071,7 @@ xref: OMIM:618250 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618250"} xref: UMLS:C4748830 {source="MEDGEN:1648451", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112084", source="OMIM:618224", source="OMIM:618250"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30883 ! TMEM126B @@ -506575,7 +507089,7 @@ xref: OMIM:618251 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618251"} xref: UMLS:C4748838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648395"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112071", source="OMIM:618224", source="OMIM:618251"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1321 ! TIMMDC1 @@ -506593,7 +507107,7 @@ xref: OMIM:618252 {source="MONDO:equivalentTo"} xref: Orphanet:70474 {source="OMIM:618252"} xref: UMLS:C4748839 {source="MONDO:equivalentTo", source="MEDGEN:1648336", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112080", source="OMIM:618224", source="OMIM:618252"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7703 ! NDUFB8 @@ -506611,7 +507125,7 @@ xref: OMIM:618253 {source="MONDO:equivalentTo"} xref: Orphanet:2609 {source="OMIM:618253"} xref: UMLS:C4748840 {source="MEDGEN:1648420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112097", source="OMIM:618224", source="OMIM:618253"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7690 ! NDUFA6 @@ -506630,7 +507144,7 @@ xref: MEDGEN:1648363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618254 {source="MONDO:equivalentTo"} xref: UMLS:C4748841 {source="MEDGEN:1648363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618254"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618254"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111854", source="OMIM:618254"} ! primary ciliary dyskinesia [Term] id: MONDO:0032639 @@ -506648,7 +507162,7 @@ xref: Orphanet:255241 {source="OMIM:618257"} xref: Orphanet:90636 {source="OMIM:618257"} xref: UMLS:C4748855 {source="MEDGEN:1648378", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618257"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618257"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111637", source="OMIM:618257"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -506704,7 +507218,7 @@ xref: OMIM:618266 {source="MONDO:equivalentTo"} xref: Orphanet:611256 {source="MONDO:equivalentTo"} xref: UMLS:C4748873 {source="MEDGEN:1648343", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618266"} ! hereditary disease -is_a: MONDO:0020135 {source="OMIM:618266"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112327", source="OMIM:618266", source="Orphanet:611256"} ! pontocerebellar hypoplasia [Term] id: MONDO:0032644 @@ -506716,7 +507230,7 @@ xref: MEDGEN:1648390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618267 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618267"} xref: UMLS:C4748876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648390"} -is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to +is_a: MONDO:0100043 {source="OMIM:618267", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618267", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: predisposes_towards MONDO:0009176 {source="OMIM:618267"} ! epidermodysplasia verruciformis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -506778,7 +507292,7 @@ xref: MEDGEN:1648477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618275 {source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:618275"} xref: UMLS:C4748930 {source="MEDGEN:1648477", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0003037 {source="OMIM:618275"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0080582", source="OMIM:618275"} ! hypotrichosis is_a: MONDO:0003847 {source="OMIM:618275"} ! hereditary disease [Term] @@ -506831,7 +507345,7 @@ xref: MEDGEN:1648483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618282 {source="MONDO:equivalentTo"} xref: UMLS:C4748969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648483"} is_a: MONDO:0003847 {source="OMIM:618282"} ! hereditary disease -is_a: MONDO:0018037 {source="OMIM:618282"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="DOID:0080595", source="OMIM:618282"} ! hyper-IgE syndrome [Term] id: MONDO:0032655 @@ -506870,7 +507384,7 @@ xref: MEDGEN:1648381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618285 {source="MONDO:equivalentTo"} xref: UMLS:C4748988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648381"} is_a: MONDO:0003847 {source="OMIM:618285"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618285"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112205", source="OMIM:618285"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506908,7 +507422,7 @@ xref: MEDGEN:1648362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618291 {source="MONDO:equivalentTo"} xref: UMLS:C4749003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648362"} is_a: MONDO:0003847 {source="OMIM:618291"} ! hereditary disease -is_a: MONDO:0018190 {source="OMIM:618291"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy +is_a: MONDO:0018190 {source="DOID:0070350", source="OMIM:618291"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506941,7 +507455,7 @@ xref: MEDGEN:1648350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618295 {source="MONDO:equivalentTo"} xref: UMLS:C4749019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648350"} is_a: MONDO:0003847 {source="OMIM:618295"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081228", source="OMIM:618295"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032663 @@ -506961,7 +507475,7 @@ xref: OMIM:618298 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:618298"} xref: UMLS:C4749023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648407"} is_a: MONDO:0003847 {source="OMIM:618298"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618298"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112206", source="OMIM:618298"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -506979,7 +507493,7 @@ xref: MEDGEN:1648365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618300 {source="MONDO:equivalentTo"} xref: UMLS:C4749028 {source="MEDGEN:1648365", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618300"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618300"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111853", source="OMIM:618300"} ! primary ciliary dyskinesia [Term] id: MONDO:0032665 @@ -506995,7 +507509,7 @@ xref: MEDGEN:1648490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618302 {source="MONDO:equivalentTo"} xref: UMLS:C4749033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648490"} is_a: MONDO:0003847 {source="OMIM:618302"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081229", source="OMIM:618302"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032666 @@ -507008,7 +507522,7 @@ xref: NCIT:C176608 {source="MONDO:equivalentTo"} xref: OMIM:618307 {source="MONDO:equivalentTo"} xref: Orphanet:324294 {source="OMIM:618307"} xref: UMLS:C4749042 {source="MEDGEN:1648396", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to +is_a: MONDO:0100043 {source="OMIM:618307", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618307", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: predisposes_towards MONDO:0009176 {source="OMIM:618307"} ! epidermodysplasia verruciformis @@ -507021,7 +507535,7 @@ xref: MEDGEN:1648489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618309 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618309"} xref: UMLS:C4749043 {source="MEDGEN:1648489", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100043 {source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to +is_a: MONDO:0100043 {source="OMIM:618309", source="https://orcid.org/0000-0001-5208-3432"} ! epidermodysplasia verruciformis, susceptibility to relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618309", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease relationship: predisposes_towards MONDO:0009176 {source="OMIM:618309"} ! epidermodysplasia verruciformis @@ -507040,7 +507554,7 @@ xref: OMIM:618310 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618310"} xref: UMLS:C5193020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681154"} is_a: MONDO:0003847 {source="OMIM:618310"} ! hereditary disease -is_a: MONDO:0015253 {source="OMIM:618310"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111896", source="OMIM:618310"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032669 @@ -507057,7 +507571,7 @@ xref: OMIM:618312 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618312"} xref: UMLS:C5193021 {source="MEDGEN:1683070", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618312"} ! hereditary disease -is_a: MONDO:0015253 {source="OMIM:618312"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111886", source="OMIM:618312"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032670 @@ -507074,7 +507588,7 @@ xref: OMIM:618313 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:618313"} xref: UMLS:C5193022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674961"} is_a: MONDO:0003847 {source="OMIM:618313"} ! hereditary disease -is_a: MONDO:0015253 {source="OMIM:618313"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111891", source="OMIM:618313"} ! Diamond-Blackfan anemia [Term] id: MONDO:0032672 @@ -507176,7 +507690,7 @@ xref: Orphanet:557064 {source="MONDO:equivalentTo"} xref: UMLS:C5193030 {source="MEDGEN:1680812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618328"} ! hereditary disease is_a: MONDO:0019052 {source="Orphanet:557064", source="PMID:30575854"} ! inborn errors of metabolism -is_a: MONDO:0100062 {source="OMIM:618328"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112207", source="OMIM:618328"} ! developmental and epileptic encephalopathy is_a: MONDO:0600001 {source="Orphanet:557064", source="PMID:30575854", source="https://orcid.org/0000-0002-7437-8060"} ! glutaminase deficiency relationship: excluded_subClassOf MONDO:0017352 {source="Orphanet:557064", source="https://orcid.org/0000-0001-5208-3432"} ! disorder of glutamine metabolism relationship: has_characteristic MONDO:0021136 {source="Orphanet:557064", source="PMID:30575854"} ! rare @@ -507196,7 +507710,7 @@ xref: DOID:0111499 {source="MONDO:equivalentTo"} xref: MEDGEN:1675208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618329 {source="MONDO:equivalentTo"} xref: UMLS:C5193031 {source="MEDGEN:1675208", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618329"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111499", source="OMIM:618329"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618329"} ! hereditary disease [Term] @@ -507267,7 +507781,7 @@ xref: MEDGEN:1679765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618341 {source="MONDO:equivalentTo"} xref: UMLS:C5193038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679765"} is_a: MONDO:0003847 {source="OMIM:618341"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618341"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111914", source="OMIM:618341"} ! spermatogenic failure [Term] id: MONDO:0032687 @@ -507318,7 +507832,7 @@ xref: OMIM:618345 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618345"} xref: UMLS:C5193041 {source="MONDO:equivalentTo", source="MEDGEN:1682947", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618345"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:618345"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112142", source="OMIM:618345"} ! retinitis pigmentosa [Term] id: MONDO:0032690 @@ -507467,7 +507981,7 @@ xref: OMIM:618362 {source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:618362"} xref: UMLS:C5193054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679527"} is_a: MONDO:0003847 {source="OMIM:618362"} ! hereditary disease -is_a: MONDO:0015452 {source="OMIM:618362"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0112367", source="OMIM:618362"} ! Coffin-Siris syndrome is_a: MONDO:0700120 {source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! BAFopathy relationship: excluded_subClassOf MONDO:0015802 {source="OMIM:618362", source="https://github.com/monarch-initiative/mondo/issues/1466", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant non-syndromic intellectual disability relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11105 {source="OMIM:618362", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! SMARCC2 @@ -507525,7 +508039,7 @@ xref: MEDGEN:1672866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618369 {source="MONDO:equivalentTo"} xref: UMLS:C5193058 {source="MEDGEN:1672866", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618369"} ! hereditary disease -is_a: MONDO:0015244 {source="OMIM:618369"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0111616", source="OMIM:618369"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0032707 @@ -507555,7 +508069,7 @@ xref: MEDGEN:1681879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618374 {source="MONDO:equivalentTo"} xref: UMLS:C5193063 {source="MEDGEN:1681879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618374"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618374"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112208", source="OMIM:618374"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507569,7 +508083,7 @@ xref: DOID:0111466 {source="MONDO:equivalentTo"} xref: MEDGEN:1682102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618378 {source="MONDO:equivalentTo"} xref: UMLS:C5193064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682102"} -is_a: MONDO:0000732 {source="OMIM:618378"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111466", source="OMIM:618378"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618378"} ! hereditary disease [Term] @@ -507603,7 +508117,7 @@ xref: MEDGEN:1676539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618383 {source="MONDO:equivalentTo"} xref: UMLS:C5193067 {source="MEDGEN:1676539", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618383"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081230", source="OMIM:618383"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032716 @@ -507657,7 +508171,7 @@ xref: NORD:2027 {source="MONDO:NORD"} xref: OMIM:618392 {source="MONDO:equivalentTo"} xref: UMLS:C5193071 {source="MEDGEN:1683128", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618392"} ! hereditary disease -is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112283", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0032723 @@ -507695,7 +508209,7 @@ xref: Orphanet:93359 {source="OMIM:618395"} xref: UMLS:C5193073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677378"} is_a: MONDO:0003847 {source="OMIM:618395"} ! hereditary disease is_a: MONDO:0006025 {source="DOID:0112200"} ! autosomal recessive disease -is_a: MONDO:0019675 {source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity +is_a: MONDO:0019675 {source="DOID:0112200", source="OMIM:618395"} ! spondyloepimetaphyseal dysplasia with joint laxity property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -507716,7 +508230,7 @@ xref: OMIM:618396 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618396"} xref: UMLS:C5193074 {source="MEDGEN:1680535", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618396"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618396"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112210", source="OMIM:618396"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -507735,7 +508249,7 @@ xref: MEDGEN:1683958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618397 {source="MONDO:equivalentTo"} xref: Orphanet:565624 {source="MONDO:equivalentTo", source="OMIM:618397"} xref: UMLS:C5193075 {source="MEDGEN:1683958", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618397"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111475", source="OMIM:618397"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="OMIM:618397"} ! hereditary disease [Term] @@ -507753,7 +508267,7 @@ xref: MEDGEN:1677426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618400 {source="MONDO:equivalentTo"} xref: UMLS:C5193076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677426"} is_a: MONDO:0003847 {source="OMIM:618400"} ! hereditary disease -is_a: MONDO:0018993 {source="OMIM:618400", source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease type 2 +is_a: MONDO:0018993 {source="DOID:0111559", source="OMIM:618400", source="https://orcid.org/0000-0002-6601-2165"} ! Charcot-Marie-Tooth disease type 2 [Term] id: MONDO:0032729 @@ -507771,7 +508285,7 @@ xref: OMIM:618402 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:618402"} xref: UMLS:C5193077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1679317"} is_a: MONDO:0003847 {source="OMIM:618402"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081231", source="OMIM:618402"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032730 @@ -507786,7 +508300,7 @@ xref: MEDGEN:1680067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618404 {source="MONDO:equivalentTo"} xref: UMLS:C5193078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680067"} is_a: MONDO:0003847 {source="OMIM:618404"} ! hereditary disease -is_a: MONDO:0019046 {source="OMIM:618404"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070399", source="OMIM:618404"} ! leukodystrophy [Term] id: MONDO:0032732 @@ -507804,7 +508318,7 @@ xref: Orphanet:90635 {source="OMIM:618410"} xref: Orphanet:90636 {source="OMIM:618410"} xref: UMLS:C5193079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674289"} is_a: MONDO:0003847 {source="OMIM:618410"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618410"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111636", source="OMIM:618410"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -507833,7 +508347,7 @@ xref: OMIM:618415 {source="MONDO:equivalentTo"} xref: Orphanet:98994 {source="OMIM:618415"} xref: UMLS:C5193082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684457"} is_a: MONDO:0003847 {source="OMIM:618415"} ! hereditary disease -is_a: MONDO:0005129 {source="OMIM:618415"} ! cataract +is_a: MONDO:0005129 {source="DOID:0070354", source="OMIM:618415"} ! cataract [Term] id: MONDO:0032736 @@ -507862,7 +508376,7 @@ xref: OMIM:618418 {source="MONDO:equivalentTo"} xref: Orphanet:631068 {source="MONDO:equivalentTo"} xref: UMLS:C5193084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682111"} is_a: MONDO:0003847 {source="OMIM:618418"} ! hereditary disease -is_a: MONDO:0019064 {source="OMIM:618418"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0112341", source="OMIM:618418"} ! hereditary spastic paraplegia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI [Term] @@ -507891,7 +508405,7 @@ xref: MEDGEN:1678385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618420 {source="MONDO:equivalentTo"} xref: UMLS:C5193086 {source="MEDGEN:1678385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618420"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618420"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111921", source="OMIM:618420"} ! spermatogenic failure [Term] id: MONDO:0032740 @@ -507908,7 +508422,7 @@ xref: OMIM:618422 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618422"} xref: UMLS:C5193087 {source="MEDGEN:1682525", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618422"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618422"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111638", source="OMIM:618422"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -507952,7 +508466,7 @@ xref: OMIM:618429 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618429"} xref: UMLS:C5193091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677534"} is_a: MONDO:0003847 {source="OMIM:618429"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618429"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111927", source="OMIM:618429"} ! spermatogenic failure [Term] id: MONDO:0032745 @@ -508016,7 +508530,7 @@ xref: OMIM:618433 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618433"} xref: UMLS:C5193095 {source="MEDGEN:1680356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618433"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618433"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111919", source="OMIM:618433"} ! spermatogenic failure [Term] id: MONDO:0032749 @@ -508033,7 +508547,7 @@ xref: OMIM:618434 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618434"} xref: UMLS:C5193096 {source="MEDGEN:1679077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618434"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618434"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111641", source="OMIM:618434"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -508098,7 +508612,7 @@ xref: OMIM:618437 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618437"} xref: UMLS:C5193099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684253"} is_a: MONDO:0003847 {source="OMIM:618437"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618437"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112211", source="OMIM:618437"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508159,7 +508673,7 @@ xref: OMIM:618449 {source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:618449"} xref: UMLS:C5193103 {source="MEDGEN:1680404", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618449"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618449"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111858", source="OMIM:618449"} ! primary ciliary dyskinesia [Term] id: MONDO:0032758 @@ -508207,7 +508721,7 @@ xref: OMIM:618456 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618456"} xref: UMLS:C5193107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684024"} is_a: MONDO:0003847 {source="OMIM:618456"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618456"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111642", source="OMIM:618456"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -508224,7 +508738,7 @@ xref: MEDGEN:1681630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618457 {source="MONDO:equivalentTo"} xref: UMLS:C5193108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681630"} is_a: MONDO:0003847 {source="OMIM:618457"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618457"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111643", source="OMIM:618457"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -508324,7 +508838,7 @@ xref: OMIM:618468 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618468"} xref: UMLS:C5193113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673011"} is_a: MONDO:0003847 {source="OMIM:618468"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618468"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112212", source="OMIM:618468"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508426,7 +508940,7 @@ xref: OMIM:618481 {source="MONDO:equivalentTo"} xref: Orphanet:90636 {source="OMIM:618481"} xref: UMLS:C4760579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678930"} is_a: MONDO:0003847 {source="OMIM:618481"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:618481"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111634", source="OMIM:618481"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -508445,7 +508959,7 @@ xref: OMIM:618482 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:618482"} xref: UMLS:C5193120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676426"} is_a: MONDO:0003847 {source="OMIM:618482"} ! hereditary disease -is_a: MONDO:0018214 {source="OMIM:618482"} ! generalized epilepsy with febrile seizures plus +is_a: MONDO:0018214 {source="DOID:0111296", source="OMIM:618482"} ! generalized epilepsy with febrile seizures plus [Term] id: MONDO:0032778 @@ -508461,7 +508975,7 @@ xref: OMIM:618484 {source="MONDO:equivalentTo"} xref: Orphanet:319332 {source="OMIM:618484"} xref: UMLS:C5193121 {source="MEDGEN:1680655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618484"} ! hereditary disease -is_a: MONDO:0015168 {source="OMIM:618484"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0080979", source="OMIM:618484"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17089 ! SYNE1 @@ -508532,7 +509046,7 @@ xref: MEDGEN:1681142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618496 {source="MONDO:equivalentTo"} xref: UMLS:C5193127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681142"} is_a: MONDO:0003847 {source="OMIM:618496"} ! hereditary disease -is_a: MONDO:0007194 {source="OMIM:618496"} ! familial bicuspid aortic valve +is_a: MONDO:0007194 {source="DOID:0080977", source="OMIM:618496"} ! familial bicuspid aortic valve intersection_of: MONDO:0003803 ! aortic valve disorder intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17985 ! ROBO4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7412" xsd:anyURI @@ -508581,7 +509095,7 @@ xref: OMIM:618499 {source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:618499"} xref: UMLS:C5193130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681177"} is_a: MONDO:0003847 {source="OMIM:618499"} ! hereditary disease -is_a: MONDO:0018997 {source="OMIM:618499"} ! Noonan syndrome +is_a: MONDO:0018997 {source="DOID:0112169", source="OMIM:618499"} ! Noonan syndrome [Term] id: MONDO:0032787 @@ -508599,7 +509113,7 @@ xref: MEDGEN:1684550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618500 {source="MONDO:equivalentTo"} xref: UMLS:C5193131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684550"} is_a: MONDO:0003847 {source="OMIM:618500"} ! hereditary disease -is_a: MONDO:0016296 {source="OMIM:618500"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0081398", source="OMIM:618500"} ! holoprosencephaly property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508626,7 +509140,7 @@ xref: MEDGEN:1673448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618504 {source="MONDO:equivalentTo"} xref: UMLS:C5193133 {source="MEDGEN:1673448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618504"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081232", source="OMIM:618504"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032790 @@ -508656,7 +509170,7 @@ xref: MEDGEN:1683634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618506 {source="MONDO:equivalentTo"} xref: UMLS:C4760583 {source="MEDGEN:1683634", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618506"} ! hereditary disease -is_a: MONDO:0015452 {source="OMIM:618506"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0112371", source="OMIM:618506"} ! Coffin-Siris syndrome [Term] id: MONDO:0032792 @@ -508703,7 +509217,7 @@ xref: OMIM:618513 {source="MONDO:equivalentTo"} xref: Orphanet:65 {source="OMIM:618513"} xref: UMLS:C5193139 {source="MEDGEN:1679297", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618513"} ! hereditary disease -is_a: MONDO:0018998 {source="OMIM:618513"} ! Leber congenital amaurosis +is_a: MONDO:0018998 {source="DOID:0081169", source="OMIM:618513"} ! Leber congenital amaurosis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -508739,7 +509253,7 @@ xref: MEDGEN:1673363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618523 {source="MONDO:equivalentTo"} xref: UMLS:C5193141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673363"} is_a: MONDO:0003847 {source="OMIM:618523"} ! hereditary disease -is_a: MONDO:0018037 {source="OMIM:618523"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="DOID:0080596", source="OMIM:618523"} ! hyper-IgE syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -508755,7 +509269,7 @@ xref: MEDGEN:1684886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618524 {source="MONDO:equivalentTo"} xref: UMLS:C5231401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684886"} is_a: MONDO:0003847 {source="OMIM:618524"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618524"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081348", source="OMIM:618524"} ! congenital myopathy [Term] id: MONDO:0032798 @@ -508782,7 +509296,7 @@ xref: MEDGEN:1684495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618528 {source="MONDO:equivalentTo"} xref: UMLS:C5193142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684495"} is_a: MONDO:0003847 {source="OMIM:618528"} ! hereditary disease -is_a: MONDO:0018158 {source="OMIM:618528"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070446", source="OMIM:618528"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0032800 @@ -508814,7 +509328,7 @@ xref: OMIM:618531 {source="MONDO:equivalentTo"} xref: Orphanet:316 {source="OMIM:618531"} xref: UMLS:C5193144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681026"} is_a: MONDO:0003847 {source="OMIM:618531"} ! hereditary disease -is_a: MONDO:0017851 {source="OMIM:618531"} ! erythrokeratodermia variabilis +is_a: MONDO:0017851 {source="DOID:0080766", source="OMIM:618531"} ! erythrokeratodermia variabilis [Term] id: MONDO:0032802 @@ -508864,7 +509378,7 @@ xref: OMIM:618535 {source="MONDO:equivalentTo"} xref: Orphanet:248 {source="OMIM:618535"} xref: UMLS:C5193145 {source="MEDGEN:1680605", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618535"} ! hereditary disease -is_a: MONDO:0019287 {source="OMIM:618535"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111651", source="OMIM:618535"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0032805 @@ -508927,7 +509441,7 @@ xref: UMLS:C5231405 {source="MEDGEN:1684735", source="MONDO:equivalentTo", sourc is_a: MONDO:0003847 {source="OMIM:618548"} ! hereditary disease is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis is_a: MONDO:0100062 {source="OMIM:618548"} ! developmental and epileptic encephalopathy -is_a: MONDO:0100247 {source="OMIM:618548"} ! multiple congenital anomalies-hypotonia-seizures syndrome +is_a: MONDO:0100247 {source="DOID:0112213", source="OMIM:618548"} ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: MONDO:0100247 ! multiple congenital anomalies-hypotonia-seizures syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 ! PIGQ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14135 {source="OMIM:618548"} ! PIGQ @@ -508993,7 +509507,7 @@ xref: OMIM:618557 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618557"} xref: UMLS:C5231409 {source="MEDGEN:1684724", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618557"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618557"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112214", source="OMIM:618557"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509014,7 +509528,7 @@ xref: OMIM:618559 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="OMIM:618559"} xref: UMLS:C5231410 {source="MEDGEN:1684738", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618559"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618559"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112215", source="OMIM:618559"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509049,7 +509563,7 @@ xref: MEDGEN:1684823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618567 {source="MONDO:equivalentTo"} xref: UMLS:C5231412 {source="MEDGEN:1684823", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618567"} ! hereditary disease -is_a: MONDO:0018158 {source="OMIM:618567"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070448", source="OMIM:618567"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0032816 @@ -509147,7 +509661,7 @@ xref: MEDGEN:1684769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618578 {source="MONDO:equivalentTo"} xref: UMLS:C5231417 {source="MEDGEN:1684769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618578"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618578"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081351", source="OMIM:618578"} ! congenital myopathy [Term] id: MONDO:0032822 @@ -509167,7 +509681,7 @@ xref: OMIM:618580 {source="MONDO:equivalentTo"} xref: UMLS:C5231418 {source="MEDGEN:1684779", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618580"} ! hereditary disease is_a: MONDO:0024321 {source="https://orcid.org/0000-0001-6330-7526"} ! disorder of GPI anchor biosynthesis -is_a: MONDO:0100062 {source="OMIM:618580"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112216", source="OMIM:618580"} ! developmental and epileptic encephalopathy relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8959 {source="OMIM:618580"} ! PIGB property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -509209,7 +509723,7 @@ xref: DOID:0112267 {source="MONDO:equivalentTo"} xref: MEDGEN:1684676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618594 {source="MONDO:equivalentTo"} xref: UMLS:C5231498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684676"} -is_a: MONDO:0002350 {source="OMIM:618594"} ! familial nephrotic syndrome +is_a: MONDO:0002350 {source="DOID:0112267", source="OMIM:618594"} ! familial nephrotic syndrome is_a: MONDO:0003847 {source="OMIM:618594"} ! hereditary disease [Term] @@ -509282,7 +509796,7 @@ xref: OMIM:618606 {source="MONDO:equivalentTo"} xref: Orphanet:613267 {source="MONDO:equivalentTo"} xref: UMLS:C5231425 {source="MEDGEN:1684708", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618606"} ! hereditary disease -is_a: MONDO:0020135 {source="OMIM:618606"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112332", source="OMIM:618606", source="Orphanet:613267"} ! pontocerebellar hypoplasia [Term] id: MONDO:0032832 @@ -509323,7 +509837,7 @@ xref: OMIM:618613 {source="MONDO:equivalentTo"} xref: Orphanet:791 {source="OMIM:618613"} xref: UMLS:C5231428 {source="MEDGEN:1684789", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618613"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:618613"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112143", source="OMIM:618613"} ! retinitis pigmentosa [Term] id: MONDO:0032835 @@ -509340,7 +509854,7 @@ xref: OMIM:618618 {source="MONDO:equivalentTo"} xref: Orphanet:163649 {source="OMIM:618618"} xref: UMLS:C4305147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:930816"} is_a: MONDO:0003847 {source="OMIM:618618"} ! hereditary disease -is_a: MONDO:0016761 {source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia +is_a: MONDO:0016761 {source="DOID:0112288", source="https://orcid.org/0000-0002-6601-2165"} ! spondyloepiphyseal dysplasia [Term] id: MONDO:0032836 @@ -509369,7 +509883,7 @@ xref: DOID:0080945 {source="MONDO:equivalentTo"} xref: MEDGEN:1704861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618620 {source="MONDO:equivalentTo"} xref: UMLS:C5231430 {source="MEDGEN:1704861", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000816 {source="OMIM:618620"} ! abdominal obesity-metabolic syndrome +is_a: MONDO:0000816 {source="DOID:0080945", source="OMIM:618620"} ! abdominal obesity-metabolic syndrome is_a: MONDO:0003847 {source="OMIM:618620"} ! hereditary disease [Term] @@ -509400,7 +509914,7 @@ xref: OMIM:618624 {source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:618624"} xref: UMLS:C5231432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684730"} is_a: MONDO:0003847 {source="OMIM:618624"} ! hereditary disease -is_a: MONDO:0018997 {source="OMIM:618624"} ! Noonan syndrome +is_a: MONDO:0018997 {source="DOID:0112170", source="OMIM:618624"} ! Noonan syndrome [Term] id: MONDO:0032841 @@ -509472,7 +509986,7 @@ xref: OMIM:618643 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618643"} xref: UMLS:C5231438 {source="MEDGEN:1684778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618643"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618643"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111926", source="OMIM:618643"} ! spermatogenic failure [Term] id: MONDO:0032846 @@ -509486,7 +510000,7 @@ xref: MEDGEN:1684751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618644 {source="MONDO:equivalentTo"} xref: UMLS:C5231439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684751"} is_a: MONDO:0003847 {source="OMIM:618644"} ! hereditary disease -is_a: MONDO:0019019 {source="OMIM:618644"} ! osteogenesis imperfecta +is_a: MONDO:0019019 {source="DOID:0111849", source="OMIM:618644"} ! osteogenesis imperfecta [Term] id: MONDO:0032848 @@ -509554,7 +510068,7 @@ xref: MEDGEN:1684705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618654 {source="MONDO:equivalentTo"} xref: UMLS:C5231445 {source="MEDGEN:1684705", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618654"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618654"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081342", source="OMIM:618654"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -509633,7 +510147,7 @@ xref: MEDGEN:1684681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618663 {source="MONDO:equivalentTo"} xref: UMLS:C5231450 {source="MEDGEN:1684681", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618663"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618663"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112217", source="OMIM:618663"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -509650,7 +510164,7 @@ xref: OMIM:618664 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618664"} xref: UMLS:C5231451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684662"} is_a: MONDO:0003847 {source="OMIM:618664"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618664"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111918", source="OMIM:618664"} ! spermatogenic failure [Term] id: MONDO:0032860 @@ -509666,7 +510180,7 @@ xref: MEDGEN:1684805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618665 {source="MONDO:equivalentTo"} xref: UMLS:C5231452 {source="MEDGEN:1684805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618665"} ! hereditary disease -is_a: MONDO:0019502 {source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0080765", source="OMIM:618665"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0032862 @@ -509698,7 +510212,7 @@ xref: OMIM:618670 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:618670"} xref: UMLS:C5231455 {source="MEDGEN:1684739", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618670"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618670"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111912", source="OMIM:618670"} ! spermatogenic failure [Term] id: MONDO:0032864 @@ -509774,7 +510288,7 @@ xref: OMIM:618683 {source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="OMIM:618683"} xref: UMLS:C5231461 {source="MONDO:equivalentTo", source="MEDGEN:1684729", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618683"} ! hereditary disease -is_a: MONDO:0014471 {source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0111749", source="OMIM:618683"} ! mitochondrial proton-transporting ATP synthase complex deficiency [Term] id: MONDO:0032870 @@ -509804,7 +510318,7 @@ xref: MEDGEN:1684698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618688 {source="MONDO:equivalentTo"} xref: UMLS:C5231463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684698"} is_a: MONDO:0003847 {source="OMIM:618688"} ! hereditary disease -is_a: MONDO:0019046 {source="OMIM:618688"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070400", source="OMIM:618688"} ! leukodystrophy [Term] id: MONDO:0032872 @@ -509823,7 +510337,7 @@ xref: OMIM:618695 {source="MONDO:equivalentTo"} xref: Orphanet:244 {source="OMIM:618695"} xref: UMLS:C5231464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684665"} is_a: MONDO:0003847 {source="OMIM:618695"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618695"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111855", source="OMIM:618695"} ! primary ciliary dyskinesia [Term] id: MONDO:0032873 @@ -509860,7 +510374,7 @@ xref: MEDGEN:1684675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618699 {source="MONDO:equivalentTo"} xref: UMLS:C5231466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684675"} is_a: MONDO:0003847 {source="OMIM:618699"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618699"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111856", source="OMIM:618699"} ! primary ciliary dyskinesia [Term] id: MONDO:0032875 @@ -509939,7 +510453,7 @@ xref: MEDGEN:1684694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618721 {source="MONDO:equivalentTo"} xref: UMLS:C5231473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684694"} is_a: MONDO:0003847 {source="OMIM:618721"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618721"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080715", source="OMIM:618721"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510093,7 +510607,7 @@ xref: MEDGEN:1684660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618734 {source="MONDO:equivalentTo"} xref: UMLS:C5231484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684660"} is_a: MONDO:0003847 {source="OMIM:618734"} ! hereditary disease -is_a: MONDO:0016483 {source="OMIM:618734"} ! intracranial berry aneurysm +is_a: MONDO:0016483 {source="DOID:0080975", source="OMIM:618734"} ! intracranial berry aneurysm [Term] id: MONDO:0032892 @@ -510149,7 +510663,7 @@ xref: MEDGEN:1684784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618744 {source="MONDO:equivalentTo"} xref: UMLS:C5231487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684784"} is_a: MONDO:0003847 {source="OMIM:618744"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618744"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112218", source="OMIM:618744"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510166,7 +510680,7 @@ xref: MEDGEN:1684744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618745 {source="MONDO:equivalentTo"} xref: UMLS:C5231488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684744"} is_a: MONDO:0003847 {source="OMIM:618745"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618745"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111923", source="OMIM:618745"} ! spermatogenic failure [Term] id: MONDO:0032897 @@ -510193,7 +510707,7 @@ xref: MEDGEN:1684830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618751 {source="MONDO:equivalentTo"} xref: UMLS:C5231490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684830"} is_a: MONDO:0003847 {source="OMIM:618751"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:618751"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111917", source="OMIM:618751"} ! spermatogenic failure [Term] id: MONDO:0032899 @@ -510270,7 +510784,7 @@ xref: MEDGEN:1684706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618766 {source="MONDO:equivalentTo"} xref: UMLS:C5231494 {source="MEDGEN:1684706", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618766"} ! hereditary disease -is_a: MONDO:0015168 {source="OMIM:618766"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0080980", source="OMIM:618766"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/19286 ! SCYL2 @@ -510290,7 +510804,7 @@ xref: OMIM:618767 {source="MONDO:equivalentTo"} xref: Orphanet:98954 xref: UMLS:C5231495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684798"} is_a: MONDO:0003847 {source="OMIM:618767"} ! hereditary disease -is_a: MONDO:0007379 {source="OMIM:618767"} ! Meesmann corneal dystrophy +is_a: MONDO:0007379 {source="DOID:0080671", source="OMIM:618767"} ! Meesmann corneal dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510325,7 +510839,7 @@ xref: OMIM:618770 {source="MONDO:equivalentTo"} xref: Orphanet:631073 {source="MONDO:equivalentTo"} xref: UMLS:C5394037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710411"} is_a: MONDO:0003847 {source="OMIM:618770"} ! hereditary disease -is_a: MONDO:0019064 {source="OMIM:618770"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0112343", source="OMIM:618770"} ! hereditary spastic paraplegia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7469" xsd:anyURI @@ -510388,7 +510902,7 @@ xref: MEDGEN:1720533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618776 {source="MONDO:equivalentTo"} xref: UMLS:C5394053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720533"} is_a: MONDO:0003847 {source="OMIM:618224"} ! hereditary disease -is_a: MONDO:0100223 {source="OMIM:618224"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112091", source="OMIM:618224", source="OMIM:618776"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/33551 ! NDUFAF8 @@ -510408,7 +510922,7 @@ xref: MEDGEN:1713569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618778 {source="MONDO:equivalentTo"} xref: UMLS:C5394059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713569"} is_a: MONDO:0003847 {source="OMIM:618778"} ! hereditary disease -is_a: MONDO:0019587 {source="OMIM:618778"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112166", source="OMIM:618778"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510427,7 +510941,7 @@ xref: MEDGEN:1717402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618779 {source="MONDO:equivalentTo"} xref: UMLS:C5241442 {source="MEDGEN:1717402", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618779"} ! hereditary disease -is_a: MONDO:0015452 {source="OMIM:618779"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0112372", source="OMIM:618779"} ! Coffin-Siris syndrome [Term] id: MONDO:0032913 @@ -510459,7 +510973,7 @@ xref: MEDGEN:1716408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618781 {source="MONDO:equivalentTo"} xref: UMLS:C5394063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716408"} is_a: MONDO:0003847 {source="OMIM:618781"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618781"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111851", source="OMIM:618781"} ! primary ciliary dyskinesia [Term] id: MONDO:0032915 @@ -510511,7 +511025,7 @@ xref: MEDGEN:1710038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618787 {source="MONDO:equivalentTo"} xref: UMLS:C5394080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710038"} is_a: MONDO:0003847 {source="OMIM:618787"} ! hereditary disease -is_a: MONDO:0019587 {source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112167", source="OMIM:618787"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -510535,7 +511049,7 @@ xref: NORD:102487 {source="MONDO:NORD"} xref: OMIM:618792 {source="MONDO:equivalentTo"} xref: UMLS:C5394081 {source="MEDGEN:1720141", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618792"} ! hereditary disease -is_a: MONDO:0100062 {source="OMIM:618792"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112219", source="OMIM:618792"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -510604,7 +511118,7 @@ xref: MEDGEN:1712568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618800 {source="MONDO:equivalentTo"} xref: UMLS:C5394101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712568"} is_a: MONDO:0003847 {source="OMIM:618800"} ! hereditary disease -is_a: MONDO:0015244 {source="OMIM:618800"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070409", source="OMIM:618800"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0032924 @@ -510622,7 +511136,7 @@ xref: MEDGEN:1714988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618801 {source="MONDO:equivalentTo"} xref: UMLS:C5394104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714988"} is_a: MONDO:0003847 {source="OMIM:618801"} ! hereditary disease -is_a: MONDO:0016575 {source="OMIM:618801"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111857", source="OMIM:618801"} ! primary ciliary dyskinesia [Term] id: MONDO:0032925 @@ -510718,7 +511232,7 @@ xref: MEDGEN:1713890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618811 {source="MONDO:equivalentTo"} xref: UMLS:C5394140 {source="MEDGEN:1713890", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618811"} ! hereditary disease -is_a: MONDO:0018158 {source="OMIM:618811"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070449", source="OMIM:618811"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0032933 @@ -510781,7 +511295,7 @@ xref: MEDGEN:1718097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618822 {source="MONDO:equivalentTo"} xref: UMLS:C5394189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718097"} is_a: MONDO:0003847 {source="OMIM:618822"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618822"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081343", source="OMIM:618822"} ! congenital myopathy [Term] id: MONDO:0032937 @@ -510796,7 +511310,7 @@ xref: MEDGEN:1717569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618823 {source="MONDO:equivalentTo"} xref: UMLS:C5394193 {source="MEDGEN:1717569", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:618823"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618823"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081344", source="OMIM:618823"} ! congenital myopathy [Term] id: MONDO:0032938 @@ -510845,7 +511359,7 @@ xref: MEDGEN:1720448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618826 {source="MONDO:equivalentTo"} xref: UMLS:C5394208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1720448"} is_a: MONDO:0003847 {source="OMIM:618826"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:618826"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112145", source="OMIM:618826"} ! retinitis pigmentosa [Term] id: MONDO:0032941 @@ -510913,6 +511427,7 @@ xref: MEDGEN:1621793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:263200 {source="MONDO:equivalentTo", source="DOID:0080212"} xref: Orphanet:731 {source="MONDO:relatedTo", source="OMIM:263200"} xref: UMLS:C4540575 {source="MONDO:equivalentTo", source="MEDGEN:1621793", source="MONDO:MEDGEN"} +is_a: MONDO:0009889 {source="DOID:0080212"} ! autosomal recessive polycystic kidney disease is_a: MONDO:0020642 {source="OMIM:263200"} ! polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -510944,7 +511459,7 @@ xref: MEDGEN:1634188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251300 {source="MONDO:equivalentTo"} xref: Orphanet:2065 {source="OMIM:251300"} xref: UMLS:C4551772 {source="MEDGEN:1634188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009627 {source="OMIM:251300"} ! Galloway-Mowat syndrome +is_a: MONDO:0009627 {source="DOID:0060364", source="OMIM:251300"} ! Galloway-Mowat syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:251300"} ! Autosomal recessive inheritance [Term] @@ -511037,7 +511552,7 @@ xref: Orphanet:316 {source="OMIM:133200"} xref: Orphanet:317 {source="OMIM:133200"} xref: Orphanet:495 {source="OMIM:133200", source="MONDO:directSiblingOf"} xref: UMLS:C4551486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633225"} -is_a: MONDO:0017851 {source="OMIM:133200"} ! erythrokeratodermia variabilis +is_a: MONDO:0017851 {source="DOID:0111195", source="OMIM:133200"} ! erythrokeratodermia variabilis [Term] id: MONDO:0033012 @@ -511160,7 +511675,7 @@ xref: DOID:0080254 {source="MONDO:equivalentTo"} xref: MEDGEN:1620071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617563 {source="DOID:0080254", source="MONDO:equivalentTo"} xref: UMLS:C4539729 {source="MEDGEN:1620071", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015375 {source="DOID:0080254"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0080254", source="OMIM:617563"} ! orofaciodigital syndrome [Term] id: MONDO:0033046 @@ -511248,7 +511763,7 @@ xref: DOID:0080259 {source="MONDO:equivalentTo"} xref: MEDGEN:1618081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617584 {source="MONDO:equivalentTo", source="DOID:0080259"} xref: UMLS:C4539808 {source="MONDO:equivalentTo", source="MEDGEN:1618081", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="DOID:0080259"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080259", source="OMIM:617584"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0033116 @@ -511263,7 +511778,7 @@ xref: DOID:0080260 {source="MONDO:equivalentTo"} xref: MEDGEN:1617917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617633 {source="MONDO:equivalentTo", source="DOID:0080260"} xref: UMLS:C4539948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617917"} -is_a: MONDO:0015244 {source="DOID:0080260"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0080260", source="OMIM:617633"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0033123 @@ -511302,6 +511817,7 @@ xref: OMIM:618279 {source="MONDO:equivalentTo", source="Orphanet:476394"} xref: Orphanet:476394 {source="MONDO:equivalentTo", source="OMIM:618279"} xref: UMLS:C4748940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648290"} is_a: MONDO:0000001 {source="Orphanet:476394"} ! disease +is_a: MONDO:0000426 {source="DOID:0111560"} ! autosomal dominant disease is_a: MONDO:0015626 {source="OMIM:618279"} ! Charcot-Marie-Tooth disease relationship: has_characteristic HP:0000006 {source="Orphanet:476394"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9117 {source="Orphanet:476394"} ! PMP2 @@ -511410,7 +511926,7 @@ xref: DOID:0111635 {source="MONDO:equivalentTo"} xref: MEDGEN:1631180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618003 {source="MONDO:equivalentTo"} xref: UMLS:C4693893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631180"} -is_a: MONDO:0019588 {source="OMIM:618003"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111635", source="OMIM:618003"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -511426,7 +511942,7 @@ xref: DOID:0111639 {source="MONDO:equivalentTo"} xref: MEDGEN:1633308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618013 {source="MONDO:equivalentTo"} xref: UMLS:C4693935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633308"} -is_a: MONDO:0019588 {source="OMIM:618013"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111639", source="OMIM:618013"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -511602,6 +512118,7 @@ xref: MEDGEN:1624679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617610 {source="DOID:0080273", source="MONDO:equivalentTo"} xref: Orphanet:731 {source="OMIM:617610", source="MONDO:relatedTo"} xref: UMLS:C4539903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624679"} +is_a: MONDO:0009889 {source="DOID:0080273"} ! autosomal recessive polycystic kidney disease is_a: MONDO:0020642 {source="OMIM:617610"} ! polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance @@ -511626,7 +512143,7 @@ xref: OMIM:617613 {source="DOID:0080274", source="MONDO:equivalentTo"} xref: Orphanet:569274 {source="MONDO:equivalentTo"} xref: UMLS:C4539919 {source="MEDGEN:1623132", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004069 {source="DOID:0080274", source="MONDO:indirect"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0017338 {source="OMIM:617613"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0080274", source="OMIM:617613", source="Orphanet:569274"} ! fatal multiple mitochondrial dysfunctions syndrome [Term] id: MONDO:0033304 @@ -511635,7 +512152,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0111757 {source="MONDO:equivalentTo"} xref: OMIMPS:400043 {source="MONDO:equivalentTo"} +is_a: MONDO:0000428 {source="DOID:0111757"} ! Y-linked disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:0019497 {source="DOID:0111757"} ! nonsyndromic genetic hearing loss intersection_of: MONDO:0019497 ! nonsyndromic genetic hearing loss intersection_of: has_characteristic HP:0001450 ! Y-linked inheritance relationship: has_characteristic MONDO:0021152 {source="OMIMPS:400043"} ! inherited @@ -511798,7 +512317,7 @@ xref: MEDGEN:1376462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617350 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617350"} xref: UMLS:C4479236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1376462"} -is_a: MONDO:0100062 {source="OMIM:617350"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080455", source="OMIM:617350"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511817,7 +512336,7 @@ xref: MEDGEN:1374886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617389 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617389"} xref: UMLS:C4479313 {source="MEDGEN:1374886", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:617389"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080464", source="OMIM:617389"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511839,7 +512358,7 @@ xref: NORD:146101 {source="MONDO:NORD"} xref: OMIM:617391 {source="MONDO:equivalentTo"} xref: Orphanet:1934 {source="OMIM:617391"} xref: UMLS:C4479319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1392637"} -is_a: MONDO:0100062 {source="OMIM:617391"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080418", source="OMIM:617391"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511954,7 +512473,7 @@ xref: GARD:16270 {source="MONDO:GARD"} xref: MEDGEN:1638894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617929 {source="MONDO:equivalentTo"} xref: UMLS:C4693663 {source="MEDGEN:1638894", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:617929"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080432", source="OMIM:617929"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511971,7 +512490,7 @@ xref: DOID:0080434 {source="MONDO:equivalentTo"} xref: MEDGEN:1639392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617933 {source="MONDO:equivalentTo"} xref: UMLS:C4693688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639392"} -is_a: MONDO:0100062 {source="OMIM:617933"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080434", source="OMIM:617933"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -511989,7 +512508,7 @@ xref: GARD:16271 {source="MONDO:GARD"} xref: MEDGEN:1631233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617938 {source="MONDO:equivalentTo"} xref: UMLS:C4693699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631233"} -is_a: MONDO:0100062 {source="OMIM:617938"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080420", source="OMIM:617938"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512006,7 +512525,7 @@ xref: DOID:0080426 {source="MONDO:equivalentTo"} xref: MEDGEN:1646846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617976 {source="MONDO:equivalentTo"} xref: UMLS:C4693810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646846"} -is_a: MONDO:0100062 {source="OMIM:617976"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080426", source="OMIM:617976"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512023,7 +512542,7 @@ xref: DOID:0070375 {source="MONDO:equivalentTo"} xref: MEDGEN:1633501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618004 {source="MONDO:equivalentTo"} xref: UMLS:C4693899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633501"} -is_a: MONDO:0100062 {source="OMIM:618004"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070375", source="OMIM:618004"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512042,7 +512561,7 @@ xref: GARD:16283 {source="MONDO:GARD"} xref: MEDGEN:1634676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618008 {source="MONDO:equivalentTo"} xref: UMLS:C4693925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634676"} -is_a: MONDO:0100062 {source="OMIM:618008"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080430", source="OMIM:618008"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -512059,7 +512578,7 @@ xref: DOID:0080289 {source="MONDO:equivalentTo"} xref: MEDGEN:1644516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617926 {source="MONDO:equivalentTo", source="DOID:0080289"} xref: UMLS:C4693640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644516"} -is_a: MONDO:0015375 {source="DOID:0080289"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0080289", source="OMIM:617926"} ! orofaciodigital syndrome [Term] id: MONDO:0033479 @@ -512141,7 +512660,7 @@ xref: MEDGEN:1636349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617931 {source="MONDO:equivalentTo"} xref: Orphanet:642747 {source="MONDO:equivalentTo"} xref: UMLS:C4693672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636349"} -is_a: MONDO:0020380 {source="OMIM:617931"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0111743", source="OMIM:617931", source="Orphanet:642747"} ! autosomal dominant cerebellar ataxia [Term] id: MONDO:0033483 @@ -512258,7 +512777,7 @@ xref: DOID:0112113 {source="MONDO:equivalentTo"} xref: MEDGEN:1731010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618951 {source="MONDO:equivalentTo"} xref: UMLS:C5436461 {source="MEDGEN:1731010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618951"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112113", source="OMIM:618951"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -512274,7 +512793,7 @@ xref: DOID:0112115 {source="MONDO:equivalentTo"} xref: MEDGEN:1752252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618952 {source="MONDO:equivalentTo"} xref: UMLS:C5436466 {source="MEDGEN:1752252", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:618952"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112115", source="OMIM:618952"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -512290,7 +512809,7 @@ xref: DOID:0112114 {source="MONDO:equivalentTo"} xref: MEDGEN:1775535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618958 {source="MONDO:equivalentTo"} xref: UMLS:C5436476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1775535"} -is_a: MONDO:0000732 {source="OMIM:618958"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112114", source="OMIM:618958"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -512366,7 +512885,7 @@ xref: MEDGEN:1770258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618972 {source="MONDO:equivalentTo"} xref: UMLS:C5436514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1770258"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0018158 {source="OMIM:618972"} ! mitochondrial DNA depletion syndrome +is_a: MONDO:0018158 {source="DOID:0070450", source="OMIM:618972"} ! mitochondrial DNA depletion syndrome [Term] id: MONDO:0033546 @@ -512411,7 +512930,7 @@ xref: MEDGEN:1764743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618975 {source="MONDO:equivalentTo"} xref: UMLS:C5436530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1764743"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019952 {source="OMIM:618975"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081349", source="OMIM:618975"} ! congenital myopathy relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -512517,7 +513036,7 @@ xref: DOID:0112376 {source="MONDO:equivalentTo"} xref: MEDGEN:1755743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618992 {source="MONDO:equivalentTo"} xref: UMLS:C5436552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1755743"} -is_a: MONDO:0000172 {source="OMIM:618992"} ! muscular dystrophy-dystroglycanopathy, type B +is_a: MONDO:0000172 {source="DOID:0112376", source="OMIM:618992"} ! muscular dystrophy-dystroglycanopathy, type B is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0013049 {source="https://orcid.org/0009-0001-2576-9655"} ! DPM3-congenital disorder of glycosylation relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -512629,7 +513148,7 @@ xref: MEDGEN:1733837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619007 {source="MONDO:equivalentTo"} xref: UMLS:C5436588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1733837"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019200 {source="OMIM:619007"} ! retinitis pigmentosa +is_a: MONDO:0019200 {source="DOID:0112147", source="OMIM:619007"} ! retinitis pigmentosa [Term] id: MONDO:0033564 @@ -512673,7 +513192,7 @@ xref: DOID:0112112 {source="MONDO:equivalentTo"} xref: MEDGEN:1732052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619012 {source="MONDO:equivalentTo"} xref: UMLS:C5436602 {source="MEDGEN:1732052", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:619012"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112112", source="OMIM:619012"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -512774,7 +513293,7 @@ xref: OMIM:619027 {source="MONDO:equivalentTo"} xref: Orphanet:631076 {source="MONDO:equivalentTo"} xref: UMLS:C5436637 {source="MEDGEN:1759445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019064 {source="OMIM:619027"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0112346", source="OMIM:619027"} ! hereditary spastic paraplegia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6356" xsd:anyURI [Term] @@ -512791,7 +513310,7 @@ xref: MEDGEN:1740444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619028 {source="MONDO:equivalentTo"} xref: UMLS:C5436638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1740444"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0018151 {source="OMIM:619028"} ! coenzyme Q10 deficiency +is_a: MONDO:0018151 {source="DOID:0112138", source="OMIM:619028"} ! coenzyme Q10 deficiency intersection_of: MONDO:0018151 ! coenzyme Q10 deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28722 ! COQ5 @@ -512833,7 +513352,7 @@ xref: MEDGEN:1769385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619040 {source="MONDO:equivalentTo"} xref: UMLS:C5436656 {source="MEDGEN:1769385", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0018943 {source="OMIM:619040"} ! myofibrillar myopathy +is_a: MONDO:0018943 {source="DOID:0112108", source="OMIM:619040"} ! myofibrillar myopathy intersection_of: MONDO:0018943 ! myofibrillar myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11480 ! SVIL @@ -512857,7 +513376,7 @@ xref: MEDGEN:1750188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619044 {source="MONDO:equivalentTo"} xref: UMLS:C5436678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1750188"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:619044"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112109", source="OMIM:619044"} ! spermatogenic failure intersection_of: MONDO:0004983 ! spermatogenic failure intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28514 ! CEP112 intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28514 ! CEP112 @@ -512888,7 +513407,7 @@ xref: DOID:0112137 {source="MONDO:equivalentTo"} xref: MEDGEN:1757992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619057 {source="MONDO:equivalentTo"} xref: UMLS:C5436703 {source="MEDGEN:1757992", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:619057"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0112137", source="OMIM:619057"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/24717 ! PTCD3 @@ -513037,7 +513556,7 @@ xref: MEDGEN:1737985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619079 {source="MONDO:equivalentTo"} xref: UMLS:C5436750 {source="MEDGEN:1737985", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0005265 {source="OMIM:619079"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0112154", source="OMIM:619079"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17057 ! CARD8 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -513236,7 +513755,7 @@ xref: MEDGEN:1765130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619071 {source="MONDO:equivalentTo"} xref: UMLS:C5436730 {source="MEDGEN:1765130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019046 {source="OMIM:619071"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0112153", source="OMIM:619071"} ! leukodystrophy [Term] id: MONDO:0033658 @@ -513292,7 +513811,7 @@ xref: MEDGEN:1777362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619081 {source="MONDO:equivalentTo"} xref: UMLS:C5436768 {source="MEDGEN:1777362", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019587 {source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112159", source="OMIM:619081"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -513323,7 +513842,7 @@ xref: MEDGEN:1735338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619086 {source="MONDO:equivalentTo"} xref: UMLS:C5436772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1735338"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019587 {source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss +is_a: MONDO:0019587 {source="DOID:0112160", source="OMIM:619086"} ! autosomal dominant nonsyndromic hearing loss property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -513341,7 +513860,7 @@ xref: NCIT:C177121 {source="MONDO:equivalentTo"} xref: OMIM:619087 {source="MONDO:equivalentTo"} xref: UMLS:C5436773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1761918"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0018997 {source="OMIM:619087"} ! Noonan syndrome +is_a: MONDO:0018997 {source="DOID:0112161", source="OMIM:619087"} ! Noonan syndrome [Term] id: MONDO:0033670 @@ -513357,7 +513876,7 @@ xref: MEDGEN:1726617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619093 {source="MONDO:equivalentTo"} xref: UMLS:C5436789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726617"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0019588 {source="OMIM:619093"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0112162", source="OMIM:619093"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -513371,7 +513890,7 @@ xref: MEDGEN:1776221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619094 {source="MONDO:equivalentTo"} xref: UMLS:C5436791 {source="MEDGEN:1776221", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:619094"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112163", source="OMIM:619094"} ! spermatogenic failure [Term] id: MONDO:0033672 @@ -513404,7 +513923,7 @@ xref: MEDGEN:1726728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619095 {source="MONDO:equivalentTo"} xref: UMLS:C5436799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1726728"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0004983 {source="OMIM:619095"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0112164", source="OMIM:619095"} ! spermatogenic failure [Term] id: MONDO:0033682 @@ -513546,6 +514065,7 @@ xref: NCIT:C128370 {source="MONDO:equivalentTo"} xref: Orphanet:519930 {source="MONDO:equivalentTo"} xref: UMLS:C1262117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:687913"} is_a: MONDO:0000001 {source="Orphanet:519930"} ! disease +is_a: MONDO:0023865 {source="Orphanet:519930"} ! corneal infection intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi intersection_of: disease_has_inflammation_site UBERON:0000964 ! cornea @@ -513563,6 +514083,7 @@ xref: MEDGEN:1809151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:521123 {source="MONDO:equivalentTo"} xref: UMLS:C5681446 {source="MONDO:equivalentTo", source="MEDGEN:1809151", source="MONDO:MEDGEN"} is_a: MONDO:0015923 {source="Orphanet:521123"} ! acquired peripheral neuropathy +is_a: MONDO:0043459 {source="Orphanet:521123"} ! radiation-induced disorder intersection_of: MONDO:0024432 ! nerve plexus disorder intersection_of: realized_in_response_to ECTO:0000002 ! exposure to electromagnetic radiation @@ -513793,7 +514314,7 @@ xref: Orphanet:100051 {source="OMIM:106100"} xref: Orphanet:528623 {source="MONDO:equivalentTo"} xref: Orphanet:91378 {source="OMIM:106100"} xref: UMLS:C4552294 {source="MEDGEN:1812520", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019623 {source="DC-OMIM:106100", source="Orphanet:528623"} ! hereditary angioedema +is_a: MONDO:0019623 {source="DC-OMIM:106100", source="DOID:0080939", source="OMIM:106100", source="Orphanet:528623"} ! hereditary angioedema relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1228 {source="MONDO:mim2gene_medgen"} ! SERPING1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -513955,7 +514476,7 @@ xref: Orphanet:610 {source="OMIM:616471"} xref: UMLS:C4225313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:907426"} is_a: MONDO:0008029 {source="MONDO:Redundant", source="OMIM:616471", source="Orphanet:610/btnt"} ! Bethlem myopathy is_a: MONDO:0019950 {source="Orphanet:536516"} ! congenital muscular dystrophy -is_a: MONDO:0020066 {source="Orphanet:536516"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="OMIM:616471", source="Orphanet:536516"} ! Ehlers-Danlos syndrome intersection_of: MONDO:0008029 ! Bethlem myopathy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 ! COL12A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2188 {source="MONDO:mim2gene_medgen", source="Orphanet:536516"} ! COL12A1 @@ -514032,7 +514553,7 @@ xref: MEDGEN:1799982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618261 {source="Orphanet:538958", source="MONDO:equivalentTo"} xref: Orphanet:538958 {source="MONDO:equivalentTo"} xref: UMLS:C5568559 {source="MONDO:equivalentTo", source="MEDGEN:1799982", source="MONDO:MEDGEN"} -is_a: MONDO:0016537 {source="Orphanet:538958", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome +is_a: MONDO:0016537 {source="OMIM:618261", source="Orphanet:538958", source="https://orcid.org/0000-0001-5208-3432"} ! lymphoproliferative syndrome intersection_of: MONDO:0015974 ! severe combined immunodeficiency intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 ! CD70 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11937 {source="Orphanet:538958"} ! CD70 @@ -514091,7 +514612,7 @@ xref: GARD:22234 {source="MONDO:GARD"} xref: MEDGEN:1826072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:544482 {source="MONDO:equivalentTo"} xref: UMLS:C5680165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1826072"} -is_a: MONDO:0001549 ! hemolytic-uremic syndrome +is_a: MONDO:0001549 {source="Orphanet:544482"} ! hemolytic-uremic syndrome intersection_of: MONDO:0001549 ! hemolytic-uremic syndrome intersection_of: disease_arises_from_feature MONDO:0005550 ! infectious disease @@ -514123,7 +514644,7 @@ xref: Orphanet:544503 {source="MONDO:equivalentTo"} xref: UMLS:C5193065 {source="MEDGEN:1681654", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015159 {source="Orphanet:544503"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015653 {source="Orphanet:544503"} ! monogenic epilepsy -is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0112209", source="OMIM:618379", source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy intersection_of: MONDO:0100062 {source="https://orcid.org/0000-0002-6601-2165"} ! developmental and epileptic encephalopathy intersection_of: RO:0004001 http://identifiers.org/hgnc/10057 {source="https://orcid.org/0000-0002-6601-2165"} ! has material basis in gain of function germline mutation in RNF13 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -514144,7 +514665,8 @@ xref: MEDGEN:1672638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618414 {source="Orphanet:544602", source="MONDO:equivalentTo"} xref: Orphanet:544602 {source="MONDO:equivalentTo"} xref: UMLS:C5193081 {source="MEDGEN:1672638", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:618414", source="Orphanet:544602"} ! congenital myopathy +is_a: MONDO:0006025 {source="DOID:0081346"} ! autosomal recessive disease +is_a: MONDO:0019952 {source="DOID:0081346", source="OMIM:618414", source="Orphanet:544602"} ! congenital myopathy relationship: has_characteristic HP:0000007 {source="Orphanet:544602"} ! Autosomal recessive inheritance relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital relationship: RO:0004001 http://identifiers.org/hgnc/7582 {source="Orphanet:544602"} ! has material basis in gain of function germline mutation in MYL1 @@ -515114,7 +515636,7 @@ xref: MEDGEN:1377153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129785 {source="MONDO:equivalentTo"} xref: Orphanet:585867 {source="MONDO:equivalentTo"} xref: UMLS:C4329268 {source="MONDO:equivalentTo", source="MEDGEN:1377153", source="MONDO:MEDGEN"} -is_a: MONDO:0018874 {source="NCIT:C129785", source="Orphanet:585867"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0080976", source="NCIT:C129785", source="Orphanet:585867"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -515252,7 +515774,7 @@ xref: GARD:22202 {source="MONDO:GARD"} xref: MEDGEN:1808156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:529962 {source="MONDO:equivalentTo"} xref: UMLS:C5680185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808156"} -is_a: MONDO:0016915 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 17 +is_a: MONDO:0016915 {source="Orphanet:529962", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! partial deletion of the long arm of chromosome 17 intersection_of: MONDO:0000761 ! syndrome caused by partial chromosomal deletion intersection_of: disease_arises_from_structure CHR:9606-chr17q24.2 ! 17q24.2 (Human) @@ -515379,7 +515901,7 @@ xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:53 xref: MEDGEN:1814456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:538863 {source="MONDO:equivalentTo"} xref: UMLS:C5680157 {source="MEDGEN:1814456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum +is_a: MONDO:0018824 {source="Orphanet:538863", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum [Term] id: MONDO:0035236 @@ -515394,7 +515916,7 @@ xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:53 xref: MEDGEN:1814476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:538866 {source="MONDO:equivalentTo"} xref: UMLS:C5681317 {source="MEDGEN:1814476", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum +is_a: MONDO:0018824 {source="Orphanet:538866", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum [Term] id: MONDO:0035237 @@ -515410,7 +515932,7 @@ xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:53 xref: MEDGEN:590609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:538869 {source="MONDO:equivalentTo"} xref: UMLS:C0406687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:590609"} -is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum +is_a: MONDO:0018824 {source="Orphanet:538869", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum [Term] id: MONDO:0035238 @@ -515426,7 +515948,7 @@ xref: ICD10CM:L88 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:53 xref: MEDGEN:1842944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:538872 {source="MONDO:equivalentTo"} xref: UMLS:C5680158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842944"} -is_a: MONDO:0018824 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum +is_a: MONDO:0018824 {source="Orphanet:538872", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pyoderma gangrenosum [Term] id: MONDO:0035249 @@ -515530,7 +516052,7 @@ xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:544493 {source="MONDO:equivalentTo"} xref: UMLS:C5680164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842720"} -is_a: MONDO:0034103 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! infection-related hemolytic uremic syndrome +is_a: MONDO:0034103 {source="Orphanet:544493", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! infection-related hemolytic uremic syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -515545,7 +516067,7 @@ xref: ICD10CM:Q62.2 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1843335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:544578 {source="MONDO:equivalentTo"} xref: UMLS:C5681326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843335"} -is_a: MONDO:0018960 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital primary megaureter +is_a: MONDO:0018960 {source="Orphanet:544578", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! congenital primary megaureter [Term] id: MONDO:0035312 @@ -515606,7 +516128,7 @@ xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:556030 {source="MONDO:equivalentTo"} xref: UMLS:C5680171 {source="MEDGEN:1842560", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism +is_a: MONDO:0018541 {source="Orphanet:556030", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2592 ! CYP11B2 [Term] @@ -515624,7 +516146,7 @@ xref: ICD10CM:E27.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1843290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:556037 {source="MONDO:equivalentTo"} xref: UMLS:C5680172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843290"} -is_a: MONDO:0018541 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism +is_a: MONDO:0018541 {source="Orphanet:556037", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! familial hypoaldosteronism [Term] id: MONDO:0035328 @@ -515868,7 +516390,7 @@ xref: ICD10CM:K75.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1804383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563589 {source="MONDO:equivalentTo"} xref: UMLS:C5680121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1804383"} -is_a: MONDO:0016264 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoimmune hepatitis +is_a: MONDO:0016264 {source="Orphanet:563589", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! autoimmune hepatitis [Term] id: MONDO:0035401 @@ -515906,7 +516428,7 @@ xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:56 xref: MEDGEN:1632405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563666 {source="MONDO:equivalentTo"} xref: UMLS:C4708593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1632405"} -is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood +is_a: MONDO:0016092 {source="Orphanet:563666", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood [Term] id: MONDO:0035404 @@ -515921,7 +516443,7 @@ xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:56 xref: MEDGEN:1642057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563671 {source="MONDO:equivalentTo"} xref: UMLS:C4708594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642057"} -is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood +is_a: MONDO:0016092 {source="Orphanet:563671", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood [Term] id: MONDO:0035405 @@ -515936,7 +516458,7 @@ xref: ICD10CM:D27 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:56 xref: MEDGEN:1702847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563676 {source="MONDO:equivalentTo"} xref: UMLS:C5231009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1702847"} -is_a: MONDO:0016092 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood +is_a: MONDO:0016092 {source="Orphanet:563676", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! serous or mucinous cystadenoma of childhood [Term] id: MONDO:0035406 @@ -515952,7 +516474,7 @@ xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:548117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563684 {source="MONDO:equivalentTo"} xref: UMLS:C0277400 {source="MEDGEN:548117", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis +is_a: MONDO:0018941 {source="Orphanet:563684", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis [Term] id: MONDO:0035407 @@ -515968,7 +516490,7 @@ xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1386398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563687 {source="MONDO:equivalentTo"} xref: UMLS:C4511624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1386398"} -is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis +is_a: MONDO:0018941 {source="Orphanet:563687", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis [Term] id: MONDO:0035408 @@ -515984,7 +516506,7 @@ xref: ICD10CM:B87.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1685143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:563690 {source="MONDO:equivalentTo"} xref: UMLS:C5231033 {source="MEDGEN:1685143", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018941 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis +is_a: MONDO:0018941 {source="Orphanet:563690", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! furuncular myiasis [Term] id: MONDO:0035410 @@ -515996,7 +516518,7 @@ subset: rare xref: GARD:22263 {source="MONDO:GARD"} xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563951"} xref: Orphanet:563951 {source="MONDO:equivalentTo"} -is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia +is_a: MONDO:0013003 {source="Orphanet:563951", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia [Term] id: MONDO:0035411 @@ -516007,7 +516529,7 @@ subset: rare xref: GARD:22264 {source="MONDO:GARD"} xref: ICD10CM:Q38.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:563954"} xref: Orphanet:563954 {source="MONDO:equivalentTo"} -is_a: MONDO:0013003 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia +is_a: MONDO:0013003 {source="Orphanet:563954", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! isolated congenital hypoglossia/aglossia [Term] id: MONDO:0035423 @@ -516024,7 +516546,7 @@ xref: ICD10CM:E75.5 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1830096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:565612 {source="MONDO:equivalentTo"} xref: UMLS:C5680124 {source="MEDGEN:1830096", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015611 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neutral lipid storage disease +is_a: MONDO:0015611 {source="Orphanet:565612", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neutral lipid storage disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30802 ! PNPLA2 [Term] @@ -516494,7 +517016,7 @@ xref: GARD:18008 {source="MONDO:GARD"} xref: MEDGEN:1843155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:572354 {source="MONDO:equivalentTo"} xref: UMLS:C5680365 {source="MEDGEN:1843155", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome +is_a: MONDO:0007201 {source="Orphanet:572354", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572354"} ! FOXL2 [Term] @@ -516511,7 +517033,7 @@ xref: GARD:10213 {source="MONDO:GARD"} xref: MEDGEN:1842581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:572361 {source="MONDO:equivalentTo"} xref: UMLS:C5680363 {source="MEDGEN:1842581", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007201 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome +is_a: MONDO:0007201 {source="Orphanet:572361", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1092 {source="Orphanet:572361"} ! FOXL2 [Term] @@ -516816,7 +517338,7 @@ xref: ICD10CM:C92.7 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:589534 {source="MONDO:equivalentTo"} xref: UMLS:C5680315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842390"} -is_a: MONDO:0020743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia +is_a: MONDO:0020743 {source="Orphanet:589534", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia relationship: has_characteristic PATO:0000389 ! acute relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589534"} ! FLT3 @@ -516835,7 +517357,7 @@ xref: MEDGEN:1843062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C82203 {source="MONDO:equivalentTo"} xref: Orphanet:589595 {source="MONDO:equivalentTo"} xref: UMLS:C5680314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843062"} -is_a: MONDO:0020743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia +is_a: MONDO:0020743 {source="NCIT:C82203", source="Orphanet:589595", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! mixed phenotype acute leukemia relationship: has_characteristic PATO:0000389 ! acute relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3765 {source="Orphanet:589595"} ! FLT3 @@ -516866,6 +517388,7 @@ xref: ICD10CM:G71.1 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:589821 {source="MONDO:equivalentTo"} xref: UMLS:C5680305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842512"} +is_a: MONDO:0008056 {source="Orphanet:589821"} ! myotonic dystrophy type 1 is_a: MONDO:0016107 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! myotonic dystrophy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2933 ! DMPK @@ -516998,7 +517521,7 @@ xref: icd11.foundation:73324466 {source="MONDO:equivalentTo", source="Orphanet:5 xref: MEDGEN:1842475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592850 {source="MONDO:equivalentTo"} xref: UMLS:C5680295 {source="MONDO:equivalentTo", source="MEDGEN:1842475", source="MONDO:MEDGEN"} -is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica +is_a: MONDO:0019100 {source="Orphanet:592850", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica [Term] id: MONDO:0035664 @@ -517015,7 +517538,7 @@ xref: icd11.foundation:605048789 {source="MONDO:equivalentTo", source="https://o xref: MEDGEN:1843203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592856 {source="MONDO:equivalentTo"} xref: UMLS:C5680296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843203"} -is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica +is_a: MONDO:0019100 {source="Orphanet:592856", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica [Term] id: MONDO:0035665 @@ -517031,7 +517554,7 @@ xref: ICD10CM:G36.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592869 {source="MONDO:equivalentTo"} xref: UMLS:C5680297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842615"} -is_a: MONDO:0019100 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica +is_a: MONDO:0019100 {source="Orphanet:592869", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! neuromyelitis optica [Term] id: MONDO:0035666 @@ -517046,7 +517569,7 @@ xref: ICD10CM:G37.3 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592873 {source="MONDO:equivalentTo"} xref: UMLS:C5680298 {source="MONDO:equivalentTo", source="MEDGEN:1842662", source="MONDO:MEDGEN"} -is_a: MONDO:0015342 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute transverse myelitis +is_a: MONDO:0015342 {source="Orphanet:592873", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute transverse myelitis relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -517089,7 +517612,7 @@ xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1842363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592894 {source="MONDO:equivalentTo"} xref: UMLS:C5680301 {source="MEDGEN:1842363", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis +is_a: MONDO:0019383 {source="Orphanet:592894", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -517105,7 +517628,7 @@ xref: ICD10CM:G04.0 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1843027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592900 {source="MONDO:equivalentTo"} xref: UMLS:C5680302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843027"} -is_a: MONDO:0019383 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis +is_a: MONDO:0019383 {source="Orphanet:592900", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! acute disseminated encephalomyelitis relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -517238,7 +517761,7 @@ xref: ICD10CM:K74.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet: xref: MEDGEN:1387804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:596941 {source="MONDO:equivalentTo"} xref: UMLS:C0544815 {source="MEDGEN:1387804", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0035357 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! portosinusoidal vascular disease +is_a: MONDO:0035357 {source="Orphanet:596941", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! portosinusoidal vascular disease relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -517768,7 +518291,7 @@ xref: ICD10CM:D47.7 {source="Orphanet:570431"} xref: MEDGEN:1680858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:570431 {source="MONDO:equivalentTo"} xref: UMLS:C5197665 {source="MEDGEN:1680858", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015564 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Castleman disease +is_a: MONDO:0015564 {source="Orphanet:570431", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Castleman disease [Term] id: MONDO:0035862 @@ -517864,7 +518387,7 @@ xref: ICD10CM:E88.8 {source="Orphanet:583612"} xref: MEDGEN:1843313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:583612 {source="MONDO:equivalentTo"} xref: UMLS:C5680338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843313"} -is_a: MONDO:0000179 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Neu-Laxova syndrome +is_a: MONDO:0000179 {source="Orphanet:583612", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! Neu-Laxova syndrome [Term] id: MONDO:0035940 @@ -517884,7 +518407,7 @@ xref: MEDGEN:1842992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C80331 {source="MONDO:equivalentTo"} xref: Orphanet:585909 {source="MONDO:equivalentTo"} xref: UMLS:C5680319 {source="MONDO:equivalentTo", source="MEDGEN:1842992", source="MONDO:MEDGEN"} -is_a: MONDO:0035605 {source="NCIT:C80331"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality +is_a: MONDO:0035605 {source="NCIT:C80331", source="Orphanet:585909"} ! B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality [Term] id: MONDO:0035941 @@ -518080,7 +518603,7 @@ xref: GARD:18036 {source="MONDO:GARD"} xref: MEDGEN:1842868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:615983 {source="MONDO:equivalentTo"} xref: UMLS:C5681819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842868"} -is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +is_a: MONDO:0032931 {source="Orphanet:615983", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [Term] id: MONDO:0036218 @@ -518094,7 +518617,7 @@ xref: GARD:18037 {source="MONDO:GARD"} xref: MEDGEN:1843311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:615986 {source="MONDO:equivalentTo"} xref: UMLS:C5680385 {source="MONDO:equivalentTo", source="MEDGEN:1843311", source="MONDO:MEDGEN"} -is_a: MONDO:0032931 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +is_a: MONDO:0032931 {source="Orphanet:615986", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [Term] id: MONDO:0036482 @@ -518213,6 +518736,7 @@ xref: MEDGEN:1350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000306 {source="MONDO:equivalentTo"} xref: NCIT:C2858 {source="MONDO:equivalentTo"} xref: UMLS:C0001618 {source="MEDGEN:1350", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0021227 {source="NCIT:C2858"} ! adrenal gland neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex @@ -518271,6 +518795,7 @@ synonym: "tumour of spleen" EXACT OMO:0003005 [] xref: MEDGEN:21292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3383 {source="MONDO:equivalentTo"} xref: UMLS:C0037999 {source="MEDGEN:21292", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002332 {source="NCIT:C3383"} ! splenic disorder is_a: MONDO:0002334 {source="MONDO:Redundant", source="NCIT:C3383"} ! hematopoietic and lymphoid system neoplasm intersection_of: MONDO:0005070 ! neoplasm intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -518390,6 +518915,7 @@ xref: ICDO:8011/0 {source="NCIT:C4092"} xref: MEDGEN:90747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4092 {source="MONDO:equivalentTo"} xref: UMLS:C0334232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:90747"} +is_a: MONDO:0005165 {source="NCIT:C4092"} ! benign neoplasm is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C4092"} ! epithelial neoplasm intersection_of: MONDO:0005626 ! epithelial neoplasm intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -518426,6 +518952,7 @@ xref: MEDGEN:87254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4274 {source="MONDO:equivalentTo"} xref: UMLS:C0334501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87254"} is_a: MONDO:0005078 {source="MONDO:Redundant", source="NCIT:C4274"} ! phyllodes tumor +is_a: MONDO:0005165 {source="NCIT:C4274"} ! benign neoplasm intersection_of: MONDO:0005078 ! phyllodes tumor intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant @@ -518479,7 +519006,7 @@ xref: ICD10CM:G25.5 {source="Orphanet:85295"} xref: MEDGEN:1843277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:85295 {source="MONDO:equivalentTo"} xref: UMLS:C5680206 {source="MEDGEN:1843277", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0010327 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! HSD10 mitochondrial disease +is_a: MONDO:0010327 {source="Orphanet:85295", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! HSD10 mitochondrial disease [Term] id: MONDO:0037250 @@ -519133,7 +519660,7 @@ xref: MEDGEN:1628197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617816 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="OMIM:617816"} xref: UMLS:C4540521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1628197"} -is_a: MONDO:0019502 {source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081223", source="OMIM:617816"} ! autosomal recessive non-syndromic intellectual disability relationship: disease_has_basis_in_disruption_of GO:0006506 ! GPI anchor biosynthetic process [Term] @@ -519151,7 +519678,7 @@ xref: GARD:16256 {source="MONDO:GARD"} xref: OMIM:617821 {source="MONDO:equivalentTo"} xref: Orphanet:1899 {source="OMIM:617821"} xref: Orphanet:99876 {source="OMIM:617821"} -is_a: MONDO:0020066 {source="OMIM:617821"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DOID:0080728", source="OMIM:617821"} ! Ehlers-Danlos syndrome [Term] id: MONDO:0040502 @@ -520192,7 +520719,7 @@ xref: MEDGEN:331320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601228 {source="MONDO:equivalentTo"} xref: Orphanet:157794 {source="OMIM:601228"} xref: UMLS:C1832587 {source="MEDGEN:331320", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0011023 ! hereditary mixed polyposis syndrome +is_a: MONDO:0011023 {source="DOID:0111685", source="OMIM:601228"} ! hereditary mixed polyposis syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -520281,6 +520808,7 @@ xref: SCTID:269649008 {source="DOID:8991"} xref: SCTID:92564006 {source="DOID:8991"} xref: UMLS:C0851140 {source="MEDGEN:163094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0004647 {source="DOID:8991", source="MESH:D018290", source="NCIT:C4000"} ! in situ carcinoma +is_a: MONDO:0004710 {source="DOID:8991"} ! uterus carcinoma in situ intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -520541,7 +521069,7 @@ xref: MEDGEN:1638448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601764 {source="MONDO:equivalentTo", source="GARD:0000856"} xref: Orphanet:306 {source="OMIM:601764", source="GARD:0000856"} xref: UMLS:C4551769 {source="MEDGEN:1638448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017615 {source="OMIM:601764"} ! benign familial infantile epilepsy +is_a: MONDO:0017615 {source="DOID:0081114", source="OMIM:601764"} ! benign familial infantile epilepsy relationship: excluded_subClassOf MONDO:0011140 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete benign familial neonatal-infantile seizures [Term] @@ -522664,7 +523192,7 @@ xref: Orphanet:221 {source="GARD:0009907"} xref: Orphanet:645617 {source="MONDO:equivalentTo"} xref: SCTID:238935002 {source="MONDO:equivalentTo"} xref: UMLS:C0406645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:96065"} -is_a: MONDO:0016367 {source="MESH:C538250"} ! dermatomyositis +is_a: MONDO:0016367 {source="MESH:C538250", source="Orphanet:645617"} ! dermatomyositis [Term] id: MONDO:0043320 @@ -524916,7 +525444,7 @@ xref: MEDGEN:358268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:128200 {source="MONDO:equivalentTo"} xref: Orphanet:98809 {source="DOID:0090053", source="OMIM:128200", source="MONDO:equivalentTo"} xref: UMLS:C1868682 {source="MEDGEN:358268", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015427 {source="https://orcid.org/0000-0002-6601-2165"} ! paroxysmal dyskinesia +is_a: MONDO:0015427 {source="Orphanet:98809", source="https://orcid.org/0000-0002-6601-2165"} ! paroxysmal dyskinesia relationship: has_characteristic MONDO:0021152 {source="OMIMPS:128200"} ! inherited [Term] @@ -525874,7 +526402,7 @@ xref: MEDGEN:1393545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616224 {source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616224"} xref: UMLS:C4479088 {source="MEDGEN:1393545", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018940 {source="OMIM:616224"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0080587", source="OMIM:616224"} ! congenital myasthenic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -525899,7 +526427,7 @@ xref: OMIM:617100 {source="MONDO:equivalentTo"} xref: Orphanet:480536 {source="MONDO:equivalentTo", source="OMIM:617100"} xref: UMLS:C4310719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934686"} is_a: MONDO:0016362 {source="Orphanet:480536", source="https://orcid.org/0000-0002-6601-2165"} ! attenuated familial adenomatous polyposis -is_a: MONDO:0021055 {source="OMIM:617100"} ! classic familial adenomatous polyposis +is_a: MONDO:0021055 {source="DOID:0080412", source="OMIM:617100"} ! classic familial adenomatous polyposis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6909" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7924" xsd:anyURI @@ -525986,7 +526514,7 @@ xref: DOID:0111650 {source="MONDO:equivalentTo"} xref: MEDGEN:1387448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617392 {source="MONDO:equivalentTo"} xref: UMLS:C4479322 {source="MEDGEN:1387448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019287 {source="OMIM:617392"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="DOID:0111650", source="OMIM:617392"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0044306 @@ -526030,7 +526558,7 @@ xref: MEDGEN:1374358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617406 {source="MONDO:equivalentTo"} xref: Orphanet:110 {source="OMIM:617406"} xref: UMLS:C4319932 {source="MEDGEN:1374358", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015229 {source="OMIM:617406"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DOID:0081010", source="OMIM:617406"} ! Bardet-Biedl syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:617406"} ! Autosomal recessive inheritance [Term] @@ -526047,7 +526575,7 @@ xref: MEDGEN:1385861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617408 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617408"} xref: UMLS:C4479424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385861"} -is_a: MONDO:0015253 {source="OMIM:617408"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111893", source="OMIM:617408"} ! Diamond-Blackfan anemia [Term] id: MONDO:0044310 @@ -526063,7 +526591,7 @@ xref: MEDGEN:1373199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617409 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="OMIM:617409"} xref: UMLS:C4479428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373199"} -is_a: MONDO:0015253 {source="OMIM:617409"} ! Diamond-Blackfan anemia +is_a: MONDO:0015253 {source="DOID:0111880", source="OMIM:617409"} ! Diamond-Blackfan anemia [Term] id: MONDO:0044311 @@ -526107,7 +526635,7 @@ xref: DOID:0081222 {source="MONDO:equivalentTo"} xref: MEDGEN:1373351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617432 {source="MONDO:equivalentTo"} xref: UMLS:C4479476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373351"} -is_a: MONDO:0019502 {source="OMIM:617432"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081222", source="OMIM:617432"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0044314 @@ -526400,7 +526928,7 @@ xref: GARD:16284 {source="MONDO:GARD"} xref: MEDGEN:1642659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618011 {source="MONDO:equivalentTo"} xref: UMLS:C4693933 {source="MEDGEN:1642659", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0021022 {source="OMIM:618011"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0080581", source="OMIM:618011"} ! hereditary hyperekplexia [Term] id: MONDO:0044331 @@ -527084,7 +527612,7 @@ xref: MEDGEN:1615526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617763 {source="MONDO:equivalentTo", source="Orphanet:494439"} xref: Orphanet:494439 {source="MONDO:equivalentTo"} xref: UMLS:C4540367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615526"} -is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0081175", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0015160 {source="Orphanet:494439"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -527169,6 +527697,8 @@ xref: NCIT:C4043 {source="MONDO:equivalentTo"} xref: ONCOTREE:HPHSC {source="MONDO:equivalentTo"} xref: Orphanet:494547 {source="MONDO:equivalentTo"} xref: UMLS:C0280321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:79102"} +is_a: MONDO:0000536 {source="NCIT:C4043"} ! pharyngeal squamous cell carcinoma +is_a: MONDO:0005216 {source="NCIT:C4043"} ! hypopharyngeal carcinoma is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease intersection_of: MONDO:0005096 ! squamous cell carcinoma @@ -527232,7 +527762,7 @@ xref: GARD:17910 {source="MONDO:GARD"} xref: MEDGEN:1798879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:495844 {source="MONDO:equivalentTo"} xref: UMLS:C5567456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1798879"} -is_a: MONDO:0019046 {source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy +is_a: MONDO:0019046 {source="Orphanet:495844", source="https://orcid.org/0000-0001-5208-3432"} ! leukodystrophy [Term] id: MONDO:0044643 @@ -527758,7 +528288,7 @@ xref: OMIM:301018 {source="MONDO:equivalentTo"} xref: Orphanet:500188 {source="MONDO:equivalentTo", source="OMIM:301018"} xref: UMLS:C4746975 {source="MEDGEN:1648389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019755 {source="MONDO:0019936-obsoleted"} ! developmental defect during embryogenesis -is_a: MONDO:0020768 {source="MONDO:301018"} ! X-linked deafness +is_a: MONDO:0020768 {source="MONDO:301018", source="OMIM:301018"} ! X-linked deafness is_a: MONDO:0024623 {source="MONDO:0019936-obsoleted"} ! otorhinolaryngologic disease relationship: has_characteristic HP:0001417 ! X-linked inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -527787,8 +528317,10 @@ xref: NCIT:C8181 {source="MONDO:equivalentTo"} xref: ONCOTREE:OPHSC {source="MONDO:equivalentTo"} xref: Orphanet:500478 {source="MONDO:equivalentTo"} xref: UMLS:C0280313 {source="MEDGEN:76094", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000536 {source="NCIT:C8181"} ! pharyngeal squamous cell carcinoma is_a: MONDO:0005586 {source="MONDO:0020035-obsoleted"} ! head and neck neoplasm is_a: MONDO:0024623 {source="MONDO:0020035-obsoleted"} ! otorhinolaryngologic disease +is_a: MONDO:0044926 {source="NCIT:C8181"} ! oropharyngeal carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001729 ! oropharynx @@ -528030,7 +528562,7 @@ xref: MEDGEN:934617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617248 {source="MONDO:equivalentTo"} xref: Orphanet:505208 {source="MONDO:equivalentTo"} xref: UMLS:C4310650 {source="MEDGEN:934617", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017359 {source="DC-OMIM:617248", source="OMIM:617248", source="Orphanet:505208"} ! 3-methylglutaconic aciduria +is_a: MONDO:0017359 {source="DC-OMIM:617248", source="DOID:0070000", source="OMIM:617248", source="Orphanet:505208"} ! 3-methylglutaconic aciduria relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14348 {source="MONDO:mim2gene_medgen"} ! HTRA2 [Term] @@ -528056,7 +528588,7 @@ xref: MEDGEN:1622927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617698 {source="MONDO:equivalentTo", source="Orphanet:505216"} xref: Orphanet:505216 {source="OMIM:617698", source="MONDO:equivalentTo"} xref: UMLS:C4540171 {source="MEDGEN:1622927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017359 {source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria +is_a: MONDO:0017359 {source="DOID:0070002", source="OMIM:617698", source="Orphanet:505216"} ! 3-methylglutaconic aciduria relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:505216", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: has_characteristic MONDO:0021136 {source="MONDO:0015162", source="MONDO:0015983"} ! rare @@ -528080,7 +528612,7 @@ xref: MEDGEN:1799555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617827 {source="MONDO:equivalentTo", source="Orphanet:505227"} xref: Orphanet:505227 {source="MONDO:equivalentTo", source="OMIM:617827"} xref: UMLS:C5568132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799555"} -is_a: MONDO:0015131 {source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency +is_a: MONDO:0015131 {source="DOID:0111993", source="https://orcid.org/0000-0002-4142-7153"} ! combined immunodeficiency is_a: MONDO:0021094 {source="OMIM:617827"} ! immunodeficiency disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3191" xsd:anyURI @@ -528533,6 +529065,7 @@ xref: GARD:8620 {source="MONDO:GARD"} xref: NCIT:C8427 {source="MONDO:equivalentTo"} xref: SCTID:253030004 {source="MONDO:equivalentTo"} is_a: MONDO:0001608 {source="MONDO:Redundant", source="NCIT:C8427"} ! vagus nerve neoplasm +is_a: MONDO:0006239 {source="NCIT:C8427"} ! head and neck paraganglioma is_a: MONDO:0021052 {source="NCIT:C8427"} ! parasympathetic paraganglioma intersection_of: MONDO:0000448 ! paraganglioma intersection_of: disease_has_location UBERON:0001759 ! vagus nerve @@ -528737,6 +529270,7 @@ xref: ONCOTREE:ADPA {source="MONDO:equivalentTo"} xref: UMLS:C1367789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:277955"} is_a: MONDO:0002531 {source="ONCOTREE:ADPA"} ! skin neoplasm is_a: MONDO:0002656 {source="DOID:5590", source="MONDO:indirect"} ! skin carcinoma +is_a: MONDO:0003531 {source="NCIT:C27534"} ! papillary eccrine carcinoma intersection_of: MONDO:0003531 ! papillary eccrine carcinoma intersection_of: disease_has_location UBERON:0002544 ! digit property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7185" xsd:anyURI @@ -529152,7 +529686,7 @@ xref: MESH:D020362 {source="https://orcid.org/0000-0003-1967-3726", source="MOND xref: NCIT:C4685 {source="MONDO:equivalentTo"} xref: Orphanet:623626 {source="MONDO:equivalentTo"} xref: UMLS:C0393534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:98273"} -is_a: MONDO:0018215 {source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome +is_a: MONDO:0018215 {source="Orphanet:623626", source="https://orcid.org/0009-0001-6494-4831"} ! paraneoplastic neurologic syndrome is_a: MONDO:0021073 {source="NCIT:C4685"} ! paraneoplastic syndrome is_a: MONDO:0022687 {source="MONDO:Redundant", source="NCIT:C4685"} ! cerebellar degeneration intersection_of: MONDO:0021073 ! paraneoplastic syndrome @@ -529539,7 +530073,7 @@ xref: NCIT:C82429 {source="MONDO:otherHierarchy"} xref: NCIT:C82431 {source="MONDO:equivalentTo"} xref: ONCOTREE:AMLNPM1 {source="MONDO:equivalentTo"} xref: UMLS:C2826177 {source="MEDGEN:414842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82431/inferred", source="ONCOTREE:AMLNPM1/inferred"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081089", source="NCIT:C82430", source="NCIT:C82431/inferred", source="ONCOTREE:AMLNPM1/inferred"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3583" xsd:anyURI @@ -530925,7 +531459,7 @@ xref: MEDGEN:1639885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301013 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="OMIM:301013"} xref: UMLS:C4692652 {source="MEDGEN:1639885", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019181 {source="OMIM:301013"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DOID:0112054", source="OMIM:301013"} ! non-syndromic X-linked intellectual disability property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -531025,7 +531559,7 @@ xref: MEDGEN:1390458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617395 {source="MONDO:equivalentTo", source="Orphanet:435934"} xref: Orphanet:435934 {source="MONDO:equivalentTo", source="OMIM:617395"} xref: UMLS:C4479353 {source="MEDGEN:1390458", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0005501 {source="OMIM:617395"} ! congenital disorder of glycosylation type II +is_a: MONDO:0005501 {source="DOID:0070269", source="OMIM:617395"} ! congenital disorder of glycosylation type II is_a: MONDO:0015286 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital disorder of glycosylation is_a: MONDO:0017750 {source="Orphanet:435934"} ! defect in conserved oligomeric Golgi complex relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -531048,7 +531582,7 @@ xref: MEDGEN:1638106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607095 {source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="OMIM:607095"} xref: UMLS:C4551965 {source="MONDO:equivalentTo", source="MEDGEN:1638106", source="MONDO:MEDGEN"} -is_a: MONDO:0011773 {source="OMIM:607095"} ! anauxetic dysplasia +is_a: MONDO:0011773 {source="DOID:0050640", source="OMIM:607095"} ! anauxetic dysplasia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10031 {source="MONDO:mim2gene_medgen"} ! RMRP [Term] @@ -531064,7 +531598,7 @@ xref: MEDGEN:1384439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617396 {source="MONDO:equivalentTo"} xref: Orphanet:93347 {source="OMIM:617396"} xref: UMLS:C4479357 {source="MEDGEN:1384439", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0011773 {source="OMIM:617396"} ! anauxetic dysplasia +is_a: MONDO:0011773 {source="DOID:0080962", source="OMIM:617396"} ! anauxetic dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -531163,7 +531697,7 @@ xref: NCIT:C176940 {source="MONDO:equivalentTo"} xref: OMIM:617506 {source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:617506"} xref: UMLS:C4479577 {source="MEDGEN:1376945", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0011899 {source="OMIM:617506"} ! Noonan syndrome-like disorder with loose anagen hair +is_a: MONDO:0011899 {source="DOID:0080693", source="OMIM:617506"} ! Noonan syndrome-like disorder with loose anagen hair [Term] id: MONDO:0054591 @@ -531241,7 +531775,7 @@ xref: MEDGEN:1617309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617576 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617576"} xref: UMLS:C4539783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617309"} -is_a: MONDO:0004983 {source="OMIM:617576"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0070165", source="OMIM:617576"} ! spermatogenic failure [Term] id: MONDO:0054636 @@ -531283,7 +531817,7 @@ xref: OMIM:607721 {source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:607721"} xref: UMLS:C4478716 {source="MEDGEN:1379805", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0010908 {source="OMIM:607721"} ! loose anagen syndrome -is_a: MONDO:0011899 {source="OMIM:607721"} ! Noonan syndrome-like disorder with loose anagen hair +is_a: MONDO:0011899 {source="DOID:0080692", source="OMIM:607721"} ! Noonan syndrome-like disorder with loose anagen hair relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15454 {source="MONDO:mim2gene_medgen"} ! SHOC2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -531298,7 +531832,7 @@ xref: DOID:0111492 {source="MONDO:equivalentTo"} xref: MEDGEN:1617600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617664 {source="MONDO:equivalentTo"} xref: UMLS:C4540029 {source="MEDGEN:1617600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:617664"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111492", source="OMIM:617664"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0054665 @@ -531328,7 +531862,7 @@ xref: DOID:0080497 {source="MONDO:equivalentTo"} xref: MEDGEN:1627972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617690 {source="MONDO:equivalentTo"} xref: UMLS:C4540141 {source="MEDGEN:1627972", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009299 {source="OMIM:617690"} ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080497", source="OMIM:617690"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0054669 @@ -531347,7 +531881,7 @@ xref: MEDGEN:1627627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617695 {source="MONDO:equivalentTo"} xref: Orphanet:611247 {source="MONDO:equivalentTo"} xref: UMLS:C4540164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1627627"} -is_a: MONDO:0020135 {source="OMIM:617695"} ! pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0112324", source="OMIM:617695", source="Orphanet:611247"} ! pontocerebellar hypoplasia [Term] id: MONDO:0054677 @@ -531361,7 +531895,7 @@ xref: MEDGEN:1623699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C174440 {source="MONDO:equivalentTo"} xref: OMIM:617713 {source="MONDO:equivalentTo"} xref: UMLS:C4540209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623699"} -is_a: MONDO:0000732 {source="OMIM:617713"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111495", source="OMIM:617713"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0054680 @@ -531380,7 +531914,7 @@ xref: MEDGEN:1620874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617719 {source="MONDO:equivalentTo"} xref: Orphanet:647676 {source="MONDO:equivalentTo"} xref: UMLS:C4540251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1620874"} -is_a: MONDO:0016648 {source="OMIM:617719"} ! multiple epiphyseal dysplasia +is_a: MONDO:0016648 {source="DOID:0070302", source="OMIM:617719", source="Orphanet:647676"} ! multiple epiphyseal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -531398,7 +531932,7 @@ xref: DOID:0081156 {source="MONDO:equivalentTo"} xref: MEDGEN:1614928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617765 {source="MONDO:equivalentTo"} xref: UMLS:C4540380 {source="MEDGEN:1614928", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015517 {source="OMIM:617765"} ! common variable immunodeficiency +is_a: MONDO:0015517 {source="DOID:0081156", source="OMIM:617765"} ! common variable immunodeficiency [Term] id: MONDO:0054695 @@ -531490,7 +532024,7 @@ xref: GARD:18446 {source="MONDO:GARD"} xref: MEDGEN:1648456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617591 {source="MONDO:equivalentTo"} xref: UMLS:C4747850 {source="MEDGEN:1648456", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009726 {source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome +is_a: MONDO:0009726 {source="DOID:0060916", source="OMIM:617591"} ! proteosome-associated autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -531507,7 +532041,7 @@ xref: GARD:18447 {source="MONDO:GARD"} xref: MEDGEN:1648482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618048 {source="MONDO:equivalentTo"} xref: UMLS:C4747989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648482"} -is_a: MONDO:0009726 {source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome +is_a: MONDO:0009726 {source="DOID:0060914", source="OMIM:618048"} ! proteosome-associated autoinflammatory syndrome [Term] id: MONDO:0054701 @@ -531524,7 +532058,7 @@ xref: MEDGEN:1623903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617768 {source="MONDO:equivalentTo"} xref: Orphanet:261652 {source="OMIM:617768"} xref: UMLS:C4540395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1623903"} -is_a: MONDO:0012455 {source="OMIM:617768"} ! Kleefstra syndrome +is_a: MONDO:0012455 {source="DOID:0080598", source="OMIM:617768"} ! Kleefstra syndrome [Term] id: MONDO:0054708 @@ -531556,7 +532090,7 @@ xref: GARD:16253 {source="MONDO:GARD"} xref: MEDGEN:1616860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617800 {source="MONDO:equivalentTo"} xref: UMLS:C4540488 {source="MEDGEN:1616860", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016660 {source="OMIM:617800"} ! autosomal recessive primary microcephaly +is_a: MONDO:0016660 {source="DOID:0070281", source="OMIM:617800"} ! autosomal recessive primary microcephaly [Term] id: MONDO:0054722 @@ -531572,7 +532106,7 @@ xref: MEDGEN:1615724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617809 {source="MONDO:equivalentTo"} xref: Orphanet:2623 {source="OMIM:617809"} xref: UMLS:C4540511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1615724"} -is_a: MONDO:0000127 {source="OMIM:617809"} ! geleophysic dysplasia +is_a: MONDO:0000127 {source="DOID:0111727", source="OMIM:617809"} ! geleophysic dysplasia is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -531590,7 +532124,7 @@ xref: MEDGEN:1614356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617592 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617592"} xref: UMLS:C4539818 {source="MEDGEN:1614356", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:617592"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0070170", source="OMIM:617592"} ! spermatogenic failure [Term] id: MONDO:0054724 @@ -531605,7 +532139,7 @@ xref: MEDGEN:1621256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617593 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617593"} xref: UMLS:C4539824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621256"} -is_a: MONDO:0004983 {source="OMIM:617593"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0070166", source="OMIM:617593"} ! spermatogenic failure [Term] id: MONDO:0054725 @@ -531632,7 +532166,7 @@ xref: MEDGEN:1618089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617706 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:617706"} xref: UMLS:C4540179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618089"} -is_a: MONDO:0004983 {source="OMIM:617706"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0070177", source="OMIM:617706"} ! spermatogenic failure [Term] id: MONDO:0054727 @@ -531647,7 +532181,7 @@ xref: GARD:16246 {source="MONDO:GARD"} xref: MEDGEN:1626589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617707 {source="MONDO:equivalentTo"} xref: UMLS:C4540185 {source="MONDO:equivalentTo", source="MEDGEN:1626589", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:617707"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0070181", source="OMIM:617707"} ! spermatogenic failure [Term] id: MONDO:0054728 @@ -531659,7 +532193,7 @@ xref: DOID:0111929 {source="MONDO:equivalentTo"} xref: MEDGEN:1646063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617959 {source="MONDO:equivalentTo"} xref: UMLS:C4693751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646063"} -is_a: MONDO:0004983 {source="OMIM:617959"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111929", source="OMIM:617959"} ! spermatogenic failure [Term] id: MONDO:0054729 @@ -531675,7 +532209,7 @@ xref: MEDGEN:1646677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617960 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:617960"} xref: UMLS:C4693765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646677"} -is_a: MONDO:0004983 {source="OMIM:617960"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111920", source="OMIM:617960"} ! spermatogenic failure [Term] id: MONDO:0054730 @@ -531703,7 +532237,7 @@ xref: MEDGEN:1634748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617965 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:617965"} xref: UMLS:C4693784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634748"} -is_a: MONDO:0004983 {source="OMIM:617965"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111928", source="OMIM:617965"} ! spermatogenic failure [Term] id: MONDO:0054732 @@ -531718,7 +532252,7 @@ xref: GARD:16290 {source="MONDO:GARD"} xref: MEDGEN:1648494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618086 {source="MONDO:equivalentTo"} xref: UMLS:C4748117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648494"} -is_a: MONDO:0004983 {source="OMIM:618086"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111916", source="OMIM:618086"} ! spermatogenic failure [Term] id: MONDO:0054733 @@ -531730,7 +532264,7 @@ xref: DOID:0111930 {source="MONDO:equivalentTo"} xref: MEDGEN:1648499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618091 {source="MONDO:equivalentTo"} xref: UMLS:C4748142 {source="MEDGEN:1648499", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004983 {source="OMIM:618091"} ! spermatogenic failure +is_a: MONDO:0004983 {source="DOID:0111930", source="OMIM:618091"} ! spermatogenic failure [Term] id: MONDO:0054736 @@ -531746,7 +532280,7 @@ xref: MEDGEN:1616382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617598 {source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="OMIM:617598"} xref: UMLS:C4539839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1616382"} -is_a: MONDO:0000141 {source="OMIM:617598"} ! mosaic variegated aneuploidy syndrome +is_a: MONDO:0000141 {source="DOID:0080689", source="OMIM:617598"} ! mosaic variegated aneuploidy syndrome relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0002-4142-7153"} ! mosaic [Term] @@ -531765,7 +532299,7 @@ xref: MEDGEN:1639061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219000 {source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="OMIM:219000"} xref: UMLS:C4551480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639061"} -is_a: MONDO:0009046 {source="OMIM:219000"} ! Fraser syndrome +is_a: MONDO:0009046 {source="DOID:0111405", source="OMIM:219000"} ! Fraser syndrome [Term] id: MONDO:0054738 @@ -531780,7 +532314,7 @@ xref: MEDGEN:1624349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617666 {source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="OMIM:617666"} xref: UMLS:C4540036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1624349"} -is_a: MONDO:0009046 {source="OMIM:617666"} ! Fraser syndrome +is_a: MONDO:0009046 {source="DOID:0111407", source="OMIM:617666"} ! Fraser syndrome [Term] id: MONDO:0054739 @@ -531796,7 +532330,7 @@ xref: MEDGEN:1621907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617667 {source="MONDO:equivalentTo"} xref: Orphanet:2052 {source="OMIM:617667"} xref: UMLS:C4540040 {source="MEDGEN:1621907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0009046 {source="OMIM:617667"} ! Fraser syndrome +is_a: MONDO:0009046 {source="DOID:0111406", source="OMIM:617667"} ! Fraser syndrome [Term] id: MONDO:0054740 @@ -531845,7 +532379,7 @@ xref: MEDGEN:1631307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617872 {source="MONDO:equivalentTo"} xref: Orphanet:457223 {source="MONDO:equivalentTo", source="OMIM:617872"} xref: UMLS:C4693450 {source="MEDGEN:1631307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:617872"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111497", source="OMIM:617872"} ! combined oxidative phosphorylation deficiency property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6910" xsd:anyURI [Term] @@ -531860,7 +532394,7 @@ xref: DOID:0111464 {source="MONDO:equivalentTo"} xref: MEDGEN:1639653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617873 {source="MONDO:equivalentTo"} xref: UMLS:C4693466 {source="MEDGEN:1639653", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:617873"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111464", source="OMIM:617873"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0054743 @@ -531935,7 +532469,7 @@ xref: DOID:0081320 {source="MONDO:equivalentTo"} xref: MEDGEN:1638842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617898 {source="MONDO:equivalentTo"} xref: UMLS:C4693531 {source="MEDGEN:1638842", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0017923 {source="OMIM:617898"} ! multiple synostoses syndrome +is_a: MONDO:0017923 {source="DOID:0081320", source="OMIM:617898"} ! multiple synostoses syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI [Term] @@ -532023,7 +532557,7 @@ xref: DOID:0060961 {source="MONDO:equivalentTo"} xref: MEDGEN:1799326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617927 {source="MONDO:equivalentTo"} xref: UMLS:C5567903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799326"} -is_a: MONDO:0015375 {source="https://orcid.org/0000-0001-5208-3432"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0060961", source="OMIM:617927", source="https://orcid.org/0000-0001-5208-3432"} ! orofaciodigital syndrome [Term] id: MONDO:0054771 @@ -532050,7 +532584,7 @@ xref: DOID:0081424 {source="MONDO:equivalentTo"} xref: MEDGEN:1644614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617935 {source="MONDO:equivalentTo"} xref: UMLS:C4693694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644614"} -is_a: MONDO:0020310 {source="OMIM:617935"} ! familial focal epilepsy with variable foci +is_a: MONDO:0020310 {source="DOID:0081424", source="OMIM:617935"} ! familial focal epilepsy with variable foci [Term] id: MONDO:0054780 @@ -532084,7 +532618,7 @@ xref: DOID:0111482 {source="MONDO:equivalentTo"} xref: MEDGEN:1644927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617950 {source="MONDO:equivalentTo"} xref: UMLS:C4693722 {source="MEDGEN:1644927", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:617950"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0111482", source="OMIM:617950"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0054782 @@ -532099,7 +532633,7 @@ xref: DOID:0070398 {source="MONDO:equivalentTo"} xref: MEDGEN:1633653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617951 {source="MONDO:equivalentTo"} xref: UMLS:C4693733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1633653"} -is_a: MONDO:0019046 {source="OMIM:617951"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070398", source="OMIM:617951"} ! leukodystrophy [Term] id: MONDO:0054785 @@ -532121,7 +532655,7 @@ xref: MEDGEN:1643082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617954 {source="Orphanet:569290", source="MONDO:equivalentTo"} xref: Orphanet:569290 {source="MONDO:equivalentTo"} xref: UMLS:C4693741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643082"} -is_a: MONDO:0017338 {source="OMIM:617954"} ! fatal multiple mitochondrial dysfunctions syndrome +is_a: MONDO:0017338 {source="DOID:0070332", source="OMIM:617954", source="Orphanet:569290"} ! fatal multiple mitochondrial dysfunctions syndrome [Term] id: MONDO:0054791 @@ -532135,7 +532669,7 @@ xref: DOID:0070405 {source="MONDO:equivalentTo"} xref: MEDGEN:1631337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617964 {source="MONDO:equivalentTo"} xref: UMLS:C4693779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1631337"} -is_a: MONDO:0019046 {source="OMIM:617964"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070405", source="OMIM:617964"} ! leukodystrophy [Term] id: MONDO:0054794 @@ -532151,7 +532685,7 @@ synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED xref: MEDGEN:1648319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617967 {source="MONDO:equivalentTo"} xref: UMLS:C4747885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648319"} -is_a: MONDO:0016349 ! congenital hydrocephalus +is_a: MONDO:0016349 {source="OMIM:617967"} ! congenital hydrocephalus relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -532171,7 +532705,7 @@ xref: DOID:0111632 {source="MONDO:equivalentTo"} xref: MEDGEN:1634191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617980 {source="MONDO:equivalentTo"} xref: UMLS:C4693822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634191"} -is_a: MONDO:0001115 ! familial polycythemia +is_a: MONDO:0001115 {source="DOID:0111632", source="OMIM:617980"} ! familial polycythemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -532189,7 +532723,7 @@ xref: DOID:0111631 {source="MONDO:equivalentTo"} xref: MEDGEN:1642594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617981 {source="MONDO:equivalentTo"} xref: UMLS:C4693823 {source="MONDO:equivalentTo", source="MEDGEN:1642594", source="MONDO:MEDGEN"} -is_a: MONDO:0001115 ! familial polycythemia +is_a: MONDO:0001115 {source="DOID:0111631", source="OMIM:617981"} ! familial polycythemia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -532252,7 +532786,8 @@ xref: MEDGEN:1632001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618000 {source="MONDO:equivalentTo", source="Orphanet:536532"} xref: Orphanet:536532 {source="MONDO:equivalentTo"} xref: UMLS:C4693870 {source="MONDO:equivalentTo", source="MEDGEN:1632001", source="MONDO:MEDGEN"} -is_a: MONDO:0020066 {source="OMIM:618000", source="Orphanet:536532"} ! Ehlers-Danlos syndrome +is_a: MONDO:0006025 {source="DOID:0080732"} ! autosomal recessive disease +is_a: MONDO:0020066 {source="DOID:0080732", source="OMIM:618000", source="Orphanet:536532"} ! Ehlers-Danlos syndrome relationship: disease_has_feature HP:0004349 {source="Orphanet:536532"} ! Reduced bone mineral density relationship: excluded_subClassOf MONDO:0019704 {source="Orphanet:536532", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with decreased bone density relationship: has_characteristic HP:0000007 {source="Orphanet:536532"} ! Autosomal recessive inheritance @@ -532271,7 +532806,7 @@ xref: DOID:0070404 {source="MONDO:equivalentTo"} xref: MEDGEN:1644557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618006 {source="MONDO:equivalentTo"} xref: UMLS:C4693912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1644557"} -is_a: MONDO:0019046 {source="OMIM:618006"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070404", source="OMIM:618006"} ! leukodystrophy [Term] id: MONDO:0054831 @@ -532287,7 +532822,7 @@ xref: GARD:16287 {source="MONDO:GARD"} xref: MEDGEN:1648281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618027 {source="MONDO:equivalentTo"} xref: UMLS:C4747954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648281"} -is_a: MONDO:0015452 {source="OMIM:618027"} ! Coffin-Siris syndrome +is_a: MONDO:0015452 {source="DOID:0112369", source="OMIM:618027"} ! Coffin-Siris syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9964 {source="OMIM:618027", source="PMID:30580808", source="https://orcid.org/0000-0001-7451-4467"} ! DPF2 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3939" xsd:anyURI @@ -532304,7 +532839,7 @@ xref: GARD:18215 {source="MONDO:GARD"} xref: MEDGEN:1648359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618031 {source="MONDO:equivalentTo"} xref: UMLS:C4747961 {source="MEDGEN:1648359", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020364 {source="OMIM:618031"} ! posterior polymorphous corneal dystrophy +is_a: MONDO:0020364 {source="DOID:0080669", source="OMIM:618031"} ! posterior polymorphous corneal dystrophy [Term] id: MONDO:0054833 @@ -532325,8 +532860,9 @@ xref: MEDGEN:1648475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618036 {source="Orphanet:521414", source="MONDO:equivalentTo"} xref: Orphanet:521414 {source="MONDO:equivalentTo"} xref: UMLS:C4747974 {source="MEDGEN:1648475", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0000426 {source="DOID:0111558"} ! autosomal dominant disease is_a: MONDO:0015626 {source="OMIM:618036"} ! Charcot-Marie-Tooth disease -is_a: MONDO:0018993 {source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2 +is_a: MONDO:0018993 {source="DOID:0111558", source="Orphanet:521414"} ! Charcot-Marie-Tooth disease type 2 relationship: has_characteristic HP:0000006 {source="Orphanet:521414"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/799 {source="Orphanet:521414"} ! ATP1A1 @@ -532351,7 +532887,7 @@ xref: Orphanet:238455 {source="OMIM:613135"} xref: SCTID:722763000 {source="MONDO:equivalentTo"} xref: UMLS:C5700336 {source="MEDGEN:1814585", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0013150 {source="OMIM:613135"} ! parkinsonism-dystonia, infantile -is_a: MONDO:0700117 {source="PMID:28749637"} ! SLC6A3-related dopamine transporter deficiency syndrome +is_a: MONDO:0700117 {source="DOID:0070489", source="PMID:28749637"} ! SLC6A3-related dopamine transporter deficiency syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="MONDO:mim2gene_medgen"} ! SLC6A3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI @@ -532413,7 +532949,7 @@ xref: DOID:0060951 {source="MONDO:equivalentTo"} xref: MEDGEN:1648469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618061 {source="MONDO:equivalentTo"} xref: UMLS:C4748044 {source="MEDGEN:1648469", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0004691 {source="OMIM:618061"} ! autosomal dominant polycystic kidney disease +is_a: MONDO:0004691 {source="DOID:0060951", source="OMIM:618061"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0020642 ! polycystic kidney disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/14889 ! DNAJB11 @@ -532433,7 +532969,7 @@ xref: GARD:16288 {source="MONDO:GARD"} xref: MEDGEN:1648465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618063 {source="MONDO:equivalentTo"} xref: UMLS:C4748052 {source="MEDGEN:1648465", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016575 {source="OMIM:618063"} ! primary ciliary dyskinesia +is_a: MONDO:0016575 {source="DOID:0111852", source="OMIM:618063"} ! primary ciliary dyskinesia [Term] id: MONDO:0054844 @@ -532465,7 +533001,7 @@ xref: DOID:0080446 {source="MONDO:equivalentTo"} xref: MEDGEN:1648486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618067 {source="MONDO:equivalentTo"} xref: UMLS:C4748070 {source="MEDGEN:1648486", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:618067"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080446", source="OMIM:618067"} ! developmental and epileptic encephalopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -532482,7 +533018,7 @@ xref: DOID:0111696 {source="MONDO:equivalentTo"} xref: MEDGEN:1648448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618074 {source="MONDO:equivalentTo"} xref: UMLS:C4748079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648448"} -is_a: MONDO:0000160 {source="OMIM:618074"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DOID:0111696", source="OMIM:618074"} ! epilepsy, familial adult myoclonic [Term] id: MONDO:0054847 @@ -532498,7 +533034,7 @@ xref: DOID:0111694 {source="MONDO:equivalentTo"} xref: MEDGEN:1648435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618075 {source="MONDO:equivalentTo"} xref: UMLS:C4748080 {source="MONDO:equivalentTo", source="MEDGEN:1648435", source="MONDO:MEDGEN"} -is_a: MONDO:0000160 {source="OMIM:618075"} ! epilepsy, familial adult myoclonic +is_a: MONDO:0000160 {source="DOID:0111694", source="OMIM:618075"} ! epilepsy, familial adult myoclonic [Term] id: MONDO:0054849 @@ -532509,7 +533045,7 @@ xref: DOID:0112155 {source="MONDO:equivalentTo"} xref: MEDGEN:1648318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618077 {source="MONDO:equivalentTo"} xref: UMLS:C4748083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648318"} -is_a: MONDO:0005265 {source="OMIM:618077"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0112155", source="OMIM:618077"} ! inflammatory bowel disease [Term] id: MONDO:0054850 @@ -532524,7 +533060,7 @@ xref: GARD:18042 {source="MONDO:GARD"} xref: MEDGEN:1648307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618078 {source="MONDO:equivalentTo"} xref: UMLS:C4748084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648307"} -is_a: MONDO:0009299 ! 46 XX gonadal dysgenesis +is_a: MONDO:0009299 {source="DOID:0080498", source="OMIM:618078"} ! 46 XX gonadal dysgenesis [Term] id: MONDO:0054852 @@ -532539,7 +533075,7 @@ xref: DOID:0070525 {source="MONDO:equivalentTo"} xref: MEDGEN:1648406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618084 {source="MONDO:equivalentTo"} xref: UMLS:C4748093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648406"} -is_a: MONDO:0019347 {source="OMIM:618084"} ! peeling skin syndrome +is_a: MONDO:0019347 {source="DOID:0070525", source="OMIM:618084"} ! peeling skin syndrome [Term] id: MONDO:0054860 @@ -532555,7 +533091,7 @@ xref: GARD:18150 {source="MONDO:GARD"} xref: MEDGEN:1648377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618094 {source="MONDO:equivalentTo"} xref: UMLS:C4748162 {source="MEDGEN:1648377", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019588 {source="OMIM:618094"} ! hearing loss, autosomal recessive +is_a: MONDO:0019588 {source="DOID:0111644", source="OMIM:618094"} ! hearing loss, autosomal recessive property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/551" xsd:anyURI @@ -532573,7 +533109,7 @@ xref: GARD:16475 {source="MONDO:GARD"} xref: MEDGEN:1648348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618095 {source="MONDO:equivalentTo"} xref: UMLS:C4748167 {source="MEDGEN:1648348", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019502 ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0081224", source="OMIM:618095"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0054862 @@ -532676,7 +533212,7 @@ xref: GARD:8406 {source="MONDO:GARD"} xref: OMIM:305700 {source="DOID:0070189", source="MONDO:equivalentTo", source="DOID:0050457"} xref: Orphanet:399805 {source="OMIM:305700"} is_a: MONDO:0004983 {source="OMIM:305700"} ! spermatogenic failure -is_a: MONDO:0010595 {source="OMIM:305700"} ! Sertoli cell-only syndrome +is_a: MONDO:0010595 {source="DOID:0070189", source="OMIM:305700"} ! Sertoli cell-only syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3633" xsd:anyURI [Term] @@ -532843,7 +533379,7 @@ xref: NCIT:C133254 {source="MONDO:equivalentTo"} xref: SCTID:723301009 {source="MONDO:equivalentTo"} xref: UMLS:C4509816 {source="MEDGEN:1383559", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma -is_a: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma +is_a: MONDO:0005233 {source="DOID:0080521", source="NCIT:C133254"} ! non-small cell lung carcinoma intersection_of: MONDO:0005097 {source="NCIT:C133254"} ! squamous cell lung carcinoma intersection_of: MONDO:0005233 {source="NCIT:C133254"} ! non-small cell lung carcinoma @@ -533000,6 +533536,7 @@ xref: MEDGEN:1648376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301015 {source="MONDO:equivalentTo"} xref: UMLS:C4746970 {source="MEDGEN:1648376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003664 {source="https://orcid.org/0000-0001-5208-3432"} ! hemolytic anemia +is_a: MONDO:0003689 {source="DOID:0111846"} ! familial hemolytic anemia relationship: has_characteristic HP:0001417 ! X-linked inheritance property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -533040,7 +533577,7 @@ xref: OMIM:617468 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:617468"} xref: UMLS:C4479539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1373185"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0015168 {source="OMIM:617468"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0080978", source="OMIM:617468"} ! arthrogryposis multiplex congenita intersection_of: MONDO:0015168 ! arthrogryposis multiplex congenita intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18712 ! LGI4 @@ -533058,7 +533595,7 @@ xref: DOID:0111764 {source="MONDO:equivalentTo"} xref: MEDGEN:1373282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617480 {source="MONDO:equivalentTo"} xref: UMLS:C4479552 {source="MEDGEN:1373282", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100249 ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="DOID:0111764"} ! 46,XX testicular disorder of sex development property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -533285,6 +533822,7 @@ xref: MEDGEN:1621146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617660 {source="MONDO:equivalentTo"} xref: UMLS:C4540004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621146"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:0020831 {source="OMIM:617660"} ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4796 ! HAAO property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -533306,6 +533844,7 @@ xref: GARD:18509 {source="MONDO:GARD"} xref: MEDGEN:1624065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617661 {source="MONDO:equivalentTo"} xref: UMLS:C4540014 {source="MEDGEN:1624065", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0020831 {source="OMIM:617661"} ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: MONDO:0020831 ! congenital vertebral-cardiac-renal anomalies syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6469 ! KYNU property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -533480,7 +534019,7 @@ xref: DOID:0111212 {source="MONDO:equivalentTo"} xref: MEDGEN:1617571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617721 {source="MONDO:equivalentTo"} xref: UMLS:C4540265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1617571"} -is_a: MONDO:0015362 {source="OMIM:617721"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111212", source="OMIM:617721"} ! neuronopathy, distal hereditary motor, autosomal dominant [Term] id: MONDO:0060589 @@ -533518,7 +534057,7 @@ xref: DOID:0080538 {source="MONDO:equivalentTo"} xref: MEDGEN:1625659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617746 {source="MONDO:equivalentTo"} xref: UMLS:C4540299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625659"} -is_a: MONDO:0002254 ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080538"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -533678,7 +534217,7 @@ xref: MEDGEN:1634304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617822 {source="MONDO:equivalentTo"} xref: Orphanet:610569 {source="MONDO:equivalentTo"} xref: UMLS:C4693347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634304"} -is_a: MONDO:0002254 ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0111555"} ! syndromic disease is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease [Term] @@ -534073,7 +534612,7 @@ xref: OMIM:618021 {source="MONDO:equivalentTo"} xref: Orphanet:3301 {source="OMIM:618021"} xref: UMLS:C4747923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648284"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome +is_a: MONDO:0010110 {source="DOID:0112193", source="OMIM:618021"} ! tetraamelia-multiple malformations syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -534217,7 +534756,7 @@ xref: MEDGEN:860705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:273395 {source="MONDO:equivalentTo"} xref: Orphanet:3301 {source="OMIM:273395"} xref: UMLS:C4012268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860705"} -is_a: MONDO:0010110 ! tetraamelia-multiple malformations syndrome +is_a: MONDO:0010110 {source="DOID:0112192", source="OMIM:273395"} ! tetraamelia-multiple malformations syndrome is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12782 {source="MONDO:mim2gene_medgen"} ! WNT3 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -535374,7 +535913,7 @@ name: Pericytoma with t(7;12) def: "A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation." [PMID:15111311] synonym: "Pericytoma t(7;12)" EXACT [] xref: DOID:0080896 {source="MONDO:equivalentTo"} -is_a: MONDO:0002604 ! pericytic neoplasm +is_a: MONDO:0002604 {source="DOID:0080896"} ! pericytic neoplasm property_value: http://purl.org/dc/elements/1.1/date "2018-11-09T22:50:48Z" xsd:dateTime property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -535596,7 +536135,7 @@ synonym: "Dravet syndrome" RELATED [OMIM:607208, OMIM:genemap2] synonym: "EIEE6" EXACT ABBREVIATION [OMIM:607208] synonym: "epileptic encephalopathy, early infantile, 6" EXACT [OMIM:607208] xref: OMIM:607208 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="https://orcid.org/0000-0001-5208-3432"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:607208", source="https://orcid.org/0000-0001-5208-3432"} ! developmental and epileptic encephalopathy relationship: disease_shares_features_of MONDO:0100135 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Dravet syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -535649,7 +536188,7 @@ xref: DOID:0080548 {source="MONDO:equivalentTo"} xref: MEDGEN:1631694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:151100 {source="Orphanet:500", source="DOID:14291", source="MONDO:equivalentTo", source="Orphanet:500/e"} xref: UMLS:C4551484 {source="MEDGEN:1631694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007893 ! Noonan syndrome with multiple lentigines +is_a: MONDO:0007893 {source="DOID:0080548", source="OMIM:151100"} ! Noonan syndrome with multiple lentigines relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9644 {source="MONDO:mim2gene_medgen"} ! PTPN11 [Term] @@ -535829,7 +536368,7 @@ synonym: "MYOCL2" EXACT ABBREVIATION [OMIM:618364] xref: MEDGEN:1683864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618364 {source="MONDO:equivalentTo"} xref: UMLS:C5193056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1683864"} -is_a: MONDO:0013981 {source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial +is_a: MONDO:0013981 {source="OMIM:618364", source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10596 ! SCN8A property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -535846,7 +536385,7 @@ synonym: "myoclonus, familial cortical" BROAD [OMIM:614937] xref: MEDGEN:761667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614937 {source="MONDO:equivalentTo"} xref: UMLS:C3539916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761667"} -is_a: MONDO:0013981 {source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial +is_a: MONDO:0013981 {source="OMIM:614937", source="https://orcid.org/0000-0001-5208-3432"} ! myoclonus, familial relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7869 {source="MONDO:mim2gene_medgen"} ! NOL3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -535878,6 +536417,7 @@ xref: MEDGEN:1648391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618170 {source="MONDO:equivalentTo"} xref: UMLS:C4748527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648391"} is_a: MONDO:0003847 {source="OMIM:618170"} ! hereditary disease +is_a: MONDO:0006025 {source="DOID:0070352"} ! autosomal recessive disease is_a: MONDO:0024237 ! inherited neurodegenerative disorder relationship: has_characteristic HP:0000007 {source="PMID:30401461"} ! Autosomal recessive inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/21304 ! ADPRS @@ -535911,6 +536451,7 @@ xref: MESH:C000657245 {source="MONDO:equivalentObsolete"} xref: MESH:D000086382 {source="MONDO:equivalentTo"} xref: SCTID:840539006 {source="MONDO:equivalentTo"} xref: UMLS:C5203670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1699653"} +is_a: MONDO:0020753 {source="DOID:0080600"} ! Orthocoronavirinae infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:2697049 ! disease has primary infectious agent Severe acute respiratory syndrome coronavirus 2 relationship: disease_has_feature HP:0000458 {source="PMID:32215896", source="PMID:32237238", source="PMID:32240279", source="doi:10.1101/2020.03.25.009084", source="https://github.com/monarch-initiative/mondo/issues/1373"} ! Anosmia @@ -535987,7 +536528,7 @@ xref: MEDGEN:220903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:208150 {source="Orphanet:994", source="MONDO:equivalentTo", source="Orphanet:994/e"} xref: Orphanet:994 {source="MONDO:equivalentTo", source="OMIM:208150"} xref: UMLS:C1276035 {source="MEDGEN:220903", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="DOID:0111377", source="OMIM:208150", source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7525 ! MUSK property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536005,7 +536546,7 @@ xref: GARD:16495 {source="MONDO:GARD"} xref: MEDGEN:1678048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618388 {source="MONDO:equivalentTo"} xref: UMLS:C4760576 {source="MEDGEN:1678048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="DOID:0111378", source="OMIM:618388", source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9863 ! RAPSN property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536023,7 +536564,7 @@ xref: GARD:16496 {source="MONDO:GARD"} xref: MEDGEN:1680087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618389 {source="MONDO:equivalentTo"} xref: UMLS:C4760599 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680087"} -is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="DOID:0111376", source="OMIM:618389", source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26594 ! DOK7 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536041,7 +536582,7 @@ xref: GARD:16497 {source="MONDO:GARD"} xref: MEDGEN:1675450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618393 {source="MONDO:equivalentTo"} xref: UMLS:C4760578 {source="MEDGEN:1675450", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008824 {source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence +is_a: MONDO:0008824 {source="DOID:0111379", source="OMIM:618393", source="https://orcid.org/0000-0001-5208-3432"} ! fetal akinesia deformation sequence intersection_of: MONDO:0008824 ! fetal akinesia deformation sequence intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/8067 ! NUP88 @@ -536057,7 +536598,7 @@ xref: DOID:0112315 {source="MONDO:equivalentTo"} xref: MEDGEN:1677948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618360 {source="MONDO:equivalentTo"} xref: UMLS:C5193053 {source="MEDGEN:1677948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0020496 ! familial porencephaly +is_a: MONDO:0020496 {source="DOID:0112315", source="OMIM:618360"} ! familial porencephaly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/26182 ! COLGALT1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536198,7 +536739,7 @@ xref: MESH:C000629404 {source="MONDO:equivalentTo"} xref: NCIT:C128379 {source="MONDO:equivalentTo"} xref: Orphanet:623801 {source="MONDO:equivalentTo"} xref: UMLS:C4290000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:927532"} -is_a: MONDO:0002565 {source="https://orcid.org/0000-0001-5208-3432"} ! myelitis +is_a: MONDO:0002565 {source="DOID:0080947", source="https://orcid.org/0000-0001-5208-3432"} ! myelitis relationship: has_characteristic PATO:0000389 ! acute [Term] @@ -536221,7 +536762,7 @@ xref: NCIT:C128424 {source="MONDO:equivalentTo"} xref: Orphanet:576074 {source="MONDO:equivalentTo"} xref: UMLS:C3694279 {source="MEDGEN:811327", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005087 {source="Orphanet:576074"} ! respiratory system disorder -is_a: MONDO:0020753 {source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease +is_a: MONDO:0020753 {source="DOID:0080642", source="https://github.com/monarch-initiative/mondo/issues/1355"} ! Orthocoronavirinae infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:1335626 ! disease has primary infectious agent Middle East respiratory syndrome-related coronavirus property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -536539,7 +537080,7 @@ xref: NCIT:C116573 {source="MONDO:equivalentTo"} xref: NORD:1061 {source="MONDO:NORD"} xref: SCTID:230437002 {source="MONDO:equivalentTo"} xref: UMLS:C0751122 {source="MEDGEN:148243", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0080422", source="https://github.com/monarch-initiative/mondo/issues/745", source="https://orcid.org/0000-0002-6647-5493"} ! developmental and epileptic encephalopathy relationship: disease_has_feature HP:0002373 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! Febrile seizure (within the age range of 3 months to 6 years) relationship: disease_shares_features_of MONDO:0100079 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! developmental and epileptic encephalopathy, 6 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10585 {source="https://github.com/monarch-initiative/mondo/issues/1637", source="https://orcid.org/0000-0001-7090-9648"} ! SCN1A @@ -536993,7 +537534,7 @@ xref: Orphanet:79134 {source="OMIMPS:606176"} xref: Orphanet:99885 {source="MONDO:equivalentTo", source="OMIMPS:606176"} xref: SCTID:609565001 {source="MONDO:equivalentTo"} xref: UMLS:C1833104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371484"} -is_a: MONDO:0016391 {source="https://orcid.org/0000-0001-5208-3432"} ! neonatal diabetes mellitus +is_a: MONDO:0016391 {source="DOID:0060639", source="Orphanet:99885", source="https://orcid.org/0000-0001-5208-3432"} ! neonatal diabetes mellitus is_a: MONDO:0017688 {source="PMID:33340416"} ! disorder of glycolysis relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606176"} ! inherited property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -537648,8 +538189,9 @@ xref: Orphanet:220465 {source="OMIM:245590", source="MONDO:equivalentTo"} xref: SCTID:724179008 {source="MONDO:equivalentTo"} xref: UMLS:C5435698 {source="MEDGEN:1734133", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0005046 {source="https://orcid.org/0000-0001-8216-5084"} ! immune system disorder +is_a: MONDO:0006025 {source="DOID:0080836"} ! autosomal recessive disease is_a: MONDO:0015892 {source="Orphanet:220465"} ! growth hormone insensitivity syndrome -is_a: MONDO:0100210 ! growth hormone insensitivity syndrome with immune dysregulation +is_a: MONDO:0100210 {source="OMIM:245590"} ! growth hormone insensitivity syndrome with immune dysregulation intersection_of: MONDO:0100210 ! growth hormone insensitivity syndrome with immune dysregulation intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11367 ! STAT5B @@ -537711,7 +538253,8 @@ xref: OMIM:308205 {source="Orphanet:2273/e", source="MONDO:equivalentTo", source xref: Orphanet:2273 {source="OMIM:308205"} xref: Orphanet:85284 {source="OMIM:308205"} xref: UMLS:C5399971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1746744"} -is_a: MONDO:0100212 {xref="OMIM:308205", source="https://orcid.org/0000-0001-5208-3432"} ! IFAP syndrome +is_a: MONDO:0020605 {source="DOID:0111821"} ! X-linked recessive disease +is_a: MONDO:0100212 {xref="OMIM:308205", source="OMIM:308205", source="https://orcid.org/0000-0001-5208-3432"} ! IFAP syndrome intersection_of: MONDO:0100212 ! IFAP syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/15455 ! MBTPS2 relationship: excluded_subClassOf MONDO:0015331 {source="Orphanet:2273", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete malformation syndrome with skin/mucosae involvement @@ -537790,7 +538333,7 @@ xref: NCIT:C123317 {source="MONDO:equivalentTo"} xref: Orphanet:284343 {source="MONDO:equivalentTo"} xref: SCTID:702411003 {source="MONDO:equivalentTo"} xref: UMLS:C3839822 {source="MEDGEN:825667", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C123317/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0081063", source="NCIT:C123317/inferred", source="https://orcid.org/0000-0002-6601-2165"} ! syndromic disease relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17098 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! DICER1 relationship: predisposes_towards MONDO:0004992 {source="https://clinicalgenome.org/affiliation/40023/", source="https://clinicalgenome.org/affiliation/50050/"} ! cancer property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -537808,7 +538351,7 @@ xref: DOID:0070478 {source="MONDO:equivalentTo"} xref: MEDGEN:1823996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620062 {source="MONDO:equivalentTo"} xref: UMLS:C5774223 {source="MEDGEN:1823996", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0031632 {source="OMIM:620062"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair +is_a: MONDO:0031632 {source="DOID:0070478", source="OMIM:620062"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537825,7 +538368,7 @@ xref: MEDGEN:1731112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618947 {source="MONDO:equivalentTo"} xref: UMLS:C5436453 {source="MEDGEN:1731112", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0015168 {source="OMIM:618947"} ! arthrogryposis multiplex congenita +is_a: MONDO:0015168 {source="DOID:0080981", source="OMIM:618947"} ! arthrogryposis multiplex congenita property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -537906,7 +538449,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0112065 {source="MONDO:equivalentTo"} xref: OMIMPS:252010 {source="MONDO:equivalentTo"} -is_a: MONDO:0100133 {xref="https://orcid.org/0000-0001-5208-3432", source="OMIMPS:252010", source="https://github.com/monarch-initiative/mondo/issues/1042"} ! mitochondrial complex I deficiency +is_a: MONDO:0100133 {xref="https://orcid.org/0000-0001-5208-3432", source="DOID:0112065", source="OMIMPS:252010", source="https://github.com/monarch-initiative/mondo/issues/1042"} ! mitochondrial complex I deficiency relationship: has_characteristic MONDO:0021152 {source="OMIMPS:252010"} ! inherited property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -537930,7 +538473,7 @@ xref: NANDO:1200180 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0 xref: OMIM:252010 {source="Orphanet:2609/e", source="MONDO:equivalentTo", source="DOID:0060536", source="Orphanet:2609"} xref: Orphanet:2609 {source="OMIM:252010", source="DOID:0060536"} is_a: MONDO:0009637 {source="Orphanet:2609"} ! inborn mitochondrial myopathy -is_a: MONDO:0100223 {source="MONDO:metaclass", source="OMIM:252010", source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, nuclear type +is_a: MONDO:0100223 {source="DOID:0112074", source="MONDO:metaclass", source="OMIM:252010", source="https://github.com/monarch-initiative/mondo/issues/1042", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex I deficiency, nuclear type intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7711 ! NDUFS4 relationship: excluded_subClassOf MONDO:0000066 {source="DC-OMIM:252010", source="https://orcid.org/0000-0001-5208-3432"} ! mitochondrial complex deficiency @@ -538392,7 +538935,7 @@ xref: MEDGEN:411324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C179867 {source="MONDO:equivalentTo"} xref: OMIM:400045 {source="MONDO:equivalentTo", source="Orphanet:393", source="Orphanet:393/e"} xref: UMLS:C2748895 {source="MONDO:equivalentTo", source="MEDGEN:411324", source="MONDO:MEDGEN"} -is_a: MONDO:0100249 {source="OMIM:400045"} ! 46,XX testicular disorder of sex development +is_a: MONDO:0100249 {source="DOID:0111761", source="OMIM:400045"} ! 46,XX testicular disorder of sex development relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11311 {source="MONDO:mim2gene_medgen", source="OMIM:400045"} ! SRY property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -538432,7 +538975,7 @@ xref: UMLS:C1876187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source= is_a: MONDO:0005066 ! metabolic disease is_a: MONDO:0005093 ! skin disorder is_a: MONDO:0018891 {source="DC-OMIM:211900", source="Orphanet:306661"} ! familial tumoral calcinosis -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C131851", source="Orphanet:306661/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0111063", source="MONDO:Redundant", source="NCIT:C131851", source="Orphanet:306661/inferred"} ! inborn errors of metabolism relationship: has_characteristic MONDO:0021136 ! rare relationship: has_characteristic MONDO:0021140 ! congenital property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -538503,7 +539046,7 @@ xref: OMIM:269000 {source="MONDO:equivalentObsolete", source="DOID:0050536"} xref: Orphanet:3103 {source="MONDO:equivalentTo", source="OMIM:268300"} xref: SCTID:48718006 {source="DOID:5325", source="MONDO:equivalentTo"} xref: UMLS:C0392475 {source="MEDGEN:95931", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0002254 {source="NCIT:C126326", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:5325", source="NCIT:C126326", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease is_a: MONDO:0006025 {source="DOID:5325", source="MONDO:Redundant", source="OMIM:268300"} ! autosomal recessive disease is_a: MONDO:0019713 {source="PMID:31633310"} ! non-syndromic limb reduction defect relationship: excluded_subClassOf MONDO:0015335 {source="Orphanet:3103", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete Mendelian syndromes with cleft lip/palate @@ -539103,7 +539646,7 @@ subset: rare xref: MEDGEN:474430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C96470 {source="MONDO:equivalentTo"} xref: UMLS:C3272797 {source="MEDGEN:474430", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015524 {source="https://github.com/monarch-initiative/mondo/issues/2762", source="https://orcid.org/0000-0001-5493-2602"} ! hyperplastic polyposis syndrome +is_a: MONDO:0015524 {source="NCIT:C96470", source="https://github.com/monarch-initiative/mondo/issues/2762", source="https://orcid.org/0000-0001-5493-2602"} ! hyperplastic polyposis syndrome is_a: MONDO:0021400 {source="NCIT:C96470"} ! polyp of colon property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -539216,7 +539759,7 @@ xref: GARD:15818 {source="MONDO:GARD"} xref: MEDGEN:1778121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614594 {source="MONDO:equivalentTo", source="Orphanet:659", source="GARD:0004075", source="Orphanet:659/btnt"} xref: UMLS:C5542829 {source="MEDGEN:1778121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0031421 {source="OMIM:614594"} ! Olmsted syndrome +is_a: MONDO:0031421 {source="DOID:0112013", source="OMIM:614594"} ! Olmsted syndrome relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18084 {source="MONDO:mim2gene_medgen"} ! TRPV3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -539228,7 +539771,7 @@ synonym: "SSFSC" RELATED ABBREVIATION [OMIM:617877] xref: MEDGEN:1778119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617877 {source="MONDO:equivalentTo"} xref: UMLS:C5542952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778119"} -is_a: MONDO:0031439 {source="https://orcid.org/0000-0001-5208-3432"} ! short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +is_a: MONDO:0031439 {source="OMIM:617877", source="https://orcid.org/0000-0001-5208-3432"} ! short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [Term] id: MONDO:0100298 @@ -539773,6 +540316,7 @@ xref: EFO:0003103 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:52943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014552 {source="MONDO:equivalentTo"} xref: UMLS:C0042029 {source="MEDGEN:52943", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +is_a: MONDO:0002118 {source="DOID:0080784"} ! urinary system disorder is_a: MONDO:0005550 ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0001008 ! renal system @@ -539836,7 +540380,7 @@ xref: MEDGEN:383962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565561 {source="MONDO:equivalentTo"} xref: OMIM:229300 {source="Orphanet:95/e", source="MONDO:equivalentTo", source="DOID:12705", source="Orphanet:95"} xref: UMLS:C1856689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:383962"} -is_a: MONDO:0100339 {source="OMIM:229300", source="https://github.com/monarch-initiative/mondo/issues/2807", source="https://orcid.org/0000-0001-5493-2602"} ! Friedreich ataxia +is_a: MONDO:0100339 {source="DOID:0111218", source="OMIM:229300", source="https://github.com/monarch-initiative/mondo/issues/2807", source="https://orcid.org/0000-0001-5493-2602"} ! Friedreich ataxia relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/3951 {source="OMIM:229300"} ! FXN property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -539956,7 +540500,7 @@ xref: Orphanet:620217 {source="MONDO:equivalentTo"} xref: Orphanet:93604 {source="OMIM:601678"} xref: SCTID:700107006 {source="MONDO:equivalentTo"} xref: UMLS:C1866495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355727"} -is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="OMIM:601678", source="Orphanet:93604"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDO:Redundant", source="OMIM:601678", source="Orphanet:620217", source="Orphanet:93604"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 ! SLC12A1 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10910 {source="MONDO:mim2gene_medgen"} ! SLC12A1 @@ -540115,7 +540659,7 @@ xref: MEDGEN:318838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563443 {source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="MONDO:equivalentTo"} xref: UMLS:C1833308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318838"} -is_a: MONDO:0015362 {source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0111203", source="Orphanet:139536", source="https://orcid.org/0000-0001-5208-3432"} ! neuronopathy, distal hereditary motor, autosomal dominant property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 [Term] @@ -540566,7 +541110,7 @@ synonym: "AML, t(6;9)(p23;q34.1)" EXACT [NCIT:C36532] xref: DOID:0081080 {source="MONDO:equivalentTo"} xref: NCIT:C36532 {source="MONDO:otherHierarchy"} xref: NCIT:C82423 {source="MONDO:equivalentTo"} -is_a: MONDO:0018874 {source="NCIT:C36532"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081080", source="NCIT:C36532"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI @@ -540877,7 +541421,7 @@ synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Dr xref: DOID:0081094 {source="MONDO:equivalentTo"} xref: NCIT:C122623 {source="MONDO:otherHierarchy"} xref: NCIT:C174129 {source="MONDO:equivalentTo"} -is_a: MONDO:0018874 {source="NCIT:C122623"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081094", source="NCIT:C122623"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI @@ -540947,7 +541491,7 @@ synonym: "AML, t(3;5)(q25;q34)" EXACT [NCIT:C36415] xref: DOID:0081092 {source="MONDO:equivalentTo"} xref: NCIT:C36415 {source="MONDO:otherHierarchy"} xref: NCIT:C7600 {source="MONDO:equivalentTo"} -is_a: MONDO:0018874 {source="NCIT:C36415"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081092", source="NCIT:C36415", source="NCIT:C7600"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI @@ -541012,7 +541556,7 @@ synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [NCIT:C157569] synonym: "AML, CEBPA Biallelic Mutation" EXACT [NCIT:C157569] xref: DOID:0081090 {source="MONDO:equivalentTo"} xref: NCIT:C157569 {source="MONDO:otherHierarchy"} -is_a: MONDO:0018874 {source="NCIT:C157569"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081090", source="NCIT:C157569"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI @@ -541177,7 +541721,7 @@ synonym: "AML, RUNX1 gene mutation" EXACT [NCIT:C38362] xref: DOID:0081091 {source="MONDO:equivalentTo"} xref: NCIT:C129786 {source="MONDO:equivalentTo"} xref: NCIT:C38362 {source="MONDO:otherHierarchy"} -is_a: MONDO:0018874 {source="NCIT:C38362"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="DOID:0081091", source="NCIT:C38362"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3452" xsd:anyURI @@ -541260,7 +541804,7 @@ xref: OMIM:211500 {source="MONDO:equivalentTo"} xref: Orphanet:56965 {source="MONDO:equivalentObsolete"} xref: SCTID:230246005 {source="MONDO:equivalentTo"} xref: UMLS:C0015708 {source="MEDGEN:41975", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0008890 {source="https://orcid.org/0000-0001-5493-2602"} ! progressive bulbar palsy +is_a: MONDO:0008890 {source="DOID:0080632", source="https://orcid.org/0000-0001-5493-2602"} ! progressive bulbar palsy intersection_of: MONDO:0008890 ! progressive bulbar palsy intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -541295,7 +541839,7 @@ xref: MEDGEN:82788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535932 {source="MONDO:equivalentTo", source="DOID:0070227"} xref: Orphanet:69665 {source="MONDO:equivalentTo", source="DOID:0070227"} xref: UMLS:C0268318 {source="MONDO:equivalentTo", source="MEDGEN:82788", source="MONDO:MEDGEN"} -is_a: MONDO:0019072 {source="Orphanet:69665"} ! intrahepatic cholestasis +is_a: MONDO:0019072 {source="DOID:0070227", source="Orphanet:69665"} ! intrahepatic cholestasis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3897" xsd:anyURI @@ -541323,7 +541867,7 @@ xref: MESH:D020326 {source="MONDO:equivalentTo"} xref: NCIT:C117004 {source="MONDO:equivalentTo"} xref: SCTID:56097005 {source="MONDO:equivalentTo"} xref: UMLS:C0338480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:137899"} -is_a: MONDO:0005277 {source="https://orcid.org/0000-0001-7451-4467"} ! migraine disorder +is_a: MONDO:0005277 {source="DOID:12783", source="https://orcid.org/0000-0001-7451-4467"} ! migraine disorder property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3984" xsd:anyURI @@ -541402,7 +541946,7 @@ xref: DOID:0110235 {source="MONDO:equivalentTo"} xref: MEDGEN:1648415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604307 {source="MONDO:equivalentTo", source="DOID:0110235"} xref: UMLS:C4721890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648415"} -is_a: MONDO:0005129 {source="OMIM:60430"} ! cataract +is_a: MONDO:0005129 {source="DOID:0110235", source="OMIM:60430", source="OMIM:604307"} ! cataract property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3904" xsd:anyURI @@ -541778,6 +542322,7 @@ synonym: "dominant RPE65 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenom synonym: "retinitis pigmentosa 87 with choroidal involvement" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "RP87" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] xref: DOID:0112144 {source="MONDO:equivalentTo"} +is_a: MONDO:0000426 {source="DOID:0112144"} ! autosomal dominant disease is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10294 {source="https://clinicalgenome.org/affiliation/40072/"} ! RPE65 @@ -542009,7 +542554,7 @@ xref: MEDGEN:1381271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:99001 {source="MONDO:equivalentTo"} xref: SCTID:725590001 {source="MONDO:equivalentTo"} xref: UMLS:C4511237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381271"} -is_a: MONDO:0018973 {source="https://orcid.org/0000-0001-5208-3432"} ! patterned dystrophy of the retinal pigment epithelium +is_a: MONDO:0018973 {source="Orphanet:99001", source="https://orcid.org/0000-0001-5208-3432"} ! patterned dystrophy of the retinal pigment epithelium property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1819" xsd:anyURI @@ -543362,7 +543907,7 @@ xref: GARD:22195 {source="MONDO:GARD"} xref: MEDGEN:743231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:528647 {source="MONDO:equivalentTo"} xref: UMLS:C1960459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743231"} -is_a: MONDO:0019623 ! hereditary angioedema +is_a: MONDO:0019623 {source="Orphanet:528647"} ! hereditary angioedema property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7581" xsd:anyURI @@ -543820,7 +544365,7 @@ xref: NCIT:C80347 {source="MONDO:equivalentTo"} xref: Orphanet:585956 {source="MONDO:equivalentTo"} xref: SCTID:450956008 {source="MONDO:equivalentTo"} xref: UMLS:C2698315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396324"} -is_a: MONDO:0004947 {source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia +is_a: MONDO:0004947 {source="DOID:0080649", source="https://orcid.org/0000-0001-5208-3432"} ! B-cell acute lymphoblastic leukemia relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: has_characteristic PATO:0000389 ! acute property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-5460-8025 @@ -545346,7 +545891,7 @@ subset: rare synonym: "Dopamine transporter deficiency syndrome" EXACT [GARD:0010484] synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484] xref: DOID:0070487 {source="MONDO:equivalentTo"} -is_a: MONDO:0005395 {source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder +is_a: MONDO:0005395 {source="DOID:0070487", source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11049 {source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI @@ -545924,6 +546469,7 @@ def: "A melanoma that affects the lip and/or oral cavity of a dog." [NCIT:C18563 xref: NCIT:C185639 {source="MONDO:equivalentTo"} is_a: MONDO:0700132 {source="https://orcid.org/0000-0002-4142-7153"} ! melanoma, non-human animal is_a: MONDO:0700139 {source="NCIT:C185639"} ! canine neoplasm +is_a: MONDO:0700141 {source="NCIT:C185639"} ! canine melanoma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5252" xsd:anyURI @@ -545933,6 +546479,7 @@ name: canine cutaneous t-cell lymphoma def: "Cutaneous T-cell lymphoma occurring in a dog." [NCIT:C186279] xref: NCIT:C186279 {source="MONDO:equivalentTo"} is_a: MONDO:0700139 {source="NCIT:C186279"} ! canine neoplasm +is_a: MONDO:0700145 {source="NCIT:C186279"} ! canine lymphoma intersection_of: MONDO:0005583 ! non-human animal disease intersection_of: in_taxon NCBITaxon:9615 ! Canis lupus familiaris intersection_of: MONDO:0700097 MONDO:0000607 ! cross-species analog primary cutaneous T-cell non-Hodgkin lymphoma @@ -546264,7 +546811,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "atypical DTDS" EXACT ABBREVIATION [GARD:0010484] xref: DOID:0070488 {source="MONDO:equivalentTo"} -is_a: MONDO:0700117 {source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3-related dopamine transporter deficiency syndrome +is_a: MONDO:0700117 {source="DOID:0070488", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3-related dopamine transporter deficiency syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5523" xsd:anyURI @@ -546851,7 +547398,7 @@ xref: DOID:0081358 {source="MONDO:equivalentTo"} xref: MEDGEN:1826137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:113800 {source="MONDO:equivalentTo"} xref: UMLS:C5781874 {source="MEDGEN:1826137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007239 {source="OMIM:113800"} ! epidermolytic ichthyosis +is_a: MONDO:0007239 {source="DOID:0081358", source="OMIM:113800"} ! epidermolytic ichthyosis intersection_of: MONDO:0007239 ! epidermolytic ichthyosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6412 ! KRT1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -546877,7 +547424,7 @@ xref: DOID:0080400 {source="MONDO:equivalentTo"} xref: MEDGEN:371589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:225060 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1833538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371589"} -is_a: MONDO:0000358 {source="OMIM:225060"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:0080400", source="OMIM:225060"} ! orofacial cleft property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 [Term] @@ -547017,7 +547564,7 @@ xref: GARD:21957 {source="MONDO:GARD"} xref: MEDGEN:1842334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:477647 {source="MONDO:equivalentTo"} xref: UMLS:C5681258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842334"} -is_a: MONDO:0019751 {source="PMID:37161741", source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome +is_a: MONDO:0019751 {source="Orphanet:477647", source="PMID:37161741", source="https://orcid.org/0000-0002-4142-7153"} ! autoinflammatory syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7365" xsd:anyURI [Term] @@ -547167,7 +547714,7 @@ xref: ICD10CM:Q87.0 {source="Orphanet:1519/attributed", source="Orphanet:1519/nt xref: OMIM:145420 {source="Orphanet:1519/e", source="MONDO:equivalentTo", source="Orphanet:1519"} xref: Orphanet:1519 {source="MONDO:equivalentTo", source="OMIM:145420"} xref: SCTID:724284005 {source="MONDO:equivalentTo"} -is_a: MONDO:0030639 {source="OMIM:145420"} ! Teebi hypertelorism syndrome +is_a: MONDO:0030639 {source="DOID:0080698", source="OMIM:145420"} ! Teebi hypertelorism syndrome intersection_of: MONDO:0030639 ! Teebi hypertelorism syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29022 ! SPECC1L relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -547214,7 +547761,7 @@ xref: Orphanet:661 {source="MONDO:equivalentTo", source="DOID:0060731", source=" xref: Orphanet:99803 {source="OMIM:209880"} xref: SCTID:230499002 {source="MONDO:equivalentTo"} xref: UMLS:C5562075 {source="MEDGEN:1794285", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0001292 {source="Orphanet:661"} ! autonomic nervous system disorder +is_a: MONDO:0001292 {source="DOID:0060731", source="Orphanet:661"} ! autonomic nervous system disorder is_a: MONDO:0002254 {source="MONDO:0008852", source="NCIT:C98889"} ! syndromic disease is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy is_a: MONDO:0800031 {source="OMIM:209880"} ! central hypoventilation syndrome, congenital @@ -547270,7 +547817,7 @@ xref: OMIM:221820 {source="Orphanet:313808/e", source="MONDO:equivalentTo", sour xref: Orphanet:313808 {source="MONDO:equivalentTo", source="OMIM:221820"} xref: SCTID:702427005 {source="MONDO:equivalentTo"} xref: UMLS:C5561929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794139"} -is_a: MONDO:0019046 {source="Orphanet:313808"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0080523", source="Orphanet:313808"} ! leukodystrophy is_a: MONDO:0030796 {source="OMIM:221820"} ! leukoencephalopathy, hereditary diffuse, with spheroids intersection_of: MONDO:0030796 ! leukoencephalopathy, hereditary diffuse, with spheroids intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2433 ! CSF1R @@ -547350,8 +547897,8 @@ xref: SCTID:426437004 {source="DOID:0050156"} xref: SCTID:700250006 {source="EFO:0000768"} xref: UMLS:C5561926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794136"} is_a: MONDO:0002429 {source="DOID:0050156", source="MESH:D054990", source="MONDO:0008345", source="Orphanet:2032", source="https://en.wikipedia.org/wiki/Idiopathic_interstitial_pneumonia"} ! idiopathic interstitial pneumonia -is_a: MONDO:0002771 {source="MESH:D054990", source="NCIT:C35716"} ! pulmonary fibrosis -is_a: MONDO:0031199 {source="OMIM:619611"} ! inherited interstitial lung disease +is_a: MONDO:0002771 {source="DOID:0050156", source="MESH:D054990", source="NCIT:C35716"} ! pulmonary fibrosis +is_a: MONDO:0031199 {source="OMIM:178500", source="OMIM:619611"} ! inherited interstitial lung disease is_a: MONDO:0100137 {source="PMID:29804726"} ! telomere syndrome intersection_of: MONDO:0031199 ! inherited interstitial lung disease intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10799 ! SFTPA2 @@ -547541,7 +548088,7 @@ xref: SCTID:400128006 {source="MONDO:equivalentTo"} xref: UMLS:C5676878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1812447"} is_a: MONDO:0015160 {source="Orphanet:1662"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy -is_a: MONDO:0031213 {source="OMIM:275210"} ! restrictive dermopathy +is_a: MONDO:0031213 {source="DOID:0070369", source="OMIM:275210"} ! restrictive dermopathy relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4864" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7116" xsd:anyURI @@ -547684,7 +548231,7 @@ xref: OMIM:609698 {source="Orphanet:171706", source="MONDO:equivalentTo", source xref: Orphanet:171706 {source="MONDO:equivalentTo", source="OMIM:609698"} xref: UMLS:C5676891 {source="MEDGEN:1801974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0016412 {source="Orphanet:171706"} ! peripheral hypothyroidism -is_a: MONDO:0031432 {source="https://orcid.org/0000-0001-5493-2602"} ! thyroid hormone metabolism, abnormal +is_a: MONDO:0031432 {source="OMIM:609698", source="https://orcid.org/0000-0001-5493-2602"} ! thyroid hormone metabolism, abnormal relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/30972 {source="MONDO:mim2gene_medgen"} ! SECISBP2 [Term] @@ -547709,7 +548256,7 @@ xref: OMIM:613112 {source="DOID:0090102", source="MONDO:equivalentTo"} xref: Orphanet:140957 {source="OMIM:613112", source="DOID:0090102"} xref: UMLS:C5676892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1811721"} is_a: MONDO:0015372 {source="MONDO:Redundant", source="Orphanet:140957/btnt"} ! autosomal dominant macrothrombocytopenia -is_a: MONDO:0031447 {source="DOID:0090102", source="MESH:C567747", source="MONDO:Redundant", source="MONDO:indirect"} ! macrothrombocytopenia, isolated +is_a: MONDO:0031447 {source="DOID:0090102", source="MESH:C567747", source="MONDO:Redundant", source="MONDO:indirect", source="OMIM:613112"} ! macrothrombocytopenia, isolated intersection_of: MONDO:0015372 ! autosomal dominant macrothrombocytopenia intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/16257 ! TUBB1 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -548331,7 +548878,7 @@ subset: rare xref: MEDGEN:1809613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619752 {source="MONDO:equivalentTo"} xref: UMLS:C5676920 {source="MEDGEN:1809613", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018037 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="OMIM:619752", source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! hyper-IgE syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI [Term] @@ -549800,7 +550347,7 @@ xref: DOID:0070020 {source="MONDO:equivalentTo"} xref: MEDGEN:815132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615190 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3808802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815132"} -is_a: MONDO:0015780 {source="https://orcid.org/0000-0001-5208-3432"} ! dyskeratosis congenita +is_a: MONDO:0015780 {source="DOID:0070020", source="https://orcid.org/0000-0001-5208-3432"} ! dyskeratosis congenita property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI [Term] @@ -549881,7 +550428,7 @@ xref: DOID:0080276 {source="MONDO:equivalentTo"} xref: MEDGEN:1625238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617562 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4539715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1625238"} -is_a: MONDO:0018772 {source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID:0080276", source="https://orcid.org/0000-0001-5208-3432"} ! Joubert syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI [Term] @@ -550561,7 +551108,7 @@ xref: OMIM:213980 {source="GARD:0001210", source="Orphanet:1394/e", source="MOND xref: Orphanet:1394 {source="OMIM:213980", source="MONDO:equivalentTo"} xref: SCTID:720635002 {source="MONDO:equivalentTo"} xref: UMLS:C5677021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1808104"} -is_a: MONDO:0031329 {source="OMIM:213980"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome +is_a: MONDO:0031329 {source="DOID:0081124", source="OMIM:213980"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:1394", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -550621,7 +551168,7 @@ xref: DOID:0070477 {source="MONDO:equivalentTo"} xref: GARD:17814 {source="MONDO:GARD"} xref: OMIM:616901 {source="Orphanet:459061", source="MONDO:equivalentTo", source="Orphanet:459061/e"} xref: Orphanet:459061 {source="MONDO:equivalentTo"} -is_a: MONDO:0031632 {source="OMIM:616901"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair +is_a: MONDO:0031632 {source="DOID:0070477", source="OMIM:616901"} ! developmental delay with short stature, dysmorphic facial features, and sparse hair relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:459061", source="https://orcid.org/0000-0001-5208-3432"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -551920,7 +552467,7 @@ name: spitzoid melanoma xref: DOID:0070326 {source="MONDO:equivalentTo"} xref: MEDGEN:1713307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C3495721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1713307"} -is_a: MONDO:0005012 ! cutaneous melanoma +is_a: MONDO:0005012 {source="DOID:0070326"} ! cutaneous melanoma [Term] id: MONDO:0850102 @@ -552039,7 +552586,7 @@ name: melanoma in congenital melanocytic nevus xref: DOID:0070327 {source="MONDO:equivalentTo"} xref: MEDGEN:313976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1711221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:313976"} -is_a: MONDO:0005012 ! cutaneous melanoma +is_a: MONDO:0005012 {source="DOID:0070327"} ! cutaneous melanoma [Term] id: MONDO:0850112 @@ -552125,7 +552672,7 @@ is_a: MONDO:0002516 {source="DOID:0080374"} ! digestive system cancer id: MONDO:0850130 name: gastroesophageal adenocarcinoma xref: DOID:0080375 {source="MONDO:equivalentTo"} -is_a: MONDO:0004970 {source="https://orcid.org/0000-0001-5208-3432"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:0080375", source="https://orcid.org/0000-0001-5208-3432"} ! adenocarcinoma [Term] id: MONDO:0850144 @@ -552177,7 +552724,7 @@ name: tongue carcinoma xref: DOID:0080641 {source="MONDO:equivalentTo"} xref: MEDGEN:154320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0558353 {source="MONDO:equivalentTo", source="MEDGEN:154320", source="MONDO:MEDGEN"} -is_a: MONDO:0004631 ! tongue cancer +is_a: MONDO:0004631 {source="DOID:0080641"} ! tongue cancer is_a: MONDO:0004993 {source="https://orcid.org/0000-0001-5208-3432"} ! carcinoma [Term] @@ -552431,7 +552978,7 @@ id: MONDO:0850284 name: extrinsic asthma def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies." [DOID:0080811] xref: DOID:0080811 {source="MONDO:equivalentTo"} -is_a: MONDO:0850282 {source="https://orcid.org/0000-0002-4142-7153"} ! chronic asthma +is_a: MONDO:0850282 {source="DOID:0080811", source="https://orcid.org/0000-0002-4142-7153"} ! chronic asthma relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -553033,7 +553580,7 @@ xref: DOID:0081249 {source="MONDO:equivalentTo"} xref: MEDGEN:1714743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C165671 {source="MONDO:equivalentTo"} xref: UMLS:C5237359 {source="MONDO:equivalentTo", source="MEDGEN:1714743", source="MONDO:MEDGEN"} -is_a: MONDO:0006974 {source="DOID:0081249"} ! small cell sarcoma +is_a: MONDO:0006974 {source="DOID:0081249", source="NCIT:C165671"} ! small cell sarcoma [Term] id: MONDO:0858926 @@ -553545,7 +554092,7 @@ xref: MEDGEN:1784907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619322 {source="MONDO:equivalentTo"} xref: Orphanet:659873 {source="MONDO:equivalentTo"} xref: UMLS:C5543388 {source="MEDGEN:1784907", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015333 {source="OMIM:619322"} ! progeroid syndrome +is_a: MONDO:0015333 {source="OMIM:619322", source="Orphanet:659873"} ! progeroid syndrome [Term] id: MONDO:0859148 @@ -554237,7 +554784,7 @@ xref: DOID:0070428 {source="MONDO:equivalentTo"} xref: MEDGEN:1806598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619743 {source="MONDO:equivalentTo"} xref: UMLS:C5676915 {source="MEDGEN:1806598", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:619743"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070428", source="OMIM:619743"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0859229 @@ -554290,7 +554837,7 @@ xref: DOID:0081143 {source="MONDO:equivalentTo"} xref: MEDGEN:1808468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619824 {source="MONDO:equivalentTo"} xref: UMLS:C5676958 {source="MEDGEN:1808468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015977 {source="OMIM:619824"} ! agammaglobulinemia +is_a: MONDO:0015977 {source="DOID:0081143", source="OMIM:619824"} ! agammaglobulinemia [Term] id: MONDO:0859235 @@ -554367,7 +554914,7 @@ xref: DOID:0070406 {source="MONDO:equivalentTo"} xref: MEDGEN:1805365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619851 {source="MONDO:equivalentTo"} xref: UMLS:C5676974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805365"} -is_a: MONDO:0019046 {source="OMIM:619851"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070406", source="OMIM:619851"} ! leukodystrophy [Term] id: MONDO:0859243 @@ -554394,7 +554941,7 @@ xref: DOID:0070413 {source="MONDO:equivalentTo"} xref: MEDGEN:1802496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619862 {source="MONDO:equivalentTo"} xref: UMLS:C5676978 {source="MEDGEN:1802496", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015244 {source="OMIM:619862"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070413", source="OMIM:619862"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0859246 @@ -554650,7 +555197,7 @@ xref: DOID:0081425 {source="MONDO:equivalentTo"} xref: MEDGEN:1823974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620011 {source="MONDO:equivalentTo"} xref: UMLS:C5774201 {source="MEDGEN:1823974", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015363 {source="OMIM:620011"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0081425", source="OMIM:620011"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0859280 @@ -554796,7 +555343,7 @@ xref: DOID:0081399 {source="MONDO:equivalentTo"} xref: MEDGEN:1824007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620080 {source="MONDO:equivalentTo"} xref: UMLS:C5774234 {source="MEDGEN:1824007", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0015362 {source="OMIM:620080"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0081399", source="OMIM:620080"} ! neuronopathy, distal hereditary motor, autosomal dominant [Term] id: MONDO:0859301 @@ -554880,7 +555427,7 @@ xref: DOID:0070457 {source="MONDO:equivalentTo"} xref: MEDGEN:1824020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620106 {source="MONDO:equivalentTo"} xref: UMLS:C5774247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824020"} -is_a: MONDO:0019064 {source="OMIM:620106"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070457", source="OMIM:620106"} ! hereditary spastic paraplegia [Term] id: MONDO:0859310 @@ -554892,7 +555439,7 @@ xref: MEDGEN:1824021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620107 {source="MONDO:equivalentTo"} xref: UMLS:C5774248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824021"} is_a: MONDO:0003847 {source="OMIM:620107"} ! hereditary disease -is_a: MONDO:0015375 {source="OMIM:620107", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0060960", source="OMIM:620107", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome [Term] id: MONDO:0859311 @@ -554929,7 +555476,7 @@ xref: DOID:0070394 {source="MONDO:equivalentTo"} xref: MEDGEN:1824026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620115 {source="MONDO:equivalentTo"} xref: UMLS:C5774253 {source="MEDGEN:1824026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620115"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070394", source="OMIM:620115"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0859316 @@ -555008,7 +555555,7 @@ xref: DOID:0070429 {source="MONDO:equivalentTo"} xref: MEDGEN:1824034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620139 {source="MONDO:equivalentTo"} xref: UMLS:C5774261 {source="MEDGEN:1824034", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:620139"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070429", source="OMIM:620139"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0859324 @@ -555027,7 +555574,7 @@ xref: DOID:0070378 {source="MONDO:equivalentTo"} xref: MEDGEN:1824036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620145 {source="MONDO:equivalentTo"} xref: UMLS:C5774263 {source="MEDGEN:1824036", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620145"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070378", source="OMIM:620145"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0859327 @@ -555038,7 +555585,7 @@ xref: DOID:0070395 {source="MONDO:equivalentTo"} xref: MEDGEN:1824038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620149 {source="MONDO:equivalentTo"} xref: UMLS:C5774265 {source="MEDGEN:1824038", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620149"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070395", source="OMIM:620149"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0859328 @@ -555113,7 +555660,7 @@ xref: DOID:0081347 {source="MONDO:equivalentTo"} xref: MEDGEN:1824046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620161 {source="MONDO:equivalentTo"} xref: UMLS:C5774273 {source="MEDGEN:1824046", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620161"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081347", source="OMIM:620161"} ! congenital myopathy [Term] id: MONDO:0859336 @@ -555132,7 +555679,7 @@ xref: DOID:0070430 {source="MONDO:equivalentTo"} xref: MEDGEN:1824048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620167 {source="MONDO:equivalentTo"} xref: UMLS:C5774275 {source="MEDGEN:1824048", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000732 {source="OMIM:620167"} ! combined oxidative phosphorylation deficiency +is_a: MONDO:0000732 {source="DOID:0070430", source="OMIM:620167"} ! combined oxidative phosphorylation deficiency [Term] id: MONDO:0859338 @@ -555169,7 +555716,7 @@ xref: DOID:0060968 {source="MONDO:equivalentTo"} xref: MEDGEN:1824052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620177 {source="MONDO:equivalentTo"} xref: UMLS:C5774279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824052"} -is_a: MONDO:0003037 {source="OMIM:620177"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0060968", source="OMIM:620177"} ! hypotrichosis [Term] id: MONDO:0859342 @@ -555303,7 +555850,7 @@ xref: DOID:0070414 {source="MONDO:equivalentTo"} xref: MEDGEN:1824070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620208 {source="MONDO:equivalentTo"} xref: UMLS:C5774297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824070"} -is_a: MONDO:0015244 {source="OMIM:620208"} ! autosomal recessive cerebellar ataxia +is_a: MONDO:0015244 {source="DOID:0070414", source="OMIM:620208"} ! autosomal recessive cerebellar ataxia [Term] id: MONDO:0859361 @@ -555322,7 +555869,7 @@ xref: DOID:0081328 {source="MONDO:equivalentTo"} xref: MEDGEN:1824072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620211 {source="MONDO:equivalentTo"} xref: UMLS:C5774299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824072"} -is_a: MONDO:0005803 {source="OMIM:620211"} ! hyperinsulinemic hypoglycemia +is_a: MONDO:0005803 {source="DOID:0081328", source="OMIM:620211"} ! hyperinsulinemic hypoglycemia [Term] id: MONDO:0859363 @@ -555333,7 +555880,7 @@ xref: DOID:0070455 {source="MONDO:equivalentTo"} xref: MEDGEN:1824073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620221 {source="MONDO:equivalentTo"} xref: UMLS:C5774300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824073"} -is_a: MONDO:0019064 {source="OMIM:620221"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070455", source="OMIM:620221"} ! hereditary spastic paraplegia [Term] id: MONDO:0859364 @@ -555474,7 +556021,7 @@ xref: DOID:0070401 {source="MONDO:equivalentTo"} xref: MEDGEN:1840911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620243 {source="MONDO:equivalentTo"} xref: UMLS:C5830275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840911"} -is_a: MONDO:0019046 {source="OMIM:620243"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070401", source="OMIM:620243"} ! leukodystrophy [Term] id: MONDO:0859379 @@ -555569,7 +556116,7 @@ xref: DOID:0081350 {source="MONDO:equivalentTo"} xref: MEDGEN:1840919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620246 {source="MONDO:equivalentTo"} xref: UMLS:C5830283 {source="MEDGEN:1840919", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620246"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081350", source="OMIM:620246"} ! congenital myopathy [Term] id: MONDO:0859515 @@ -555580,7 +556127,7 @@ xref: DOID:0081345 {source="MONDO:equivalentTo"} xref: MEDGEN:762102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620249 {source="MONDO:equivalentTo"} xref: UMLS:C3541476 {source="MEDGEN:762102", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620249"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081345", source="OMIM:620249"} ! congenital myopathy [Term] id: MONDO:0859516 @@ -555599,7 +556146,7 @@ xref: DOID:0081339 {source="MONDO:equivalentTo"} xref: MEDGEN:1840936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620265 {source="MONDO:equivalentTo"} xref: UMLS:C5830300 {source="MEDGEN:1840936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620265"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081339", source="OMIM:620265"} ! congenital myopathy [Term] id: MONDO:0859518 @@ -555610,7 +556157,7 @@ xref: DOID:0070403 {source="MONDO:equivalentTo"} xref: MEDGEN:1840948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620269 {source="MONDO:equivalentTo"} xref: UMLS:C5830312 {source="MEDGEN:1840948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019046 {source="OMIM:620269"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0070403", source="OMIM:620269"} ! leukodystrophy [Term] id: MONDO:0859519 @@ -555656,7 +556203,7 @@ xref: DOID:0081340 {source="MONDO:equivalentTo"} xref: MEDGEN:1840969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620278 {source="MONDO:equivalentTo"} xref: UMLS:C5830333 {source="MEDGEN:1840969", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620278"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081340", source="OMIM:620278"} ! congenital myopathy [Term] id: MONDO:0859524 @@ -555770,7 +556317,7 @@ xref: DOID:0081125 {source="MONDO:equivalentTo"} xref: MEDGEN:1803802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616994 {source="MONDO:equivalentTo"} xref: UMLS:C5676895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1803802"} -is_a: MONDO:0031329 {source="OMIM:616994"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome +is_a: MONDO:0031329 {source="DOID:0081125", source="OMIM:616994"} ! craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome [Term] id: MONDO:0859568 @@ -555781,7 +556328,7 @@ xref: DOID:0070441 {source="MONDO:equivalentTo"} xref: MEDGEN:1823960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619977 {source="MONDO:equivalentTo"} xref: UMLS:C5774187 {source="MEDGEN:1823960", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0031166 {source="OMIM:619977"} ! macular dystrophy, retinal +is_a: MONDO:0031166 {source="DOID:0070441", source="OMIM:619977"} ! macular dystrophy, retinal [Term] id: MONDO:0859569 @@ -555869,7 +556416,7 @@ xref: DOID:0081371 {source="MONDO:equivalentTo"} xref: MEDGEN:1824059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620192 {source="MONDO:equivalentTo"} xref: UMLS:C5774286 {source="MEDGEN:1824059", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007872 {source="OMIM:620192"} ! LADD syndrome +is_a: MONDO:0007872 {source="DOID:0081371", source="OMIM:620192"} ! LADD syndrome [Term] id: MONDO:0859578 @@ -555880,7 +556427,7 @@ xref: DOID:0081372 {source="MONDO:equivalentTo"} xref: MEDGEN:1824060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620193 {source="MONDO:equivalentTo"} xref: UMLS:C5774287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824060"} -is_a: MONDO:0007872 {source="OMIM:620193"} ! LADD syndrome +is_a: MONDO:0007872 {source="DOID:0081372", source="OMIM:620193"} ! LADD syndrome [Term] id: MONDO:0859588 @@ -556545,7 +557092,7 @@ xref: DOID:0060929 {source="MONDO:equivalentTo"} xref: MEDGEN:1840204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301107 {source="MONDO:equivalentTo"} xref: UMLS:C5829568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840204"} -is_a: MONDO:0019181 {source="OMIM:301107"} ! non-syndromic X-linked intellectual disability +is_a: MONDO:0019181 {source="DOID:0060929", source="OMIM:301107"} ! non-syndromic X-linked intellectual disability [Term] id: MONDO:0957204 @@ -556590,7 +557137,7 @@ xref: DOID:0081352 {source="MONDO:equivalentTo"} xref: MEDGEN:1841029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620310 {source="MONDO:equivalentTo"} xref: UMLS:C5830393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841029"} -is_a: MONDO:0019952 {source="OMIM:620310"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081352", source="OMIM:620310"} ! congenital myopathy [Term] id: MONDO:0957216 @@ -556634,7 +557181,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0070454 {source="MONDO:equivalentTo"} xref: OMIM:620323 {source="MONDO:equivalentTo"} -is_a: MONDO:0019064 {source="OMIM:620323"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070454", source="OMIM:620323"} ! hereditary spastic paraplegia [Term] id: MONDO:0957224 @@ -556645,7 +557192,7 @@ xref: DOID:0081353 {source="MONDO:equivalentTo"} xref: MEDGEN:1841060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620326 {source="MONDO:equivalentTo"} xref: UMLS:C5830424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841060"} -is_a: MONDO:0019952 {source="OMIM:620326"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081353", source="OMIM:620326"} ! congenital myopathy [Term] id: MONDO:0957225 @@ -556699,7 +557246,7 @@ xref: DOID:0081449 {source="MONDO:equivalentTo"} xref: MEDGEN:1841082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620342 {source="MONDO:equivalentTo"} xref: UMLS:C5830446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841082"} -is_a: MONDO:0015993 {source="OMIM:620342"} ! cone-rod dystrophy +is_a: MONDO:0015993 {source="DOID:0081449", source="OMIM:620342"} ! cone-rod dystrophy [Term] id: MONDO:0957247 @@ -556710,7 +557257,7 @@ xref: DOID:0081354 {source="MONDO:equivalentTo"} xref: MEDGEN:1841089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620351 {source="MONDO:equivalentTo"} xref: UMLS:C5830453 {source="MONDO:equivalentTo", source="MEDGEN:1841089", source="MONDO:MEDGEN"} -is_a: MONDO:0019952 {source="OMIM:620351"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081354", source="OMIM:620351"} ! congenital myopathy [Term] id: MONDO:0957248 @@ -556724,7 +557271,7 @@ xref: DOID:0070376 {source="MONDO:equivalentTo"} xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620352 {source="MONDO:equivalentTo"} xref: UMLS:C5830459 {source="MEDGEN:1841095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620352"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070376", source="OMIM:620352"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0957249 @@ -556780,7 +557327,7 @@ xref: DOID:0070464 {source="MONDO:equivalentTo"} xref: MEDGEN:1841118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620359 {source="MONDO:equivalentTo"} xref: UMLS:C5830482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841118"} -is_a: MONDO:0014471 {source="OMIM:620359"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0070464", source="OMIM:620359"} ! mitochondrial proton-transporting ATP synthase complex deficiency [Term] id: MONDO:0957260 @@ -556839,7 +557386,7 @@ xref: DOID:0081355 {source="MONDO:equivalentTo"} xref: MEDGEN:1841137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620369 {source="MONDO:equivalentTo"} xref: UMLS:C5830501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841137"} -is_a: MONDO:0019952 {source="OMIM:620369"} ! congenital myopathy +is_a: MONDO:0019952 {source="DOID:0081355", source="OMIM:620369"} ! congenital myopathy [Term] id: MONDO:0957266 @@ -556909,7 +557456,7 @@ xref: DOID:0070458 {source="MONDO:equivalentTo"} xref: MEDGEN:1841167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620379 {source="MONDO:equivalentTo"} xref: UMLS:C5830531 {source="MEDGEN:1841167", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0019064 {source="OMIM:620379"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070458", source="OMIM:620379"} ! hereditary spastic paraplegia [Term] id: MONDO:0957278 @@ -556938,7 +557485,7 @@ xref: DOID:0081374 {source="MONDO:equivalentTo"} xref: MEDGEN:1841181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620386 {source="MONDO:equivalentTo"} xref: UMLS:C5830545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841181"} -is_a: MONDO:0018958 {source="OMIM:620386"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0081374", source="OMIM:620386"} ! nemaline myopathy [Term] id: MONDO:0957284 @@ -556949,7 +557496,7 @@ xref: DOID:0081375 {source="MONDO:equivalentTo"} xref: MEDGEN:1841185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620389 {source="MONDO:equivalentTo"} xref: UMLS:C5830549 {source="MEDGEN:1841185", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018958 {source="OMIM:620389"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0081375", source="OMIM:620389"} ! nemaline myopathy [Term] id: MONDO:0957288 @@ -557007,7 +557554,7 @@ xref: DOID:0070459 {source="MONDO:equivalentTo"} xref: MEDGEN:1841210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620416 {source="MONDO:equivalentTo"} xref: UMLS:C5830574 {source="MONDO:equivalentTo", source="MEDGEN:1841210", source="MONDO:MEDGEN"} -is_a: MONDO:0019064 {source="OMIM:620416"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070459", source="OMIM:620416"} ! hereditary spastic paraplegia [Term] id: MONDO:0957309 @@ -557018,7 +557565,7 @@ xref: DOID:0070460 {source="MONDO:equivalentTo"} xref: MEDGEN:1841214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620417 {source="MONDO:equivalentTo"} xref: UMLS:C5830578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841214"} -is_a: MONDO:0019064 {source="OMIM:620417"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0070460", source="OMIM:620417"} ! hereditary spastic paraplegia [Term] id: MONDO:0957314 @@ -557229,6 +557776,7 @@ xref: MEDGEN:1843010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:481671 {source="MONDO:equivalentTo"} xref: UMLS:C5681250 {source="MEDGEN:1843010", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0019751 {source="PMID:34736626", source="https://orcid.org/0000-0001-7941-2961", source="https://orcid.org/0000-0002-5002-8648"} ! autoinflammatory syndrome +is_a: MONDO:0957018 {source="Orphanet:481671"} ! autoinflammatory syndrome of childhood intersection_of: MONDO:0700264 ! type 1 interferonopathy intersection_of: has_characteristic HP:0011463 ! Childhood onset relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -557251,7 +557799,7 @@ xref: MESH:D001890 {source="MONDO:relatedTo", source="DOID:5154", source="EFO:00 xref: Orphanet:637051 {source="MONDO:equivalentTo"} xref: SCTID:76851008 {source="DOID:5154"} xref: UMLS:C5816783 {source="MEDGEN:1843023", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0006009 {source="https://orcid.org/0000-0001-5208-3432"} ! viral encephalitis +is_a: MONDO:0006009 {source="Orphanet:637051", source="https://orcid.org/0000-0001-5208-3432"} ! viral encephalitis intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0100332 NCBITaxon:12455 ! disease has primary infectious agent Borna disease virus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6842" xsd:string @@ -557278,7 +557826,7 @@ subset: rare xref: MEDGEN:369829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:641368 {source="MONDO:equivalentTo"} xref: UMLS:C1968689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369829"} -is_a: MONDO:0018037 {source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome +is_a: MONDO:0018037 {source="Orphanet:641368", source="https://orcid.org/0000-0001-5208-3432"} ! hyper-IgE syndrome [Term] id: MONDO:0957427 @@ -557385,7 +557933,7 @@ subset: rare xref: MEDGEN:1843415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645340 {source="MONDO:equivalentTo"} xref: UMLS:C5816719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843415"} -is_a: MONDO:0017077 {source="https://orcid.org/0000-0001-5208-3432"} ! myelocystocele +is_a: MONDO:0017077 {source="Orphanet:645340", source="https://orcid.org/0000-0001-5208-3432"} ! myelocystocele relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -557413,7 +557961,7 @@ subset: rare xref: MEDGEN:1843418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645383 {source="MONDO:equivalentTo"} xref: UMLS:C5816713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843418"} -is_a: MONDO:0019773 {source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele +is_a: MONDO:0019773 {source="Orphanet:645383", source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele [Term] id: MONDO:0957454 @@ -557425,7 +557973,7 @@ subset: rare xref: MEDGEN:1843407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645388 {source="MONDO:equivalentTo"} xref: UMLS:C5816710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843407"} -is_a: MONDO:0019773 {source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele +is_a: MONDO:0019773 {source="Orphanet:645388", source="https://orcid.org/0000-0001-5208-3432"} ! myelomeningocele [Term] id: MONDO:0957456 @@ -557436,7 +557984,7 @@ subset: rare xref: MEDGEN:1843411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645613 {source="MONDO:equivalentTo"} xref: UMLS:C5816707 {source="MEDGEN:1843411", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0016367 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis +is_a: MONDO:0016367 {source="Orphanet:645613", source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis [Term] id: MONDO:0957458 @@ -557447,7 +557995,7 @@ subset: rare xref: MEDGEN:1843427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645626 {source="MONDO:equivalentTo"} xref: UMLS:C5816708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843427"} -is_a: MONDO:0016367 {source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis +is_a: MONDO:0016367 {source="Orphanet:645626", source="https://orcid.org/0000-0001-5208-3432"} ! dermatomyositis [Term] id: MONDO:0957459 @@ -557485,7 +558033,7 @@ xref: icd11.foundation:870345553 {source="MONDO:equivalentTo", source="https://o xref: MEDGEN:1843412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645807 {source="MONDO:equivalentTo"} xref: UMLS:C5816704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843412"} -is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis +is_a: MONDO:0018076 {source="Orphanet:645807", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis [Term] id: MONDO:0957462 @@ -557508,7 +558056,7 @@ subset: rare xref: MEDGEN:1843400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645822 {source="MONDO:equivalentTo"} xref: UMLS:C5816705 {source="MEDGEN:1843400", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis +is_a: MONDO:0018076 {source="Orphanet:645822", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis [Term] id: MONDO:0957464 @@ -557534,7 +558082,7 @@ subset: rare xref: MEDGEN:1843417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645854 {source="MONDO:equivalentTo"} xref: UMLS:C5816701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843417"} -is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis +is_a: MONDO:0018076 {source="Orphanet:645854", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis [Term] id: MONDO:0957466 @@ -557547,7 +558095,7 @@ xref: icd11.foundation:1873777499 {source="MONDO:equivalentTo", source="Orphanet xref: MEDGEN:1843420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:645859 {source="MONDO:equivalentTo"} xref: UMLS:C5816702 {source="MEDGEN:1843420", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0018076 {source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis +is_a: MONDO:0018076 {source="Orphanet:645859", source="https://orcid.org/0000-0001-5208-3432"} ! tuberculosis [Term] id: MONDO:0957467 @@ -557719,7 +558267,7 @@ xref: MEDGEN:1841269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620449 {source="MONDO:equivalentTo"} xref: UMLS:C5830633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1841269"} is_a: MONDO:0003847 {source="OMIM:620449", source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0021094 {source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease +is_a: MONDO:0021094 {source="OMIM:620449", source="https://orcid.org/0000-0001-5208-3432"} ! immunodeficiency disease [Term] id: MONDO:0957536 @@ -557844,7 +558392,7 @@ subset: rare xref: MEDGEN:576417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:99126 {source="MONDO:equivalentTo"} xref: UMLS:C0344679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:576417"} -is_a: MONDO:0017864 {source="https://orcid.org/0000-0001-5208-3432"} ! congenital pulmonary veins atresia or stenosis +is_a: MONDO:0017864 {source="Orphanet:99126", source="https://orcid.org/0000-0001-5208-3432"} ! congenital pulmonary veins atresia or stenosis relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql [Term] @@ -558180,7 +558728,7 @@ xref: MEDGEN:1841040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620312 {source="MONDO:equivalentTo"} xref: UMLS:C5830404 {source="MEDGEN:1841040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620312"} ! hereditary disease -is_a: MONDO:0800448 {source="OMIM:620312"} ! leukoencephalopathy with vanishing white matter +is_a: MONDO:0800448 {source="DOID:0070373", source="OMIM:620312"} ! leukoencephalopathy with vanishing white matter [Term] id: MONDO:0957871 @@ -558192,7 +558740,7 @@ xref: MEDGEN:1841041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620313 {source="MONDO:equivalentTo"} xref: UMLS:C5830405 {source="MEDGEN:1841041", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620313"} ! hereditary disease -is_a: MONDO:0800448 {source="OMIM:620313"} ! leukoencephalopathy with vanishing white matter +is_a: MONDO:0800448 {source="DOID:0070372", source="OMIM:620313"} ! leukoencephalopathy with vanishing white matter [Term] id: MONDO:0957872 @@ -558204,7 +558752,7 @@ xref: MEDGEN:1841042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620314 {source="MONDO:equivalentTo"} xref: UMLS:C5830406 {source="MEDGEN:1841042", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620314"} ! hereditary disease -is_a: MONDO:0800448 {source="OMIM:620314"} ! leukoencephalopathy with vanishing white matter +is_a: MONDO:0800448 {source="DOID:0070371", source="OMIM:620314"} ! leukoencephalopathy with vanishing white matter [Term] id: MONDO:0957873 @@ -558216,7 +558764,7 @@ xref: MEDGEN:1830483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620315 {source="MONDO:equivalentTo"} xref: UMLS:C5779973 {source="MEDGEN:1830483", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="OMIM:620315"} ! hereditary disease -is_a: MONDO:0800448 {source="OMIM:620315"} ! leukoencephalopathy with vanishing white matter +is_a: MONDO:0800448 {source="DOID:0070367", source="OMIM:620315"} ! leukoencephalopathy with vanishing white matter [Term] id: MONDO:0957874 @@ -558226,7 +558774,7 @@ subset: rare xref: DOID:0081428 {source="MONDO:equivalentTo"} xref: OMIM:620402 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620402"} ! hereditary disease -is_a: MONDO:0015363 {source="OMIM:620402"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0081428", source="OMIM:620402"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0957875 @@ -558236,7 +558784,7 @@ subset: rare xref: DOID:0081400 {source="MONDO:equivalentTo"} xref: OMIM:620528 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620528"} ! hereditary disease -is_a: MONDO:0015362 {source="OMIM:620528"} ! neuronopathy, distal hereditary motor, autosomal dominant +is_a: MONDO:0015362 {source="DOID:0081400", source="OMIM:620528"} ! neuronopathy, distal hereditary motor, autosomal dominant [Term] id: MONDO:0957876 @@ -558246,7 +558794,7 @@ subset: rare xref: DOID:0081429 {source="MONDO:equivalentTo"} xref: OMIM:620542 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620542"} ! hereditary disease -is_a: MONDO:0015363 {source="OMIM:620542"} ! neuronopathy, distal hereditary motor, autosomal recessive +is_a: MONDO:0015363 {source="DOID:0081429", source="OMIM:620542"} ! neuronopathy, distal hereditary motor, autosomal recessive [Term] id: MONDO:0957896 @@ -558286,7 +558834,7 @@ subset: rare xref: DOID:0060970 {source="MONDO:equivalentTo"} xref: OMIM:620568 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620568"} ! hereditary disease -is_a: MONDO:0016033 {source="OMIM:620568"} ! Cornelia de Lange syndrome +is_a: MONDO:0016033 {source="DOID:0060970", source="OMIM:620568"} ! Cornelia de Lange syndrome [Term] id: MONDO:0957922 @@ -558305,7 +558853,7 @@ subset: rare xref: DOID:0060928 {source="MONDO:equivalentTo"} xref: OMIM:620576 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:620576"} ! hereditary disease -is_a: MONDO:0005349 {source="OMIM:620576"} ! otosclerosis +is_a: MONDO:0005349 {source="DOID:0060928", source="OMIM:620576"} ! otosclerosis [Term] id: MONDO:0957935 @@ -559066,7 +559614,7 @@ xref: DOID:0070363 {source="MONDO:equivalentTo"} xref: MEDGEN:1840510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608415 {source="MONDO:equivalentTo"} xref: UMLS:C5829874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1840510"} -is_a: MONDO:0012033 {source="OMIM:608415"} ! bradyopsia +is_a: MONDO:0012033 {source="DOID:0070363", source="OMIM:608415"} ! bradyopsia [Term] id: MONDO:0958181 @@ -559101,7 +559649,7 @@ subset: rare xref: DOID:0081359 {source="MONDO:equivalentTo"} xref: MEDGEN:1831005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C5781877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1831005"} -is_a: MONDO:0007239 {source="OMIM:620150"} ! epidermolytic ichthyosis +is_a: MONDO:0007239 {source="DOID:0081359", source="OMIM:620150"} ! epidermolytic ichthyosis intersection_of: MONDO:0007239 ! epidermolytic ichthyosis intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6413 ! KRT10 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7238" xsd:anyURI @@ -559153,7 +559701,7 @@ xref: DOID:0070366 {source="MONDO:equivalentTo"} xref: MEDGEN:1841087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620343 {source="MONDO:equivalentTo"} xref: UMLS:C5830451 {source="MEDGEN:1841087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0007187 {source="OMIM:620343"} ! nevoid basal cell carcinoma syndrome +is_a: MONDO:0007187 {source="DOID:0070366", source="OMIM:620343"} ! nevoid basal cell carcinoma syndrome [Term] id: MONDO:0958190 @@ -559164,7 +559712,7 @@ xref: DOID:0070364 {source="MONDO:equivalentTo"} xref: MEDGEN:1841088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620344 {source="MONDO:equivalentTo"} xref: UMLS:C5830452 {source="MEDGEN:1841088", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0012033 {source="OMIM:620344"} ! bradyopsia +is_a: MONDO:0012033 {source="DOID:0070364", source="OMIM:620344"} ! bradyopsia [Term] id: MONDO:0958191 @@ -559331,7 +559879,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0060962 {source="MONDO:equivalentTo"} xref: OMIM:620718 {source="MONDO:equivalentTo"} -is_a: MONDO:0015375 {source="OMIM:620718", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DOID:0060962", source="OMIM:620718", source="https://orcid.org/0000-0002-4142-7153"} ! orofaciodigital syndrome [Term] id: MONDO:0958231 @@ -559371,7 +559919,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0060942 {source="MONDO:equivalentTo"} xref: OMIM:620727 {source="MONDO:equivalentTo"} -is_a: MONDO:0000355 {source="OMIM:620727", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy +is_a: MONDO:0000355 {source="DOID:0060942", source="OMIM:620727", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy [Term] id: MONDO:0958236 @@ -559380,7 +559928,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0060943 {source="MONDO:equivalentTo"} xref: OMIM:620728 {source="MONDO:equivalentTo"} -is_a: MONDO:0000355 {source="OMIM:620728", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy +is_a: MONDO:0000355 {source="DOID:0060943", source="OMIM:620728", source="https://orcid.org/0000-0002-4142-7153"} ! Ullrich congenital muscular dystrophy [Term] id: MONDO:0958237 @@ -559793,7 +560341,7 @@ name: pulmonary hypertension, primary, 6 subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620777 {source="MONDO:equivalentTo"} -is_a: MONDO:0017148 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620777"} ! heritable pulmonary arterial hypertension +is_a: MONDO:0017148 {source="OMIM:620777", source="https://orcid.org/0000-0002-4142-7153|OMIM:620777"} ! heritable pulmonary arterial hypertension [Term] id: MONDO:0958335 @@ -559980,7 +560528,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare xref: DOID:0060947 {source="MONDO:equivalentTo"} xref: OMIM:620779 {source="MONDO:equivalentTo"} -is_a: MONDO:0019502 {source="OMIM:620779"} ! autosomal recessive non-syndromic intellectual disability +is_a: MONDO:0019502 {source="DOID:0060947", source="OMIM:620779"} ! autosomal recessive non-syndromic intellectual disability [Term] id: MONDO:0968945 @@ -559994,7 +560542,7 @@ name: developmental and epileptic encephalopathy 115 subset: gard_rare {source="MONDO:GARD"} subset: rare xref: OMIM:620783 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="https://orcid.org/0000-0002-4142-7153|OMIM:620783"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="OMIM:620783", source="https://orcid.org/0000-0002-4142-7153|OMIM:620783"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0968947 @@ -560197,7 +560745,7 @@ subset: inferred_rare subset: rare xref: DOID:0070545 {source="MONDO:equivalentTo"} xref: OMIM:620806 {source="MONDO:equivalentTo"} -is_a: MONDO:0100062 {source="OMIM:620806", source="https://orcid.org/0000-0002-4142-7153"} ! developmental and epileptic encephalopathy +is_a: MONDO:0100062 {source="DOID:0070545", source="OMIM:620806", source="https://orcid.org/0000-0002-4142-7153"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0970950 @@ -582983,7 +583531,7 @@ xref: OMIM:243180 {source="MONDO:equivalentTo"} xref: Orphanet:2978 {source="OMIM:243180"} xref: Orphanet:99811 {source="MONDO:equivalentTo"} xref: UMLS:C1855733 {source="MEDGEN:340946", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0000858 {source="DC-OMIM:243180"} ! neuronal intestinal dysplasia +is_a: MONDO:0000858 {source="DC-OMIM:243180", source="DOID:0080679"} ! neuronal intestinal dysplasia is_a: MONDO:0017574 {source="Orphanet:99811"} ! chronic intestinal pseudoobstruction is_a: MONDO:0023961 {source="OMIM:243180"} ! visceral neuropathy, familial relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -583161,7 +583709,7 @@ xref: GARD:15987 {source="MONDO:GARD"} xref: MEDGEN:816258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615559 {source="DOID:0110119", source="MONDO:equivalentTo"} xref: UMLS:C3809928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:816258"} -is_a: MONDO:0017979 {source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome +is_a: MONDO:0017979 {source="DOID:0110119", source="OMIM:615559"} ! autoimmune lymphoproliferative syndrome intersection_of: MONDO:0017979 ! autoimmune lymphoproliferative syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9399 ! PRKCD property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4098" xsd:anyURI diff --git a/src/ontology/mondo.Makefile b/src/ontology/mondo.Makefile index 4f3123d3ad..de6dbf71ce 100644 --- a/src/ontology/mondo.Makefile +++ b/src/ontology/mondo.Makefile @@ -979,9 +979,16 @@ all: config/exclusion_reasons.tsv ################################## ##### Scheduled GH Actions ####### ################################## + +$(TMPDIR)/subclass-confirmed.robot.tsv: + wget "https://raw.githubusercontent.com/monarch-initiative/mondo-ingest/main/src/ontology/reports/sync-subClassOf.confirmed.tsv" -O $@ + $(TMPDIR)/new-exact-matches-%.tsv: wget "https://raw.githubusercontent.com/monarch-initiative/mondo-ingest/main/src/ontology/lexmatch/unmapped_$*_lex_exact.tsv" -O $@ +$(TMPDIR)/%.robot.owl: $(TMPDIR)/%.robot.tsv + $(ROBOT) --prefix "sssom: https://w3id.org/sssom/" template --template $< -o $@ + $(TMPDIR)/new-exact-matches-%.owl: $(TMPDIR)/new-exact-matches-%.tsv $(ROBOT) --prefix "sssom: https://w3id.org/sssom/" template --template $< -o $@ @@ -992,6 +999,25 @@ update-%-mappings: $(TMPDIR)/new-exact-matches-%.owl make NORM mv NORM $(SRC) +tmp/subclass-axioms.owl: $(SRC) + $(ROBOT) filter --input $(SRC) --axioms SubClassOf --preserve-structure false --trim false \ + --drop-axiom-annotations "oboInOwl:source=~'(DOID|ICD10CM|icd11.foundation|NCIT|OMIM|OMIMPS|Orphanet):.*'" \ + -o $@ + +# This command updates mondo-edit with all the confirmed subclass evidence from the mondo-ingest repo +.PHONY: update-subclass-sync +update-subclass-sync: $(TMPDIR)/subclass-confirmed.robot.owl tmp/subclass-axioms.owl + $(ROBOT) remove --input $(SRC) \ + --select "self parents" \ + --axioms SubClassOf \ + --trim false \ + merge -i $< -i tmp/subclass-axioms.owl --collapse-import-closure false \ + convert -f obo --check false -o tmp/$(SRC) + mv tmp/$(SRC) $(SRC) + make NORM + mv NORM $(SRC) + + .PHONY: help help: @echo "$$data"