diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index d3b32186fd..ef4cf74a6a 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -3910,6 +3910,8 @@ relationship: disease_has_infectious_agent NCBITaxon:10372 {source="NCIT:C128420 [Term] id: MONDO:0000338 name: variola major infectious disease +subset: inferred_rare +subset: rare synonym: "variola major" BROAD [] xref: DOID:0050508 {source="MONDO:equivalentTo"} xref: ICD9:050.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:0050508"} @@ -5135,6 +5137,7 @@ replaced_by: MONDO:0018151 [Term] id: MONDO:0000424 name: obsolete inborn vitamin B12 deficiency +subset: gard_rare {source="MONDO:GARD"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7353" xsd:anyURI is_obsolete: true @@ -5665,6 +5668,7 @@ name: cerebral creatine deficiency syndrome def: "Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency." [Orphanet:79172] subset: disease_grouping subset: gard_rare {source="GARD:18952", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:79172"} subset: otar {source="MONDO:OTAR"} subset: rare @@ -83855,6 +83859,8 @@ relationship: disease_has_feature HP:0002094 ! Dyspnea id: MONDO:0004550 name: malignant cornea melanoma def: "A melanoma within the cornea of the eye." [NCIT:P378] +subset: inferred_rare +subset: rare synonym: "cornea melanoma" EXACT [NCIT:C4553] synonym: "cornea melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "corneal melanoma" EXACT [NCIT:C4553] @@ -84061,6 +84067,8 @@ is_a: MONDO:0003413 {source="DOID:8426", source="NCIT:C4469/inferred"} ! hair fo id: MONDO:0004561 name: retinal melanoma def: "A melanoma affecting the retinal portion of the eye. --2003" [NCIT:C8601] +subset: inferred_rare +subset: rare synonym: "malignant melanoma of retina" EXACT [NCIT:C8601] synonym: "malignant melanoma of the retina" EXACT [NCIT:C8601] synonym: "malignant retinal melanoma" EXACT [DOID:8427, NCIT:C8601] @@ -84576,6 +84584,7 @@ intersection_of: disease_arises_from_feature MONDO:0008383 ! rheumatoid arthriti [Term] id: MONDO:0004587 name: obsolete hereditary night blindness +subset: otar {source="MONDO:OTAR"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7213" xsd:anyURI is_obsolete: true @@ -86276,7 +86285,9 @@ relationship: excluded_subClassOf MONDO:0002095 {source="DOID:8731", source="htt id: MONDO:0004651 name: smallpox def: "A condition that is caused by infection with Variola, and that is characterized by small, raised bumps." [NCIT:P378] +subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "ordinary smallpox" EXACT [DOID:8736] synonym: "smallpox virus infection" RELATED [NCIT:C96527] synonym: "Variola" RELATED [GARD:0007444] @@ -87355,7 +87366,9 @@ intersection_of: MONDO:0005096 {source="NCIT:C27093"} ! squamous cell carcinoma id: MONDO:0004694 name: hepatopulmonary syndrome def: "Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases." [https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome] +subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} +subset: rare xref: DOID:900 {source="MONDO:equivalentTo"} xref: EFO:1001346 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K76.81 {source="DOID:900", source="MONDO:equivalentTo"} @@ -88009,6 +88022,8 @@ intersection_of: disease_has_location UBERON:0003216 ! hard palate id: MONDO:0004720 name: variola minor infection def: "A orthopoxvirus that causes a milder clinical syndrome than smallpox." [NCIT:P378] +subset: inferred_rare +subset: rare synonym: "alastrim" EXACT [DOID:9153] synonym: "cottonpox" EXACT [DOID:9153] synonym: "milkpox" EXACT [DOID:9153] @@ -125134,7 +125149,9 @@ is_a: MONDO:0006116 {source="NCIT:C53557"} ! breast carcinoma by gene expression id: MONDO:0006325 name: ocular melanoma def: "A melanoma that arises from the structures of the eye or ocular adnexa." [NCIT:C8562] +subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "eye melanoma" EXACT [DOID:1752, NCIT:C8562] synonym: "eye melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "eyeball of camera-type eye melanoma" EXACT [] @@ -125161,6 +125178,8 @@ relationship: excluded_subClassOf MONDO:0006320 {source="NCIT:C8562", source="ht id: MONDO:0006326 name: ocular melanoma with extraocular extension def: "A melanoma arising from and extending beyond the structures of the eye." [NCIT:C7913] +subset: inferred_rare +subset: rare synonym: "extraocular extension melanoma" EXACT [NCIT:C7913] synonym: "extraocular extension of melanoma" EXACT [NCIT:C7913] synonym: "ocular melanoma with extraocular extension" EXACT [NCIT:C7913] @@ -147011,7 +147030,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007299 name: obsolete Sotos syndrome 1 -xref: GARD:15048 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6321" xsd:anyURI is_obsolete: true @@ -151164,7 +151182,6 @@ subset: ordo_disorder {source="Orphanet:99177"} subset: ordo_morphological_anomaly {source="Orphanet:99177"} synonym: "distichiasis" RELATED [OMIM:126300] synonym: "eyelashes, two rows of" RELATED [OMIM:126300] -xref: GARD:16899 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10.3 {source="Orphanet:99177/attributed", source="Orphanet:99177/ntbt", source="Orphanet:99177"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:126300 {source="Orphanet:99177/e", source="MONDO:obsoleteEquivalent", source="Orphanet:99177"} @@ -151921,7 +151938,6 @@ name: dystonia 5 def: "An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:9817", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1702"} -subset: orphanet_rare {source="Orphanet:98808"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dopa-responsive dystonia, autosomal dominant" EXACT [OMIM:128230] @@ -151936,6 +151952,7 @@ synonym: "dystonia, progressive, with diurnal variation" EXACT [OMIM:128230] synonym: "dystonia-Parkinsonism with diurnal fluctuation" EXACT [OMIM:128230] synonym: "DYT-GCH1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] +synonym: "Segawa Syndrome" EXACT [NORD:1702] synonym: "Segawa syndrome, autosomal dominant" EXACT [OMIM:128230] xref: DOID:0060963 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:0090043 {source="MONDO:equivalentTo"} @@ -154618,7 +154635,6 @@ name: obsolete Birt-Hogg-Dube syndrome subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "Birt-Hogg-Dubé Syndrome" EXACT [NORD:858] -xref: GARD:2322 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0007607 {source="MONDO:CLINGEN"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6518" xsd:anyURI @@ -159295,7 +159311,6 @@ synonym: "mild hypophosphatasia" RELATED [DOID:0110913] synonym: "obsolete adult hypophosphatasia" EXACT CLINGEN_LABEL [] synonym: "odontohypophosphatasia" RELATED [OMIM:146300] xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"} -xref: GARD:17193 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"} xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"} xref: Orphanet:247676 {source="MONDO:obsoleteEquivalent", source="OMIM:146300", source="DOID:0110913"} @@ -160519,7 +160534,6 @@ id: MONDO:0007851 name: keratoconus 1 def: "Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus (disease) caused by mutation in VSX1" EXACT [] synonym: "keratoconus 1" EXACT [MONDO:Lexical, OMIM:148300] @@ -172893,7 +172907,6 @@ synonym: "crowded optic disk" RELATED [] synonym: "obsolete pseudopapilledema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pseudopapilledema" EXACT [MONDO:ambiguous, OMIM:177800] xref: DOID:1392 {source="MONDO:obsoleteEquivalent"} -xref: GARD:22114 {source="MONDO:obsoleteEquivalent"} xref: ICD9:377.24 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1392"} xref: MESH:C562401 {source="MONDO:obsoleteEquivalent", source="DOID:1392"} xref: OMIM:177800 {source="MONDO:obsoleteEquivalent", source="DOID:1392"} @@ -173297,7 +173310,6 @@ synonym: "IFPAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600] synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600] -xref: GARD:16531 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.0 {source="Orphanet:422", source="Orphanet:422/e", source="Orphanet:422/specific"} xref: Orphanet:422 {source="MONDO:obsoleteEquivalent", source="OMIM:178600"} relationship: excluded_subClassOf MONDO:0015510 {source="Orphanet:422", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic respiratory disease @@ -174618,7 +174630,6 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98855"} subset: otar {source="MONDO:OTAR"} synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855] synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:16866 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.0 {source="Orphanet:98855/attributed", source="Orphanet:98855/ntbt", source="Orphanet:98855"} xref: MESH:D020389 {source="Orphanet:98855", source="Orphanet:98855/e"} xref: Orphanet:98855 {source="MONDO:obsoleteEquivalent"} @@ -175677,7 +175688,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008448 name: obsolete spheroid body myopathy -xref: GARD:8711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6203" xsd:string is_obsolete: true @@ -202334,7 +202344,6 @@ synonym: "infantile Rathburn disease" EXACT [Orphanet:247651] synonym: "obsolete infantile hypophosphatasia" EXACT CLINGEN_LABEL [] synonym: "phosphoethanolaminuria" RELATED EXCLUDE [DOID:0110914] xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"} -xref: GARD:17192 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"} xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"} xref: Orphanet:247623 {source="OMIM:241500"} @@ -202364,7 +202373,6 @@ synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510] synonym: "obsolete childhood hypophosphatasia" EXACT CLINGEN_LABEL [] synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"} -xref: GARD:8735 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247667/attributed", source="Orphanet:247667/ntbt", source="MONDO:relatedTo", source="Orphanet:247667"} xref: MESH:C562440 {source="MONDO:obsoleteEquivalent"} xref: OMIM:241510 {source="MONDO:obsoleteEquivalent", source="Orphanet:247667", source="DOID:0110915", source="Orphanet:247667/e"} @@ -214069,7 +214077,6 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009827 name: obsolete pachyonychia congenita, autosomal recessive synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130] -xref: GARD:15219 {source="MONDO:obsoleteEquivalent"} xref: MESH:C538094 {source="MONDO:obsoleteEquivalent"} xref: OMIM:260130 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -217124,7 +217131,6 @@ synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140] synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous] synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary AV fistula" EXACT [NCIT:C99029] -xref: GARD:4584 {source="MONDO:obsoleteEquivalent"} xref: HP:0006548 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.7 {source="Orphanet:2038/ntbt", source="Orphanet:2038"} xref: icd11.foundation:913404991 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="https://orcid.org/0000-0002-4142-7153"} @@ -218905,7 +218911,6 @@ id: MONDO:0009995 name: obsolete rheumatic fever-related antigen synonym: "rheumatic fever, acute, susceptibility to" RELATED [OMIM:268240] synonym: "rheumatic fever-related antigen" EXACT [OMIM:268240] -xref: GARD:15232 {source="MONDO:obsoleteEquivalent"} xref: OMIM:268240 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"} is_obsolete: true @@ -218941,7 +218946,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009997 name: obsolete Roberts syndrome subset: otar {source="MONDO:OTAR"} -xref: GARD:7387 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4901" xsd:anyURI is_obsolete: true @@ -222423,7 +222427,6 @@ subset: ordo_disorder {source="Orphanet:2951"} subset: ordo_malformation_syndrome {source="Orphanet:2951"} subset: otar {source="MONDO:OTAR"} synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] -xref: GARD:16615 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"} xref: MESH:C564770 {source="MONDO:obsoleteEquivalent"} xref: OMIM:274190 {source="MONDO:obsoleteEquivalent", source="Orphanet:2951", source="Orphanet:2951/e"} @@ -224830,7 +224833,6 @@ id: MONDO:0010204 name: obsolete lysosomal acid lipase deficiency subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -xref: GARD:12097 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010204 {source="MONDO:CLINGEN"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6379" xsd:anyURI @@ -228489,7 +228491,6 @@ comment: Reason: out of scope. Requested by ClinGen retinal experts to obsolete subset: ordo_disorder {source="Orphanet:247522"} synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455] xref: DOID:0112124 {source="MONDO:obsoleteEquivalent"} -xref: GARD:17190 {source="MONDO:obsoleteEquivalent"} xref: MESH:C567595 {source="MONDO:obsoleteEquivalent"} xref: OMIM:300455 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent", source="Orphanet:247522/e"} xref: Orphanet:247522 {source="MONDO:obsoleteEquivalent", source="OMIM:300455"} @@ -235744,7 +235745,6 @@ name: obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance comment: The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." synonym: "diabetes insipidus, neurohypophyseal type" EXACT [OMIM:304900] xref: DOID:0081059 {source="MONDO:obsoleteEquivalent"} -xref: GARD:18603 {source="MONDO:obsoleteEquivalent"} xref: OMIM:304900 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:178029 {source="OMIM:304900"} xref: Orphanet:30925 {source="OMIM:304900"} @@ -249225,6 +249225,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011089 name: patent ductus venosus def: "Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation." [PMID:36329968] +subset: inferred_rare +subset: rare synonym: "patent ductus venosus" EXACT [MONDO:Lexical, OMIM:601466] synonym: "PDV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601466] synonym: "portosystemic Venous shunt, congenital" RELATED [OMIM:601466] @@ -256223,7 +256225,6 @@ replaced_by: MONDO:0008073 [Term] id: MONDO:0011380 name: obsolete leukoencephalopathy with vanishing white matter -xref: GARD:231 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1200951 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200838 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} property_value: IAO:0000231 MONDO:TermsMerged @@ -258588,7 +258589,6 @@ id: MONDO:0011469 name: obsolete congenital amegakaryocytic thrombocytopenia subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -xref: GARD:640 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2200651 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011469 {source="MONDO:CLINGEN"} property_value: IAO:0000231 IAO:0000229 @@ -259357,7 +259357,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011499 name: obsolete Okamoto syndrome subset: otar {source="MONDO:OTAR"} -xref: GARD:4064 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6335" xsd:anyURI is_obsolete: true @@ -266678,7 +266677,6 @@ name: obsolete Dravet syndrome def: "OBSOLETE. Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment." [Orphanet:33069] comment: This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 subset: ordo_disorder {source="Orphanet:33069"} -xref: GARD:10430 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G40.4 {source="Orphanet:33069/attributed", source="Orphanet:33069/ntbt", source="Orphanet:33069"} xref: Orphanet:33069 {source="MONDO:obsoleteEquivalent", source="OMIM:607208"} is_obsolete: true @@ -268697,7 +268695,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011876 name: obsolete juvenile absence epilepsy subset: otar {source="MONDO:OTAR"} -xref: GARD:2162 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI is_obsolete: true @@ -270541,7 +270538,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4978/spondyl [Term] id: MONDO:0011940 name: obsolete Mycobacterium tuberculosis, susceptibility to -xref: GARD:2456 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7616" xsd:anyURI is_obsolete: true @@ -272474,7 +272470,6 @@ replaced_by: MONDO:0020783 [Term] id: MONDO:0012018 name: obsolete myopathy, myosin storage, autosomal dominant -xref: GARD:15429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6045" xsd:anyURI is_obsolete: true @@ -277689,7 +277684,6 @@ synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265] synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern] synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265] xref: DOID:0111504 {source="MONDO:obsoleteEquivalent"} -xref: GARD:16263 {source="MONDO:obsoleteEquivalent"} xref: MESH:C563755 {source="MONDO:obsoleteEquivalent"} xref: OMIM:609265 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:524 {source="OMIM:609265"} @@ -309850,7 +309844,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/11008/nestor id: MONDO:0013524 name: obsolete bleeding diathesis due to thromboxane synthesis deficiency subset: otar {source="MONDO:OTAR"} -xref: GARD:17132 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000229 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6419#issuecomment-1615253065" xsd:anyURI is_obsolete: true @@ -315114,7 +315107,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418] synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418] -xref: GARD:17011 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -317387,7 +317379,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013830 name: keratoconus 5 subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus 5" EXACT [MONDO:Lexical, OMIM:614622] synonym: "KTCN5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614622] @@ -317401,7 +317392,6 @@ is_a: MONDO:0015486 {source="DC-OMIM:614622", source="OMIM:614622"} ! keratoconu id: MONDO:0013831 name: keratoconus 6 subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus 6" EXACT [MONDO:Lexical, OMIM:614623] synonym: "KTCN6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614623] @@ -317415,7 +317405,6 @@ is_a: MONDO:0015486 {source="DC-OMIM:614623", source="OMIM:614623"} ! keratoconu id: MONDO:0013832 name: keratoconus 8 subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus 8" EXACT [MONDO:Lexical, OMIM:614628] synonym: "KTCN8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614628] @@ -317429,7 +317418,6 @@ is_a: MONDO:0015486 {source="DC-OMIM:614628", source="OMIM:614628"} ! keratoconu id: MONDO:0013833 name: keratoconus 7 subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus 7" EXACT [MONDO:Lexical, OMIM:614629] synonym: "KTCN7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614629] @@ -328528,6 +328516,7 @@ name: combined oxidative phosphorylation deficiency 19 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18466", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:397593"} +subset: orphanet_rare {source="Orphanet:397593"} subset: rare synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595] synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern] @@ -330699,8 +330688,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014355 name: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis -subset: gard_rare {source="GARD:21950", source="GARD:16014", source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} +subset: gard_rare {source="GARD:16014", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:476096"} subset: orphanet_rare {source="Orphanet:476096"} subset: rare @@ -330711,14 +330699,11 @@ synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesi synonym: "EKC syndrome" EXACT [Orphanet:476096] synonym: "erythrokeratodermia-cardiomyopathy syndrome" EXACT [MONDO:0018774] xref: GARD:16014 {source="MONDO:GARD"} -xref: GARD:21950 {source="MONDO:GARD"} -xref: MEDGEN:1799559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MEDGEN:862830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615821 {source="MONDO:equivalentTo"} xref: Orphanet:476096 {source="MONDO:equivalentTo"} xref: Orphanet:65282 {source="OMIM:615821"} xref: UMLS:C4014393 {source="MONDO:equivalentTo", source="MEDGEN:862830", source="MONDO:MEDGEN"} -xref: UMLS:C5568136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1799559"} is_a: MONDO:0011581 {source="Orphanet:65282/btnt"} ! arrhythmogenic cardiomyopathy with wooly hair and keratoderma is_a: MONDO:0019270 {source="Orphanet:476096"} ! erythrokeratoderma relationship: disease_has_major_feature HP:0001644 {source="Orphanet:476096"} ! Dilated cardiomyopathy @@ -332539,7 +332524,6 @@ subset: ordo_biological_anomaly {source="Orphanet:168612"} subset: ordo_disorder {source="Orphanet:168612"} synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615969] synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969] -xref: GARD:17040 {source="MONDO:obsoleteEquivalent"} xref: MESH:C566300 {source="MONDO:obsoleteEquivalent"} xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612", source="Orphanet:168612/e"} xref: Orphanet:168612 {source="MONDO:obsoleteEquivalent", source="OMIM:615969"} @@ -332557,7 +332541,6 @@ subset: ordo_disorder {source="Orphanet:168615"} synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970] synonym: "hereditary persistence of alpha-fetoprotein" EXACT [OMIM:615970, OMIM:genemap2] synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615970] -xref: GARD:18647 {source="MONDO:obsoleteEquivalent"} xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="Orphanet:168615/e"} xref: Orphanet:168615 {source="MONDO:obsoleteEquivalent", source="OMIM:615970"} xref: SCTID:716697002 {source="MONDO:obsoleteEquivalent"} @@ -337011,7 +336994,6 @@ id: MONDO:0014597 name: immunodeficiency 39 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:574918"} subset: orphanet_rare {source="Orphanet:574918"} subset: rare @@ -337023,13 +337005,11 @@ synonym: "predisposition to severe viral infection due to IRF7 deficiency" EXACT synonym: "primary immunodeficiency disease caused by mutation in IRF7" EXACT [MONDO:design_pattern] xref: DOID:0111969 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574918"} -xref: MEDGEN:1830120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MEDGEN:904167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616345 {source="MONDO:equivalentTo"} xref: Orphanet:574918 {source="MONDO:equivalentTo"} xref: SCTID:1269234000 {source="MONDO:equivalentTo"} xref: UMLS:C4225358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904167"} -xref: UMLS:C5681719 {source="MEDGEN:1830120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} 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 @@ -337049,6 +337029,7 @@ synonym: "DEE31A" EXACT [OMIM:616346] synonym: "developmental and epileptic encephalopathy 31" BROAD [OMIM:616346, OMIM:genemap2] synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] +synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" EXACT [] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern] synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616346] @@ -339809,7 +339790,6 @@ synonym: "Heimler syndrome type 2" EXACT [MONDORULE:1, OMIM:616617] synonym: "HMLR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616617] synonym: "peroxisome biogenesis disorder 4C" RELATED [OMIM:616617] xref: DOID:0080624 {source="MONDO:obsoleteEquivalent"} -xref: GARD:16144 {source="MONDO:obsoleteEquivalent"} xref: OMIM:616617 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3222" xsd:anyURI @@ -340976,7 +340956,6 @@ subset: ordo_disorder {source="Orphanet:98676"} subset: otar {source="MONDO:OTAR"} synonym: "autosomal recessive isolated optic atrophy" NARROW [Orphanet:98676] synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [Orphanet:98676] -xref: GARD:16860 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H47.2 {source="Orphanet:98676/attributed", source="Orphanet:98676/ntbt", source="Orphanet:98676"} xref: Orphanet:98676 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -345553,7 +345532,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014948 name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay subset: ordo_disorder {source="Orphanet:659702"} +subset: orphanet_rare {source="Orphanet:659702"} subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" EXACT CLINGEN_LABEL [OMIM:617164] synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD" EXACT [] synonym: "SRMMD" EXACT ABBREVIATION [OMIM:617164] @@ -347736,7 +347717,6 @@ def: "OBSOLETE. Primary interstitial lung disease specific to childhood due to p comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary interstitial lung disease specific to childhood' subset: ordo_group_of_disorders {source="Orphanet:100049"} synonym: "primary ILD specific to childhood due to pulmonary surfactant protein anomalies" EXACT [Orphanet:100049] -xref: GARD:19746 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:100049 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -348374,7 +348354,6 @@ def: "OBSOLETE. Any of the forms of tumor of parathyroid gland that have a rare subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:100090"} synonym: "rare tumor of parathyroid gland" EXACT [MONDO:patterns/rare] -xref: GARD:19764 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C75.0 {source="Orphanet:100090", source="Orphanet:100090/btnt"} xref: ICD10CM:D35.1 {source="MONDO:relatedTo", source="Orphanet:100090", source="Orphanet:100090/btnt"} xref: ICD10CM:D44.2 {source="Orphanet:100090", source="Orphanet:100090/btnt"} @@ -348425,7 +348404,6 @@ id: MONDO:0015081 name: obsolete neuroendocrine tumor with other location comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. subset: ordo_group_of_disorders {source="Orphanet:100101"} -xref: GARD:19768 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:100101 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -348558,7 +348536,6 @@ synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980] synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [Orphanet:100980] synonym: "autosomal dominant uncomplicated SPG" EXACT [Orphanet:100980] synonym: "pure hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:19771 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:100980/attributed", source="Orphanet:100980/ntbt", source="Orphanet:100980"} xref: Orphanet:100980 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -348580,7 +348557,6 @@ synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981] synonym: "autosomal recessive complicated spastic paraplegia" EXACT [Orphanet:100981] synonym: "autosomal recessive complicated SPG" EXACT [Orphanet:100981] synonym: "complex hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:19772 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:100981", source="Orphanet:100981/attributed", source="Orphanet:100981/ntbt"} xref: Orphanet:100981 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -348602,7 +348578,6 @@ synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982] synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [Orphanet:100982] synonym: "autosomal recessive uncomplicated SPG" EXACT [Orphanet:100982] synonym: "pure hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:19773 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:100982/attributed", source="Orphanet:100982/ntbt", source="Orphanet:100982"} xref: Orphanet:100982 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -348863,7 +348838,6 @@ id: MONDO:0015106 name: obsolete rare urogenital disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101433"} -xref: GARD:22532 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101433 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348877,7 +348851,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101435"} synonym: "rare genetic eye disease" EXACT [] synonym: "rare genetic ophthalmologic disease" EXACT [Orphanet:101435] -xref: GARD:19782 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101435 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348892,7 +348865,6 @@ synonym: "rare intellectual disability without developmental anomaly" RELATED [G synonym: "rare non-syndromic intellectual deficiency" RELATED [GARD:0012633] synonym: "rare non-syndromic intellectual disability" EXACT [MONDO:patterns/rare] synonym: "rare NSID" EXACT [Orphanet:101685] -xref: GARD:19783 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101685 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348923,7 +348895,6 @@ def: "OBSOLETE. An instance of cardiac rhythm disease that is caused by a modifi subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101934"} synonym: "genetic cardiac rhythm disease" EXACT [MONDO:patterns/genetic] -xref: GARD:19785 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101934 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticFormOfDisease", source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -348935,7 +348906,6 @@ id: MONDO:0015111 name: obsolete gastroesophageal disease subset: ordo_group_of_disorders {source="Orphanet:101936"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19786 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101936 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -348950,7 +348920,6 @@ def: "OBSOLETE. Any of the forms of pancreas disease that have a rare incidence. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101937"} synonym: "rare pancreas disease" EXACT [MONDO:patterns/rare] -xref: GARD:19787 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101937 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348961,7 +348930,6 @@ id: MONDO:0015113 name: obsolete rare vascular liver disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101938"} -xref: GARD:19788 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101938 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348972,7 +348940,6 @@ id: MONDO:0015114 name: obsolete rare parenchymal liver disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101939"} -xref: GARD:19789 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101939 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -348983,7 +348950,6 @@ id: MONDO:0015115 name: obsolete rare genetic metabolic liver disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101940"} -xref: GARD:19790 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10019689 {source="Orphanet:101940", source="Orphanet:101940/e"} xref: Orphanet:101940 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -348997,7 +348963,6 @@ def: "OBSOLETE. Rare biliary tract disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101941"} synonym: "rare biliary tract disease" EXACT [MONDO:patterns/rare] -xref: GARD:19791 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101941 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349010,7 +348975,6 @@ def: "OBSOLETE. Any of the forms of hepatobiliary neoplasm that have a rare inci subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101943"} synonym: "rare hepatobiliary neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:19792 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101943 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349020,7 +348984,6 @@ replaced_by: MONDO:0002514 id: MONDO:0015118 name: obsolete rare pulmonary disease subset: ordo_group_of_disorders {source="Orphanet:101944"} -xref: GARD:19793 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101944 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349033,7 +348996,6 @@ name: obsolete bronchopulmonary tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101945"} synonym: "rare bronchopulmonary tumor" EXACT DEPRECATED [] -xref: GARD:19794 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101945 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -349057,7 +349019,6 @@ def: "OBSOLETE. Any of the forms of eye neoplasm that have a rare incidence." [M subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101950"} synonym: "rare eye neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:19795 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101950 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349071,7 +349032,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101952"} synonym: "rare diabetes mellitus" EXACT [] synonym: "rare diabetes mellitus (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19796 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101952 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349085,7 +349045,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101953"} synonym: "rare dyslipidemia" RELATED [Orphanet:101953] synonym: "rare lipid metabolism disorder" EXACT [] -xref: GARD:19797 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.0 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} xref: ICD10CM:E78.1 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} xref: ICD10CM:E78.2 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} @@ -349105,7 +349064,6 @@ id: MONDO:0015124 name: obsolete rare adrenal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101954"} -xref: GARD:19798 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101954 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349119,7 +349077,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101955"} synonym: "rare thyroid disease" EXACT [] synonym: "rare thyroid gland disease" EXACT [MONDO:patterns/rare] -xref: GARD:19799 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101955 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349239,7 +349196,6 @@ name: obsolete acquired chronic primary adrenal insufficiency def: "OBSOLETE. An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_group_of_disorders {source="Orphanet:101963"} synonym: "acquired chronic primary adrenal insufficiency" EXACT [MONDO:patterns/acquired] -xref: GARD:19805 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101963 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -349292,7 +349248,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond id: MONDO:0015132 name: obsolete immunodeficiency predominantly affecting antibody production subset: ordo_group_of_disorders {source="Orphanet:101977"} -xref: GARD:19807 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.0 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} xref: ICD10CM:D80.1 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} xref: ICD10CM:D80.2 {source="Orphanet:101977/specific", source="Orphanet:101977", source="Orphanet:101977/btnt"} @@ -349315,7 +349270,6 @@ is_obsolete: true id: MONDO:0015133 name: obsolete quantitative and/or qualitative congenital phagocyte defect subset: ordo_group_of_disorders {source="Orphanet:101985"} -xref: GARD:19808 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101985 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -349354,7 +349308,6 @@ id: MONDO:0015135 name: obsolete primary immunodeficiency due to a genetic defect in innate immunity subset: ordo_group_of_disorders {source="Orphanet:101988"} synonym: "primary immunodeficiency due to a defect in innate immunity" RELATED [Orphanet:101988] -xref: GARD:19810 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:551037838 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101988"} xref: Orphanet:101988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -349369,7 +349322,6 @@ name: obsolete immunodeficiency due to a genetic complement cascade protein anom comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:101992"} synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [Orphanet:101992] -xref: GARD:19811 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.1 {source="Orphanet:101992", source="Orphanet:101992/e", source="Orphanet:101992/specific"} xref: icd11.foundation:1222145690 {source="Orphanet:101992", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:101992 {source="MONDO:obsoleteEquivalent"} @@ -349403,7 +349355,6 @@ id: MONDO:0015138 name: obsolete rare genetic primary immunodeficiency subset: disease_grouping synonym: "primary immunodeficiency" RELATED [Orphanet:101997] -xref: GARD:19813 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10064859 {source="Orphanet:101997", source="Orphanet:101997/e"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349416,7 +349367,6 @@ def: "OBSOLETE. Rare epilepsy." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101998"} synonym: "rare epilepsy" EXACT [MONDO:patterns/rare] -xref: GARD:19814 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G40.0 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} xref: ICD10CM:G40.1 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} xref: ICD10CM:G40.2 {source="Orphanet:101998", source="Orphanet:101998/ntbt"} @@ -349466,7 +349416,6 @@ synonym: "disorder of medulla oblongata" EXACT [MONDO:patterns/location_top] synonym: "medulla oblongata disease" EXACT [MONDO:design_pattern] synonym: "medulla oblongata disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "medullar disease" RELATED [Orphanet:102000] -xref: GARD:19815 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:102000 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -349486,7 +349435,6 @@ def: "OBSOLETE. Rare movement disorder." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102003"} synonym: "rare movement disorder" EXACT [MONDO:patterns/rare] -xref: GARD:19817 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:102003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349500,7 +349448,6 @@ subset: ordo_group_of_disorders {source="Orphanet:102005"} subset: otar {source="MONDO:OTAR"} synonym: "brain inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of brain" EXACT [] -xref: GARD:19818 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G00-G09 {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: Orphanet:102005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -349513,7 +349460,6 @@ is_obsolete: true id: MONDO:0015145 name: obsolete neurovascular malformation subset: ordo_group_of_disorders {source="Orphanet:102006"} -xref: GARD:19819 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:102006 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -349548,7 +349494,6 @@ id: MONDO:0015147 name: obsolete other syndrome with lissencephaly as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102010"} -xref: GARD:19820 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.3 {source="Orphanet:102010/attributed", source="Orphanet:102010/ntbt", source="Orphanet:102010"} xref: icd11.foundation:805385297 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:102010"} xref: Orphanet:102010 {source="MONDO:obsoleteEquivalent"} @@ -349695,7 +349640,6 @@ comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102020"} synonym: "autosomal deletion" EXACT [Orphanet:102020] -xref: GARD:19826 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.0 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} xref: ICD10CM:Q93.1 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} xref: ICD10CM:Q93.2 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} @@ -349818,7 +349762,6 @@ def: "OBSOLETE. Rare syndromic intellectual disability." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102369"} synonym: "rare syndromic intellectual disability" EXACT [MONDO:patterns/rare] -xref: GARD:19834 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:102369 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350163,7 +350106,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3562/metaphy id: MONDO:0015178 name: obsolete congenital intestinal transport defect subset: ordo_group_of_disorders {source="Orphanet:104003"} -xref: GARD:19841 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:671778206 {source="Orphanet:104003", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:104003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -350176,7 +350118,6 @@ is_obsolete: true id: MONDO:0015179 name: obsolete intestinal disease due to vitamin absorption anomaly subset: ordo_group_of_disorders {source="Orphanet:104004"} -xref: GARD:19842 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104004 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350187,7 +350128,6 @@ is_obsolete: true id: MONDO:0015180 name: obsolete intestinal disease due to fat malabsorption subset: ordo_group_of_disorders {source="Orphanet:104005"} -xref: GARD:19843 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350199,7 +350139,6 @@ id: MONDO:0015181 name: obsolete congenital intestinal disease due to an enzymatic defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: intestinal disease' subset: ordo_group_of_disorders {source="Orphanet:104006"} -xref: GARD:19844 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104006 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -350211,7 +350150,6 @@ consider: MONDO:0005020 id: MONDO:0015182 name: obsolete congenital enteropathy involving intestinal mucosa development subset: ordo_group_of_disorders {source="Orphanet:104007"} -xref: GARD:19845 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104007 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -350257,7 +350195,6 @@ name: obsolete rare disease involving intestinal motility subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:104009"} synonym: "rare genetic intestinal motility disease" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:19846 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104009 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350295,7 +350232,6 @@ subset: ordo_group_of_disorders {source="Orphanet:104011"} synonym: "rare intestinal neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare intestinal tumor" EXACT [Orphanet:104011] synonym: "rare tumor of bowel" EXACT [Orphanet:104011] -xref: GARD:19848 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104011 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350308,7 +350244,6 @@ def: "OBSOLETE. Rare inflammatory bowel disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:104012"} synonym: "rare inflammatory bowel disease" EXACT [MONDO:patterns/rare] -xref: GARD:19849 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104012 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350322,7 +350257,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:104013"} synonym: "intestine metabolic disease" EXACT [MONDO:patterns/location] synonym: "metabolic disease of intestine" EXACT [MONDO:design_pattern] -xref: GARD:19850 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:104013 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -350364,7 +350298,6 @@ id: MONDO:0015192 name: obsolete unclassified intestinal pseudoobstruction subset: ordo_etiological_subtype {source="Orphanet:104078"} subset: ordo_subtype_of_a_disorder {source="Orphanet:104078"} -xref: GARD:19854 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:K59.8 {source="Orphanet:104078/attributed", source="Orphanet:104078/ntbt", source="Orphanet:104078"} xref: Orphanet:104078 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -350726,7 +350659,6 @@ def: "OBSOLETE. A esophageal malformation that is not part of a larger syndrome. subset: ordo_group_of_disorders {source="Orphanet:108959"} synonym: "isolated esophageal malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic esophageal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19855 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108959 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350741,7 +350673,6 @@ def: "OBSOLETE. A esophageal malformation that is part of a larger syndrome." [M subset: ordo_group_of_disorders {source="Orphanet:108961"} synonym: "syndrome associated with esophageal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic esophageal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19856 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108961 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350757,7 +350688,6 @@ def: "OBSOLETE. A gastroduodenal malformation that is not part of a larger syndr subset: ordo_group_of_disorders {source="Orphanet:108963"} synonym: "isolated gastroduodenal malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic gastroduodenal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19857 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108963 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -350772,7 +350702,6 @@ def: "OBSOLETE. A gastroduodenal malformation that is part of a larger syndrome. subset: ordo_group_of_disorders {source="Orphanet:108965"} synonym: "syndrome associated with gastroduodenal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic gastroduodenal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19858 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108965 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350787,7 +350716,6 @@ def: "OBSOLETE. A intestinal malformation that is not part of a larger syndrome. subset: ordo_group_of_disorders {source="Orphanet:108967"} synonym: "isolated intestinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic intestinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19859 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108967 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350801,7 +350729,6 @@ def: "OBSOLETE. A intestinal malformation that is part of a larger syndrome." [M subset: ordo_group_of_disorders {source="Orphanet:108969"} synonym: "syndrome associated with intestinal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic intestinal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19860 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108969 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350815,7 +350742,6 @@ name: obsolete non-syndromic visceral malformation subset: ordo_group_of_disorders {source="Orphanet:108971"} synonym: "isolated visceral malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic visceral malformation" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:19861 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108971 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350826,7 +350752,6 @@ is_obsolete: true id: MONDO:0015214 name: obsolete syndromic visceral malformation subset: ordo_group_of_disorders {source="Orphanet:108973"} -xref: GARD:19862 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108973 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350840,7 +350765,6 @@ def: "OBSOLETE. A diaphragmatic or abdominal wall malformation that is not part subset: ordo_group_of_disorders {source="Orphanet:108977"} synonym: "isolated diaphragmatic or abdominal wall malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic diaphragmatic or abdominal wall malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19863 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108977 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI @@ -350853,7 +350777,6 @@ def: "OBSOLETE. A diaphragmatic or abdominal wall malformation that is part of a subset: ordo_group_of_disorders {source="Orphanet:108979"} synonym: "syndrome associated with diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic diaphragmatic or abdominal wall malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19864 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108979 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI @@ -350892,7 +350815,6 @@ def: "OBSOLETE. A central nervous system malformation that is not part of a larg subset: ordo_group_of_disorders {source="Orphanet:108989"} synonym: "isolated central nervous system malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic central nervous system malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19865 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108989 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350905,7 +350827,6 @@ id: MONDO:0015220 name: obsolete syndrome with a central nervous system malformation as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:108991"} -xref: GARD:19866 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108991 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -350919,7 +350840,6 @@ def: "OBSOLETE. A respiratory or mediastinal malformation that is not part of a subset: ordo_group_of_disorders {source="Orphanet:108993"} synonym: "isolated respiratory or mediastinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic respiratory or mediastinal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19867 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108993 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350933,7 +350853,6 @@ def: "OBSOLETE. A respiratory or mediastinal malformation that is part of a larg subset: ordo_group_of_disorders {source="Orphanet:108995"} synonym: "syndrome associated with respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic respiratory or mediastinal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19868 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -350949,7 +350868,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:108997"} synonym: "rare anemia" EXACT [] synonym: "rare anemia (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19869 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108997 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350962,7 +350880,6 @@ def: "OBSOLETE. Any of the forms of poisoning that have a rare incidence." [MOND subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:108999"} synonym: "rare poisoning" EXACT [MONDO:patterns/rare] -xref: GARD:22533 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:108999 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350992,7 +350909,6 @@ id: MONDO:0015226 name: obsolete syndrome with limb malformations as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:109009"} -xref: GARD:19871 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.2 {source="Orphanet:109009", source="Orphanet:109009/e"} xref: Orphanet:109009 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -351006,7 +350922,6 @@ name: obsolete non-syndromic limb malformation subset: ordo_group_of_disorders {source="Orphanet:109011"} synonym: "isolated limb malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic limb malformation" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:19872 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:109011 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -351473,7 +351388,6 @@ def: "OBSOLETE. Rare intestinal disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:117569"} synonym: "rare intestinal disease" EXACT [MONDO:patterns/rare] -xref: GARD:19873 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:117569 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -351487,7 +351401,6 @@ subset: ordo_group_of_disorders {source="Orphanet:117573"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with anorectal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic anorectal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19874 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:117573 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -352252,6 +352165,7 @@ id: MONDO:0015274 name: chronic beryllium disease def: "Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea." [Orphanet:133] subset: gard_rare {source="GARD:867", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:133"} subset: orphanet_rare {source="Orphanet:133"} subset: otar {source="MONDO:OTAR"} @@ -353054,7 +352968,6 @@ synonym: "endometriosis outside pelvis" EXACT [Orphanet:137820] synonym: "extrapelvic endometriosis" RELATED [Orphanet:137820] synonym: "rare endometriosis" EXACT [] synonym: "rare endometriosis (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19886 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N80.0 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} xref: ICD10CM:N80.1 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} xref: ICD10CM:N80.2 {source="Orphanet:137820", source="Orphanet:137820/btnt"} @@ -353151,7 +353064,6 @@ replaced_by: MONDO:0000107 id: MONDO:0015310 name: obsolete syndromic optic nerve hypoplasia subset: ordo_group_of_disorders {source="Orphanet:137905"} -xref: GARD:19888 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:137905 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -353292,7 +353204,6 @@ id: MONDO:0015319 name: obsolete rare disease with Pierre Robin syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:138044"} -xref: GARD:19895 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138044 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -353328,7 +353239,6 @@ id: MONDO:0015323 name: obsolete teratogenic Pierre Robin syndrome subset: ordo_group_of_disorders {source="Orphanet:138059"} synonym: "teratogenic Pierre Robin sequence" EXACT [Orphanet:138059] -xref: GARD:19899 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138059 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353436,7 +353346,6 @@ subset: ordo_group_of_disorders {source="Orphanet:139012"} synonym: "bone development disorder" EXACT [NCIT:C34432] synonym: "rare bone development disease" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare] synonym: "rare skeletal development disorder" EXACT [Orphanet:139012] -xref: GARD:19901 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C34432 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139012 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -353451,7 +353360,6 @@ subset: ordo_group_of_disorders {source="Orphanet:139021"} synonym: "congenital malformation syndrome and short stature" EXACT [] synonym: "congenital malformation syndrome associated with short stature" EXACT [] synonym: "malformation syndrome associated with short stature" EXACT [] -xref: GARD:19902 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139021 {source="MONDO:obsoleteEquivalent"} xref: SCTID:205808005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -353463,7 +353371,6 @@ consider: MONDO:0019755 id: MONDO:0015330 name: obsolete overgrowth/obesity syndrome subset: ordo_group_of_disorders {source="Orphanet:139024"} -xref: GARD:19903 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139024 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -353475,7 +353382,6 @@ id: MONDO:0015331 name: obsolete malformation syndrome with skin/mucosae involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' subset: ordo_group_of_disorders {source="Orphanet:139027"} -xref: GARD:19904 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139027 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -353487,7 +353393,6 @@ id: MONDO:0015332 name: obsolete rare developmental defect with connective tissue involvement subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:139030"} -xref: GARD:19905 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139030 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -353515,7 +353420,6 @@ relationship: disease_disrupts GO:0010259 ! obsolete multicellular organism agin id: MONDO:0015334 name: obsolete branchial arch or oral-acral syndrome subset: ordo_group_of_disorders {source="Orphanet:139036"} -xref: GARD:19907 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139036 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -353527,7 +353431,6 @@ id: MONDO:0015335 name: obsolete Mendelian syndromes with cleft lip/palate subset: ordo_group_of_disorders {source="Orphanet:139039"} synonym: "orofacial clefting syndrome" EXACT [Orphanet:139039] -xref: GARD:19908 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139039 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:139039", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353541,7 +353444,6 @@ id: MONDO:0015336 name: obsolete malformation syndrome with odontal and/or periodontal component comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' subset: ordo_group_of_disorders {source="Orphanet:139042"} -xref: GARD:19909 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139042 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -354068,7 +353970,6 @@ id: MONDO:0015359 name: obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy subset: ordo_group_of_disorders {source="Orphanet:140453"} synonym: "AD demyelinating HMSN" EXACT [] -xref: GARD:19923 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.0 {source="Orphanet:140453", source="Orphanet:140453/attributed", source="Orphanet:140453/ntbt"} xref: Orphanet:140453 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354082,7 +353983,6 @@ id: MONDO:0015360 name: obsolete autosomal dominant hereditary axonal motor and sensory neuropathy subset: ordo_group_of_disorders {source="Orphanet:140456"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19924 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.0 {source="Orphanet:140456/attributed", source="Orphanet:140456/ntbt", source="Orphanet:140456"} xref: Orphanet:140456 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354098,7 +353998,6 @@ subset: clingen {source="MONDO:CLINGEN"} subset: ordo_group_of_disorders {source="Orphanet:140459"} subset: otar {source="MONDO:OTAR"} synonym: "AR demyelinating HMSN" EXACT [] -xref: GARD:19925 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.0 {source="Orphanet:140459/attributed", source="Orphanet:140459/ntbt", source="Orphanet:140459"} xref: Orphanet:140459 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015361 {source="MONDO:CLINGEN"} @@ -354215,7 +354114,6 @@ subset: clingen {source="MONDO:CLINGEN"} subset: ordo_group_of_disorders {source="Orphanet:140474"} subset: otar {source="MONDO:OTAR"} synonym: "hereditary sensory and autonomic neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:19928 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.8 {source="Orphanet:140474", source="Orphanet:140474/attributed", source="Orphanet:140474/ntbt"} xref: Orphanet:140474 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015365 {source="MONDO:CLINGEN"} @@ -354232,7 +354130,6 @@ def: "OBSOLETE. Autosomal recessive form of hereditary sensory and autonomic neu subset: ordo_group_of_disorders {source="Orphanet:140477"} subset: otar {source="MONDO:OTAR"} synonym: "hereditary sensory and autonomic neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:19929 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.8 {source="Orphanet:140477", source="Orphanet:140477/attributed", source="Orphanet:140477/ntbt"} xref: Orphanet:140477 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354267,7 +354164,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1261/charlie id: MONDO:0015368 name: obsolete neuro-ophthalmological disease subset: ordo_group_of_disorders {source="Orphanet:140653"} -xref: GARD:19930 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:140653 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183616 {source="MONDO:mondoIsBroaderThanSource"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -354605,7 +354501,6 @@ id: MONDO:0015385 name: obsolete external auditory canal aplasia/hypoplasia subset: ordo_disorder {source="Orphanet:141074"} synonym: "external auditory canal stenosis/atresia" EXACT [Orphanet:141074] -xref: GARD:16969 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q16.1 {source="Orphanet:141074", source="Orphanet:141074/e", source="Orphanet:141074/specific"} xref: icd11.foundation:534621578 {source="Orphanet:141074", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:141074 {source="MONDO:obsoleteEquivalent"} @@ -355210,7 +355105,6 @@ name: obsolete median facial cleft subset: ordo_group_of_disorders {source="Orphanet:141234"} synonym: "Midline facial cleft" EXACT [Orphanet:141234] synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [Orphanet:141234] -xref: GARD:19965 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q18.8 {source="Orphanet:141234", source="Orphanet:141234/ntbt"} xref: Orphanet:141234 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355270,7 +355164,6 @@ id: MONDO:0015415 name: obsolete oblique facial cleft subset: ordo_group_of_disorders {source="Orphanet:141253"} synonym: "Orbitofacial cleft" EXACT [Orphanet:141253] -xref: GARD:19967 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q18.8 {source="Orphanet:141253/ntbt", source="Orphanet:141253"} xref: Orphanet:141253 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355326,7 +355219,6 @@ subset: ordo_group_of_disorders {source="Orphanet:141269"} subset: otar {source="MONDO:OTAR"} synonym: "Tessier number 7 facial cleft" EXACT [Orphanet:141269] synonym: "transverse facial cleft" EXACT [Orphanet:141269] -xref: GARD:19970 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q18.8 {source="Orphanet:141269", source="Orphanet:141269/attributed", source="Orphanet:141269/ntbt"} xref: Orphanet:141269 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -356667,7 +356559,6 @@ subset: ordo_disorder {source="Orphanet:154"} subset: otar {source="MONDO:OTAR"} synonym: "familial isolated dilated cardiomyopathy" EXACT CLINGEN_LABEL [] synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [Orphanet:154] -xref: GARD:2905 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I42.0 {source="Orphanet:154/attributed", source="Orphanet:154/ntbt", source="Orphanet:154"} xref: Orphanet:154 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015470 {source="MONDO:CLINGEN"} @@ -356767,7 +356658,6 @@ id: MONDO:0015475 name: obsolete rare head and neck malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:155832"} -xref: GARD:19972 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:155832 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -356811,7 +356701,6 @@ id: MONDO:0015478 name: obsolete paramedian facial cleft subset: ordo_group_of_disorders {source="Orphanet:155867"} synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [Orphanet:155867] -xref: GARD:19975 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q18.8 {source="Orphanet:155867/ntbt", source="Orphanet:155867"} xref: Orphanet:155867 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -356889,7 +356778,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015482 name: obsolete otomandibular dysplasia subset: ordo_group_of_disorders {source="Orphanet:155896"} -xref: GARD:19979 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:424177015 {source="MONDO:obsoleteEquivalent", source="Orphanet:155896", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:155896 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -356964,7 +356852,6 @@ id: MONDO:0015485 name: obsolete primary hereditary glaucoma subset: ordo_group_of_disorders {source="Orphanet:156005"} synonym: "primary glaucoma" RELATED [Orphanet:156005] -xref: GARD:16490 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -356978,7 +356865,6 @@ name: keratoconus def: "A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances." [NCIT:P378] subset: disease_grouping subset: gard_rare {source="GARD:6824", source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "conical cornea" EXACT [DOID:10126] @@ -357046,7 +356932,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1113/fatal-i id: MONDO:0015488 name: obsolete predominantly large-vessel vasculitis subset: ordo_group_of_disorders {source="Orphanet:156140"} -xref: GARD:19981 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156140 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357058,7 +356943,6 @@ is_obsolete: true id: MONDO:0015489 name: obsolete predominantly medium-vessel vasculitis subset: ordo_group_of_disorders {source="Orphanet:156143"} -xref: GARD:19982 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156143 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357070,7 +356954,6 @@ is_obsolete: true id: MONDO:0015490 name: obsolete predominantly small-vessel vasculitis subset: ordo_group_of_disorders {source="Orphanet:156146"} -xref: GARD:19983 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156146 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357153,7 +357036,6 @@ id: MONDO:0015495 name: obsolete otomandibular dysplasia associated with monogenic syndromes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: otomandibular dysplasia' subset: ordo_group_of_disorders {source="Orphanet:156202"} -xref: GARD:19994 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156202 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -357187,7 +357069,6 @@ is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skel id: MONDO:0015497 name: obsolete hypoglossia/aglossia subset: ordo_group_of_disorders {source="Orphanet:156212"} -xref: GARD:19995 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q38.3 {source="Orphanet:156212/inclusion", source="Orphanet:156212", source="Orphanet:156212/ntbt"} xref: icd11.foundation:2087939516 {source="Orphanet:156212", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:156212 {source="MONDO:obsoleteEquivalent"} @@ -357217,7 +357098,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015499 name: obsolete paralytic facial malformation subset: ordo_group_of_disorders {source="Orphanet:156224"} -xref: GARD:19997 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.0 {source="Orphanet:156224/attributed", source="Orphanet:156224/ntbt", source="Orphanet:156224"} xref: Orphanet:156224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -357249,7 +357129,6 @@ id: MONDO:0015501 name: obsolete syndrome or malformation associated with head and neck malformations comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:156237"} -xref: GARD:19998 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156237 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI @@ -357262,7 +357141,6 @@ id: MONDO:0015502 name: obsolete pinnae and external auditory canal anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156243"} -xref: GARD:19999 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156243 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -357270,7 +357148,6 @@ is_obsolete: true id: MONDO:0015503 name: obsolete nose and cavum anomaly subset: ordo_group_of_disorders {source="Orphanet:156246"} -xref: GARD:20000 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q30.0 {source="Orphanet:156246/btnt", source="Orphanet:156246"} xref: ICD10CM:Q30.1 {source="Orphanet:156246/btnt", source="Orphanet:156246"} xref: ICD10CM:Q30.2 {source="Orphanet:156246/btnt", source="Orphanet:156246"} @@ -357289,7 +357166,6 @@ is_obsolete: true id: MONDO:0015504 name: obsolete larynx anomaly subset: ordo_group_of_disorders {source="Orphanet:156249"} -xref: GARD:20001 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q31.0 {source="Orphanet:156249", source="Orphanet:156249/btnt"} xref: ICD10CM:Q31.1 {source="Orphanet:156249", source="Orphanet:156249/btnt"} xref: ICD10CM:Q31.3 {source="Orphanet:156249", source="Orphanet:156249/btnt"} @@ -357308,7 +357184,6 @@ is_obsolete: true id: MONDO:0015505 name: obsolete tracheal anomaly subset: ordo_group_of_disorders {source="Orphanet:156252"} -xref: GARD:20002 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:679333287 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:156252"} xref: Orphanet:156252 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -357322,7 +357197,6 @@ id: MONDO:0015506 name: obsolete rare syndrome with cardiac malformations subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156532"} -xref: GARD:20003 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156532 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -357336,7 +357210,6 @@ def: "OBSOLETE. Rare genetic liver disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156601"} synonym: "rare genetic liver disease" EXACT [] -xref: GARD:20004 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156601 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -357347,7 +357220,6 @@ id: MONDO:0015508 name: obsolete hereditary parenchymatous liver disease subset: ordo_group_of_disorders {source="Orphanet:156604"} synonym: "genetic parenchymatous liver disease" EXACT [Orphanet:156604] -xref: GARD:20005 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156604 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357362,7 +357234,6 @@ name: obsolete hereditary biliary tract disease def: "OBSOLETE. Genetic biliary tract disease." [] subset: ordo_group_of_disorders {source="Orphanet:156607"} synonym: "genetic biliary tract disease" EXACT [MONDO:patterns/genetic] -xref: GARD:20006 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156607 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357378,7 +357249,6 @@ def: "OBSOLETE. Rare genetic respiratory system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156610"} synonym: "rare genetic respiratory system disease" EXACT [] -xref: GARD:20007 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156610 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -357389,7 +357259,6 @@ id: MONDO:0015511 name: obsolete rare genetic urogenital disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156619"} -xref: GARD:20008 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156619 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -357402,7 +357271,6 @@ def: "OBSOLETE. An instance of hypertension that is caused by a modification of subset: ordo_group_of_disorders {source="Orphanet:156629"} synonym: "genetic hypertension" EXACT [MONDO:patterns/genetic] synonym: "genetic hypertensive disorder" EXACT [MONDO:patterns/genetic] -xref: GARD:20010 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156629 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357416,7 +357284,6 @@ def: "OBSOLETE. A form of endocrine system disease that is both rare and inborn. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:156638"} synonym: "rare genetic endocrine system disease" EXACT [] -xref: GARD:20011 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156638 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358261,7 +358128,6 @@ id: MONDO:0015549 name: obsolete rare genetic hematologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:158300"} -xref: GARD:20030 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:158300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1748" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -358692,7 +358558,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:163209"} synonym: "brain malformation due to abnormal neuronal migration" EXACT [Orphanet:163209] synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [Orphanet:163209] -xref: GARD:20041 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.8 {source="Orphanet:163209/attributed", source="Orphanet:163209/ntbt", source="Orphanet:163209"} xref: Orphanet:163209 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -358749,7 +358614,6 @@ def: "OBSOLETE. Rare bacterial infectious disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163582"} synonym: "rare bacterial infectious disease" EXACT [MONDO:patterns/rare] -xref: GARD:20044 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163582 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358763,7 +358627,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163585"} synonym: "rare viral disease" EXACT [MONDO:patterns/rare] synonym: "rare viral infectious disease" EXACT [MONDO:patterns/rare] -xref: GARD:20045 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163585 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358777,7 +358640,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163588"} synonym: "rare parasitic infection" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare] synonym: "rare parasitic infectious disease" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20046 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163588 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358790,7 +358652,6 @@ def: "OBSOLETE. Rare fungal infectious disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163591"} synonym: "rare fungal infectious disease" EXACT [MONDO:patterns/rare] -xref: GARD:20047 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163591 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358856,7 +358717,6 @@ id: MONDO:0015581 name: obsolete bile acid synthesis defect with cholestasis and malabsorption comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of bile acid synthesis' subset: ordo_group_of_disorders {source="Orphanet:163631"} -xref: GARD:20048 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:K76.8 {source="Orphanet:163631", source="Orphanet:163631/attributed", source="Orphanet:163631/ntbt"} xref: icd11.foundation:1295299670 {source="MONDO:obsoleteEquivalent", source="Orphanet:163631", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:163631 {source="MONDO:obsoleteEquivalent"} @@ -358872,7 +358732,6 @@ def: "OBSOLETE. Any of the forms of pregnancy disorder that have a rare incidenc subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:163637"} synonym: "rare pregnancy disorder" EXACT [MONDO:patterns/rare] -xref: GARD:20049 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163637 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -358968,7 +358827,6 @@ def: "OBSOLETE. Benign familial mesial temporal lobe epilepsy is a rare epilepsy subset: ordo_disorder {source="Orphanet:163717"} subset: otar {source="MONDO:OTAR"} synonym: "benign FMTLE" EXACT [Orphanet:163717] -xref: GARD:17001 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:163717 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359255,7 +359113,6 @@ id: MONDO:0015603 name: obsolete rare odontal or periodontal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:164001"} -xref: GARD:20055 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:164001 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -359560,7 +359417,6 @@ name: obsolete rare genetic gastroenterological disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165652"} synonym: "rare genetic gastrointestinal system disease" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20059 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165652 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -359572,7 +359428,6 @@ name: obsolete rare genetic intestinal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165655"} synonym: "genetic intestinal disease" EXACT [Orphanet:165655] -xref: GARD:20060 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165655 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -359583,7 +359438,6 @@ id: MONDO:0015617 name: obsolete hereditary gastro-esophageal disease subset: ordo_group_of_disorders {source="Orphanet:165658"} synonym: "genetic gastro-esophageal disease" EXACT [Orphanet:165658] -xref: GARD:20061 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165658 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359595,7 +359449,6 @@ id: MONDO:0015618 name: obsolete genetic pancreatic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165661"} -xref: GARD:20062 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165661 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -359608,7 +359461,6 @@ def: "OBSOLETE. A urogenital tract malformation that is not part of a larger syn subset: ordo_group_of_disorders {source="Orphanet:165704"} synonym: "isolated urogenital tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic urogenital tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:20063 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165704 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359622,7 +359474,6 @@ def: "OBSOLETE. A urogenital tract malformation that is part of a larger syndrom subset: ordo_group_of_disorders {source="Orphanet:165707"} synonym: "syndrome associated with urogenital tract malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic urogenital tract malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:20064 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165707 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359635,7 +359486,6 @@ id: MONDO:0015621 name: obsolete rare abdominal surgical disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165711"} -xref: GARD:22534 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:165711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -360236,7 +360086,6 @@ id: MONDO:0015651 name: obsolete neurocutaneous syndrome with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurocutaneous syndrome' subset: ordo_group_of_disorders {source="Orphanet:166466"} -xref: GARD:20084 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166466 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360248,7 +360097,6 @@ id: MONDO:0015652 name: obsolete chromosomal anomaly with epilepsy as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:166469"} -xref: GARD:20085 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -360274,7 +360122,6 @@ id: MONDO:0015654 name: obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: epilepsy subset: ordo_group_of_disorders {source="Orphanet:166475"} -xref: GARD:20087 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166475 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360286,7 +360133,6 @@ id: MONDO:0015655 name: obsolete cerebral malformation with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebral malformation' subset: ordo_group_of_disorders {source="Orphanet:166478"} -xref: GARD:20088 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166478 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360299,7 +360145,6 @@ name: obsolete metabolic disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:166481"} synonym: "metabolic diseases with epilepsy" EXACT [Orphanet:166481] -xref: GARD:20089 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166481 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360311,7 +360156,6 @@ id: MONDO:0015657 name: obsolete inflammatory and autoimmune disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' and 'autoimmune disease'. subset: ordo_group_of_disorders {source="Orphanet:166484"} -xref: GARD:20090 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166484 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360324,7 +360168,6 @@ id: MONDO:0015658 name: obsolete cerebral diseases of vascular origin with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: nervous system disorder' subset: ordo_group_of_disorders {source="Orphanet:166487"} -xref: GARD:20091 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166487 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360336,7 +360179,6 @@ id: MONDO:0015659 name: obsolete infectious disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease' subset: ordo_group_of_disorders {source="Orphanet:166490"} -xref: GARD:20092 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166490 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360401,7 +360243,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:166775"} synonym: "rare bleeding disorder due to an acquired coagulation factor defect" EXACT [Orphanet:166775] synonym: "rare coagulopathy due to an acquired coagulation factor defect" EXACT [Orphanet:166775] -xref: GARD:20093 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:166775 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -360559,7 +360400,6 @@ id: MONDO:0015668 name: obsolete hereditary dentin defect def: "OBSOLETE. The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions." [Orphanet:167759] subset: ordo_group_of_disorders {source="Orphanet:167759"} -xref: GARD:20094 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:K00.5 {source="Orphanet:167759", source="Orphanet:167759/attributed", source="Orphanet:167759/ntbt"} xref: Orphanet:167759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -360572,7 +360412,6 @@ id: MONDO:0015669 name: obsolete rare disease with dentinogenesis imperfecta subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:167762"} -xref: GARD:20095 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:167762 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -360617,7 +360456,6 @@ def: "OBSOLETE. Any of the forms of heart neoplasm that have a rare incidence." subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:168194"} synonym: "rare heart neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:20097 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:168194 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -360730,7 +360568,6 @@ id: MONDO:0015679 name: obsolete autosomal thrombocytopenia with normal platelets subset: ordo_subtype_of_a_disorder {source="Orphanet:168629"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17041 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.4 {source="Orphanet:168629/attributed", source="Orphanet:168629/ntbt", source="Orphanet:168629"} xref: Orphanet:168629 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -360749,7 +360586,6 @@ synonym: "rare ASD" NARROW [Orphanet:168778] synonym: "rare autism spectrum disorder" NARROW [Orphanet:168778] synonym: "rare PDD" NARROW [Orphanet:168778] synonym: "rare pervasive developmental disorder" NARROW [MONDO:patterns/rare] -xref: GARD:20099 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:F84.0 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} xref: ICD10CM:F84.1 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} xref: ICD10CM:F84.2 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} @@ -360803,7 +360639,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6040/childho id: MONDO:0015682 name: obsolete primary peritoneal tumor subset: ordo_group_of_disorders {source="Orphanet:168803"} -xref: GARD:20100 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:168803 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -360814,7 +360649,6 @@ is_obsolete: true id: MONDO:0015683 name: obsolete primary malignant peritoneal tumor subset: ordo_group_of_disorders {source="Orphanet:168807"} -xref: GARD:20101 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C45.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"} xref: ICD10CM:C48.1 {source="Orphanet:168807/btnt", source="Orphanet:168807"} xref: ICD10CM:C48.2 {source="Orphanet:168807/btnt", source="Orphanet:168807"} @@ -361342,7 +361176,6 @@ relationship: has_characteristic MONDO:0700062 {source="https://orcid.org/0000-0 id: MONDO:0015707 name: obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies subset: ordo_group_of_disorders {source="Orphanet:169346"} -xref: GARD:20114 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1362501774 {source="Orphanet:169346", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:169346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -361373,7 +361206,6 @@ id: MONDO:0015709 name: obsolete immunodeficiency syndrome with autoimmunity comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:169355"} -xref: GARD:20116 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1902856995 {source="Orphanet:169355", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:169355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -361386,7 +361218,6 @@ id: MONDO:0015710 name: obsolete immune dysregulation disease with immunodeficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity' subset: ordo_group_of_disorders {source="Orphanet:169361"} -xref: GARD:20117 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:169361 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -361398,7 +361229,6 @@ id: MONDO:0015711 name: obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency predominantly affecting antibody production' subset: ordo_group_of_disorders {source="Orphanet:169443"} -xref: GARD:20118 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.6 {source="Orphanet:169443", source="Orphanet:169443/e", source="Orphanet:169443/specific"} xref: icd11.foundation:29897844 {source="Orphanet:169443", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: NANDO:1200348 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -362561,7 +362391,6 @@ id: MONDO:0015765 name: obsolete congenital myopathy with cores subset: ordo_group_of_disorders {source="Orphanet:172976"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20134 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.2 {source="Orphanet:172976/attributed", source="Orphanet:172976/ntbt", source="Orphanet:172976"} xref: Orphanet:172976 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -362880,7 +362709,6 @@ name: obsolete adult hypothyroidism def: "OBSOLETE. A hypothyroidism that occurs in an adult." [MONDO:patterns/adult] subset: ordo_group_of_disorders {source="Orphanet:177101"} synonym: "rare adult hypothyroidism" EXACT DEPRECATED [Orphanet:177101] -xref: GARD:20136 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:177101 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -362896,7 +362724,6 @@ subset: ordo_group_of_disorders {source="Orphanet:177107"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with hypothyroidism" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hypothyroidism" EXACT [MONDO:patterns/syndromic] -xref: GARD:20137 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:177107 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -363134,7 +362961,6 @@ id: MONDO:0015789 name: obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' subset: ordo_group_of_disorders {source="Orphanet:178025"} -xref: GARD:20140 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E23.0 {source="Orphanet:178025", source="MONDO:relatedTo", source="Orphanet:178025/attributed", source="Orphanet:178025/ntbt"} xref: Orphanet:178025 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -363766,7 +363592,6 @@ is_a: MONDO:0015758 {source="Orphanet:178548"} ! primary cutaneous T-cell lympho id: MONDO:0015817 name: obsolete aggressive primary cutaneous T-cell lymphoma subset: ordo_group_of_disorders {source="Orphanet:178551"} -xref: GARD:20162 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:178551 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -363779,7 +363604,6 @@ is_obsolete: true id: MONDO:0015818 name: obsolete aggressive primary cutaneous B-cell lymphoma subset: ordo_group_of_disorders {source="Orphanet:178554"} -xref: GARD:20163 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:178554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -363843,7 +363667,6 @@ subset: ordo_group_of_disorders {source="Orphanet:178996"} subset: otar {source="MONDO:OTAR"} synonym: "acquired neutropenia" EXACT [MONDO:patterns/acquired] synonym: "immunologic neutropenia" EXACT [Orphanet:178996] -xref: GARD:20167 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:348671706 {source="MONDO:obsoleteEquivalent", source="Orphanet:178996", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:178996 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -363857,7 +363680,6 @@ id: MONDO:0015823 name: obsolete primary immunodeficiency due to a defect in adaptive immunity subset: ordo_group_of_disorders {source="Orphanet:179006"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20168 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1169765917 {source="MONDO:obsoleteEquivalent", source="Orphanet:179006", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:179006 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -363901,7 +363723,6 @@ id: MONDO:0015825 name: obsolete obesity due to congenital leptin resistance comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: genetic non-syndromic obesity' subset: ordo_subtype_of_a_disorder {source="Orphanet:179490"} -xref: GARD:20169 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E66.8 {source="Orphanet:179490/attributed", source="Orphanet:179490/ntbt", source="Orphanet:179490"} xref: Orphanet:179490 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -363970,7 +363791,6 @@ property_value: IAO:0000589 "distal renal tubular acidosis (disease)" xsd:string id: MONDO:0015828 name: obsolete uterovaginal malformation subset: ordo_group_of_disorders {source="Orphanet:180062"} -xref: GARD:20170 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180062 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -363984,7 +363804,6 @@ def: "OBSOLETE. A uterovaginal malformation that is not part of a larger syndrom subset: ordo_group_of_disorders {source="Orphanet:180065"} synonym: "isolated uterovaginal malformation" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic uterovaginal malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:20171 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180065 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -364122,7 +363941,6 @@ is_a: MONDO:0015834 {source="Orphanet:180111"} ! didelphys uterus id: MONDO:0015837 name: obsolete Unicervical bicornuate uterus subset: ordo_disorder {source="Orphanet:180114"} -xref: GARD:20179 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q51.3 {source="Orphanet:180114/ntbt", source="Orphanet:180114"} xref: Orphanet:180114 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -364302,7 +364120,6 @@ def: "OBSOLETE. A uterovaginal malformation that is part of a larger syndrome." subset: ordo_group_of_disorders {source="Orphanet:180148"} synonym: "syndrome associated with uterovaginal malformation" EXACT [MONDO:patterns/syndromic] synonym: "syndromic uterovaginal malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:20187 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180148 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -364315,7 +364132,6 @@ id: MONDO:0015847 name: obsolete rare vaginal malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180151"} -xref: GARD:20188 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180151 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364327,7 +364143,6 @@ id: MONDO:0015848 name: obsolete septate vagina subset: ordo_disorder {source="Orphanet:180154"} subset: ordo_morphological_anomaly {source="Orphanet:180154"} -xref: GARD:20189 {source="MONDO:obsoleteEquivalent"} xref: HP:0001153 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q52.1 {source="Orphanet:180154", source="Orphanet:180154/ntbt"} xref: icd11.foundation:1699475508 {source="MONDO:obsoleteEquivalent", source="Orphanet:180154", source="https://orcid.org/0000-0002-4142-7153"} @@ -364389,7 +364204,6 @@ id: MONDO:0015851 name: obsolete rare breast malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180163"} -xref: GARD:20192 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180163 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364400,7 +364214,6 @@ is_obsolete: true id: MONDO:0015852 name: obsolete excess breast volume or number subset: ordo_group_of_disorders {source="Orphanet:180170"} -xref: GARD:20193 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180170 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -364411,7 +364224,6 @@ is_obsolete: true id: MONDO:0015853 name: obsolete deficient breast volume or number subset: ordo_group_of_disorders {source="Orphanet:180173"} -xref: GARD:20194 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180173 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -364478,7 +364290,6 @@ id: MONDO:0015857 name: obsolete rare non-malformative gynecologic or obstetric disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180199"} -xref: GARD:20197 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180199 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364490,7 +364301,6 @@ id: MONDO:0015858 name: obsolete rare non-malformative breast disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180202"} -xref: GARD:20198 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180202 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364502,7 +364312,6 @@ id: MONDO:0015859 name: obsolete rare non-malformative uterovaginal or vulvovaginal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180205"} -xref: GARD:20199 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180205 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364513,7 +364322,6 @@ is_obsolete: true id: MONDO:0015860 name: obsolete anomaly of puberty or/and menstrual cycle subset: ordo_group_of_disorders {source="Orphanet:180208"} -xref: GARD:20200 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180208 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -364526,7 +364334,6 @@ name: obsolete rare uterine adnexal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180220"} synonym: "syn: Rare tumor of ovaries and fallopian tubes" EXACT [Orphanet:180220] -xref: GARD:20201 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364643,7 +364450,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180250"} synonym: "rare breast cancer" NARROW [] synonym: "rare breast neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:20205 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180250 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -364656,7 +364462,6 @@ def: "OBSOLETE. Any of the forms of breast benign neoplasm that have a rare inci subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180253"} synonym: "rare breast benign neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:12775 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180253 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -364669,7 +364474,6 @@ def: "OBSOLETE. Any of the forms of breast cancer that have a rare incidence." [ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180257"} synonym: "rare breast cancer" EXACT [MONDO:patterns/rare, Orphanet:180257] -xref: GARD:12772 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180257 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -364736,7 +364540,6 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant id: MONDO:0015872 name: obsolete giant adenofibroma of the breast subset: nord_rare {source="MONDO:NORD"} -xref: GARD:20206 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7047" xsd:anyURI is_obsolete: true @@ -364788,7 +364591,6 @@ id: MONDO:0015875 name: obsolete rare non-malformative uterine adnexal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180303"} -xref: GARD:20207 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180303 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364800,7 +364602,6 @@ id: MONDO:0015876 name: obsolete rare vulvovaginal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180312"} -xref: GARD:20208 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180312 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364812,7 +364613,6 @@ id: MONDO:0015877 name: obsolete malformative syndrome with dentinogenesis imperfecta comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' subset: ordo_group_of_disorders {source="Orphanet:180766"} -xref: GARD:20209 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180766 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -364825,7 +364625,6 @@ name: obsolete rare disease with autism comment: This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180772"} -xref: GARD:10248 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180772 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1766" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364838,7 +364637,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180776"} synonym: "isolated diaphragmatic or thoracic malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic diaphragmatic or thoracic malformation" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20211 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180776 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4648" xsd:anyURI @@ -364850,7 +364648,6 @@ consider: MONDO:0015929 id: MONDO:0015880 name: obsolete syndromic diaphragmatic or thoracic malformation subset: ordo_group_of_disorders {source="Orphanet:180779"} -xref: GARD:20212 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180779 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4648" xsd:anyURI @@ -364866,7 +364663,6 @@ comment: Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180821"} synonym: "rare gastroesophageal tumor" EXACT [Orphanet:180821] -xref: GARD:20213 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:180821 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1760" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364882,7 +364678,6 @@ synonym: "rare pancreas neoplasm" EXACT [] synonym: "rare pancreas tumor" EXACT [] synonym: "rare pancreatic neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare pancreatic tumor" EXACT [Orphanet:180824] -xref: GARD:9364 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10061902 {source="Orphanet:180824", source="Orphanet:180824/e"} xref: Orphanet:180824 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364945,7 +364740,6 @@ def: "OBSOLETE. A cluster of closely related metabolic abnormalities associated subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181368"} synonym: "insulin Resistance syndrome" EXACT [NCIT:C113169] -xref: GARD:20214 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C113169 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181368 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -364961,7 +364755,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181371"} synonym: "rare insulin-dependent diabetes mellitus" EXACT [Orphanet:181371] synonym: "rare type 1 diabetes mellitus" EXACT [MONDO:patterns/rare] -xref: GARD:20215 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181371 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -364973,7 +364766,6 @@ name: obsolete rare diabetes mellitus type 2 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181376"} synonym: "rare insulin-independent diabetes mellitus" EXACT [Orphanet:181376] -xref: GARD:20216 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364985,7 +364777,6 @@ id: MONDO:0015888 name: obsolete other rare diabetes mellitus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181381"} -xref: GARD:20217 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181381 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -364996,7 +364787,6 @@ id: MONDO:0015889 name: obsolete rare hypothalamic or pituitary disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181384"} -xref: GARD:20218 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181384 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365010,7 +364800,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181387"} synonym: "rare disorder with hypogonadotropic hypogonadism" RELATED [Orphanet:181387] synonym: "rare disorder with secondary hypogonadism" EXACT [Orphanet:181387] -xref: GARD:20219 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181387 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365022,7 +364811,6 @@ id: MONDO:0015891 name: obsolete hypogonadotropic hypogonadism associated with other endocrinopathies subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181390"} -xref: GARD:20220 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181390 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -365058,7 +364846,6 @@ def: "OBSOLETE. Any of the forms of hypothyroidism that have a rare incidence." subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181396"} synonym: "rare hypothyroidism" EXACT [MONDO:patterns/rare] -xref: GARD:20221 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181396 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365071,7 +364858,6 @@ def: "OBSOLETE. Any of the forms of hyperthyroidism that have a rare incidence." subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181399"} synonym: "rare hyperthyroidism" EXACT [MONDO:patterns/rare] -xref: GARD:20222 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E05.0 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} xref: ICD10CM:E05.1 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} xref: ICD10CM:E05.2 {source="Orphanet:181399/specific", source="Orphanet:181399", source="Orphanet:181399/btnt"} @@ -365090,7 +364876,6 @@ id: MONDO:0015895 name: obsolete syndrome with hypoparathyroidism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:181402"} -xref: GARD:20223 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1200775 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2100124 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200345 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -365107,7 +364892,6 @@ def: "OBSOLETE. Rare hypoparathyroidism." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181405"} synonym: "rare hypoparathyroidism" EXACT [MONDO:patterns/rare] -xref: GARD:20224 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E20.0 {source="Orphanet:181405", source="Orphanet:181405/btnt"} xref: ICD10CM:E20.1 {source="Orphanet:181405", source="Orphanet:181405/btnt"} xref: ICD10CM:E20.8 {source="Orphanet:181405", source="Orphanet:181405/btnt"} @@ -365124,7 +364908,6 @@ def: "OBSOLETE. Rare hyperparathyroidism." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181408"} synonym: "rare hyperparathyroidism" EXACT [MONDO:patterns/rare] -xref: GARD:20225 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E21.0 {source="Orphanet:181408/btnt", source="Orphanet:181408"} xref: ICD10CM:E21.1 {source="Orphanet:181408/btnt", source="Orphanet:181408"} xref: ICD10CM:E21.2 {source="Orphanet:181408/btnt", source="Orphanet:181408"} @@ -365169,7 +364952,6 @@ subset: ordo_group_of_disorders {source="Orphanet:181415"} synonym: "rare Conn syndrome" EXACT [] synonym: "rare Conn's syndrome" EXACT [] synonym: "rare primary aldosteronism" EXACT [MONDO:patterns/rare, Orphanet:181415] -xref: GARD:20227 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E26.0 {source="Orphanet:181415", source="Orphanet:181415/ntbt"} xref: Orphanet:181415 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365204,7 +364986,6 @@ name: obsolete rare inherited hyperlipidemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181422"} synonym: "rare hyperlipidemia" RELATED [Orphanet:181422] -xref: GARD:20229 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.0 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} xref: ICD10CM:E78.1 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} xref: ICD10CM:E78.2 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} @@ -365256,7 +365037,6 @@ id: MONDO:0015904 name: obsolete rare hypolipidemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181431"} -xref: GARD:20231 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.6 {source="Orphanet:181431/attributed", source="Orphanet:181431/ntbt", source="Orphanet:181431"} xref: Orphanet:181431 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365292,7 +365072,6 @@ name: obsolete rare disorder with hypergonadotropic hypogonadism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181441"} synonym: "rare disorder with primary hypogonadism" EXACT [Orphanet:181441] -xref: GARD:20233 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365405,7 +365184,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182043"} synonym: "rare familial constitutional hemolytic anemia" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "rare genetic constitutional hemolytic anemia" RELATED [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20235 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365418,7 +365196,6 @@ def: "OBSOLETE. Hemolytic anemia, the cause of which is not present at birth." [ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182047"} synonym: "Acquired hemolytic Anemia" EXACT [NCIT:C34377] -xref: GARD:20236 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D59.0 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"} xref: ICD10CM:D59.1 {source="Orphanet:182047/btnt", source="Orphanet:182047"} xref: ICD10CM:D59.2 {source="Orphanet:182047/btnt", source="Orphanet:182047"} @@ -365516,7 +365293,6 @@ id: MONDO:0015913 name: obsolete rare thrombotic disease of hematologic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182054"} -xref: GARD:20237 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182054 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365543,7 +365319,6 @@ id: MONDO:0015915 name: obsolete cerebellar malformation subset: ordo_group_of_disorders {source="Orphanet:182061"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20238 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -365556,7 +365331,6 @@ id: MONDO:0015916 name: obsolete rare neuroinflammatory or neuroimmunological disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182064"} -xref: GARD:20239 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182064 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365579,7 +365353,6 @@ def: "OBSOLETE. Rare neurodegenerative disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182070"} synonym: "rare neurodegenerative disease" EXACT [MONDO:patterns/rare] -xref: GARD:20240 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182070 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365610,7 +365383,6 @@ id: MONDO:0015921 name: obsolete ARX-related epileptic encephalopathy subset: ordo_group_of_disorders {source="Orphanet:182079"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20241 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182079 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -365623,7 +365395,6 @@ id: MONDO:0015922 name: obsolete channelopathy with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: channelopathy subset: ordo_group_of_disorders {source="Orphanet:182083"} -xref: GARD:20242 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182083 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -365767,7 +365538,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:182104"} synonym: "CTD-ILD" EXACT [Orphanet:182104] synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [Orphanet:182104] -xref: GARD:20247 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182104 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -365793,7 +365563,6 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0015930 name: obsolete respiratory malformation subset: ordo_group_of_disorders {source="Orphanet:182111"} -xref: GARD:20249 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182111 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -365805,7 +365574,6 @@ id: MONDO:0015931 name: obsolete rare urogenital tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182114"} -xref: GARD:20250 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182114 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365820,7 +365588,6 @@ synonym: "female organism non-syndromic urogenital tract malformation" EXACT [MO synonym: "isolated urogenital tract malformation of female" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic urogenital tract malformation of female organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of female" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20251 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182117 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -365837,7 +365604,6 @@ synonym: "isolated urogenital tract malformation of male" RELATED [https://orcid synonym: "male organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic urogenital tract malformation of male organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of male" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20252 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182121 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -365851,7 +365617,6 @@ name: obsolete non-syndromic urogenital tract malformation of male and female subset: ordo_group_of_disorders {source="Orphanet:182124"} synonym: "isolated urogenital tract malformation of male and female" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic urogenital tract malformation of male and female" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20253 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182124 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI @@ -365884,7 +365649,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182130"} synonym: "endocrine gland rare tumor" EXACT [MONDO:patterns/location] synonym: "tumor of endocrine glands" RELATED [Orphanet:182130] -xref: GARD:20254 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10061121 {source="Orphanet:182130", source="Orphanet:182130/e"} xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365917,7 +365681,6 @@ comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182228"} synonym: "autoimmune systemic disease" EXACT [] -xref: GARD:20256 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182228 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI @@ -365932,7 +365695,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182231"} synonym: "rare rheumatologic disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare] synonym: "rare rheumatological disease" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20257 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182231 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366104,7 +365866,6 @@ def: "OBSOLETE. Polymalformative genetic syndrome with increased risk of develop comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome' subset: ordo_group_of_disorders {source="Orphanet:183422"} synonym: "PGSIRC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20259 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183422 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -366117,7 +365878,6 @@ name: obsolete rare genetic epidermal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183426"} synonym: "genetic epidermal disorder" RELATED [Orphanet:183426] -xref: GARD:20260 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183426 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366163,7 +365923,6 @@ name: obsolete rare genetic skin vascular disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183478"} synonym: "genetic skin vascular disorder" RELATED [Orphanet:183478] -xref: GARD:20273 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183478 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366175,7 +365934,6 @@ name: obsolete rare genetic subcutaneous tissue disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183484"} synonym: "genetic subcutaneous tissue disorder" RELATED [Orphanet:183484] -xref: GARD:20275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183484 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366187,7 +365945,6 @@ name: obsolete inherited skin tumor subset: ordo_group_of_disorders {source="Orphanet:183487"} synonym: "genetic skin tumor" RELATED [Orphanet:183487] synonym: "genetic skin tumour" RELATED OMO:0003005 [] -xref: GARD:20276 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183487 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -366228,7 +365985,6 @@ replaced_by: MONDO:0024237 id: MONDO:0015953 name: obsolete genetic central nervous system and retinal vascular disease subset: ordo_group_of_disorders {source="Orphanet:183503"} -xref: GARD:20281 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183503 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -366241,7 +365997,6 @@ name: obsolete rare genetic headache disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183509"} synonym: "rare genetic headache" EXACT [Orphanet:183509] -xref: GARD:20283 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183509 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366254,7 +366009,6 @@ def: "OBSOLETE. A form of epilepsy that is both rare and inborn." [MONDO:pattern subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183512"} synonym: "rare genetic epilepsy" EXACT [] -xref: GARD:20284 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183512 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366274,7 +366028,6 @@ def: "OBSOLETE. Rare genetic movement disorder." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183521"} synonym: "rare genetic movement disorder" EXACT [] -xref: GARD:20287 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183521 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366287,7 +366040,6 @@ def: "OBSOLETE. Rare genetic bone disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183524"} synonym: "rare genetic bone disease" EXACT [] -xref: GARD:20288 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183524 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366299,7 +366051,6 @@ name: obsolete inherited syndrome with bone tumors as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183527"} synonym: "genetic bone tumor" RELATED [Orphanet:183527] -xref: GARD:20289 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183527 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI @@ -366311,7 +366062,6 @@ id: MONDO:0015960 name: obsolete rare genetic developmental defect during embryogenesis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183530"} -xref: GARD:20290 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183530 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366322,7 +366072,6 @@ id: MONDO:0015961 name: obsolete hereditary head and neck malformation subset: ordo_group_of_disorders {source="Orphanet:183583"} synonym: "genetic head and neck malformation" EXACT [Orphanet:183583] -xref: GARD:20303 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10-Q18 {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: Orphanet:183583 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -366353,7 +366102,6 @@ name: obsolete inherited renal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183595"} synonym: "genetic renal tumor" RELATED [Orphanet:183595] -xref: GARD:20307 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183595 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366383,7 +366131,6 @@ name: obsolete hereditary eye tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183619"} synonym: "genetic eye tumor" RELATED [Orphanet:183619] -xref: GARD:20310 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183619 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366415,7 +366162,6 @@ id: MONDO:0015968 name: obsolete rare genetic hypothalamic or pituitary disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183628"} -xref: GARD:20313 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183628 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366429,7 +366175,6 @@ def: "OBSOLETE. Rare genetic thyroid disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183631"} synonym: "rare genetic thyroid disease" EXACT [] -xref: GARD:20314 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183631 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366440,7 +366185,6 @@ id: MONDO:0015970 name: obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183634"} -xref: GARD:20315 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183634 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366452,7 +366196,6 @@ id: MONDO:0015971 name: obsolete rare genetic adrenal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183637"} -xref: GARD:20316 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183637 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366467,7 +366210,6 @@ subset: ordo_group_of_disorders {source="Orphanet:183651"} synonym: "rare constitutional anemia (disease)" EXACT [MONDO:patterns/rare_genetic] synonym: "rare genetic anemia (disease)" EXACT [] synonym: "rare inborn anemia (disease)" EXACT [MONDO:patterns/rare_genetic] -xref: GARD:20318 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183651 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366521,7 +366263,6 @@ id: MONDO:0015975 name: obsolete hyper-IgM syndrome with susceptibility to opportunistic infections subset: ordo_disorder {source="Orphanet:183663"} synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663] -xref: GARD:17084 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.5 {source="Orphanet:183663", source="Orphanet:183663/attributed", source="Orphanet:183663/ntbt"} xref: Orphanet:183663 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:183663", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency @@ -366537,7 +366278,6 @@ id: MONDO:0015976 name: obsolete hyper-IgM syndrome without susceptibility to opportunistic infections subset: ordo_disorder {source="Orphanet:183666"} synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666] -xref: GARD:17085 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.5 {source="Orphanet:183666/attributed", source="Orphanet:183666/ntbt", source="Orphanet:183666"} xref: Orphanet:183666 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -366612,7 +366352,6 @@ id: MONDO:0015979 name: obsolete hereditary predisposition to infections subset: ordo_group_of_disorders {source="Orphanet:183710"} synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710] -xref: GARD:20322 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.8 {source="Orphanet:183710/attributed", source="Orphanet:183710/ntbt", source="Orphanet:183710"} xref: Orphanet:183710 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015135 {source="Orphanet:183710", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary immunodeficiency due to a genetic defect in innate immunity @@ -366628,7 +366367,6 @@ name: obsolete rare genetic gynecological and obstetrical diseases subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183731"} synonym: "rare genetic female reproductive system disease" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20323 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183731 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366641,7 +366379,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183734"} synonym: "genetic gynecological tumor" EXACT [Orphanet:183734] synonym: "rare genetic female reproductive system tumor" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:20324 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183734 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366652,7 +366389,6 @@ def: "OBSOLETE. Rare genetic intellectual disability." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183757"} synonym: "rare genetic intellectual disability" EXACT [] -xref: GARD:20325 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183757 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366665,7 +366401,6 @@ def: "OBSOLETE. Rare genetic syndromic intellectual disability." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183763"} synonym: "rare genetic syndromic intellectual disability" EXACT [] -xref: GARD:20326 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183763 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366678,7 +366413,6 @@ def: "OBSOLETE. Rare genetic immune system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183770"} synonym: "rare genetic immune system disease" EXACT [] -xref: GARD:20327 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183770 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -367986,7 +367720,6 @@ id: MONDO:0016034 name: obsolete cleft lip with or without cleft palate subset: ordo_group_of_disorders {source="Orphanet:1991"} synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991] -xref: GARD:18754 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q36.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"} @@ -368443,7 +368176,6 @@ name: obsolete cerebral malformation subset: ordo_group_of_disorders {source="Orphanet:199633"} subset: otar {source="MONDO:OTAR"} synonym: "brain malformation" EXACT [Orphanet:199633] -xref: GARD:20338 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2100217 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:199633 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:199633", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation @@ -368458,7 +368190,6 @@ id: MONDO:0016055 name: obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:199639"} -xref: GARD:20339 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:199639 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -368861,7 +368592,6 @@ name: obsolete anomaly of puberty or/and menstrual cycle of genetic origin def: "OBSOLETE. An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:202940"} synonym: "genetic anomaly of puberty or/and menstrual cycle" EXACT [MONDO:patterns/genetic] -xref: GARD:20341 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:202940 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -369575,7 +369305,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:206613"} synonym: "peripheral nerve infection" EXACT [NCIT:C27589] synonym: "peripheral nervous system infectious disorder" EXACT [NCIT:C27589] -xref: GARD:20357 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C27589 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206613 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -369682,7 +369411,6 @@ name: obsolete autosomal recessive distal myopathy def: "OBSOLETE. Autosomal recessive form of distal myopathy." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:206653"} synonym: "distal myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:20362 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.0 {source="Orphanet:206653/attributed", source="Orphanet:206653/ntbt", source="Orphanet:206653"} xref: Orphanet:206653 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369701,7 +369429,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206656"} synonym: "non dystrophic myotonia" EXACT [NCIT:C122787] synonym: "non-dystrophic myotonia" EXACT [NCIT:C122787] -xref: GARD:20363 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1200496 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NCIT:C122787 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206656 {source="MONDO:obsoleteEquivalent"} @@ -369771,7 +369498,6 @@ synonym: "bulbospinal muscular atrophy of childhood" EXACT [MONDO:patterns/child synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "paediatric bulbospinal muscular atrophy" EXACT OMO:0003005 [] synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -xref: GARD:20366 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.2 {source="Orphanet:206704/attributed", source="Orphanet:206704/ntbt", source="Orphanet:206704"} xref: Orphanet:206704 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369787,7 +369513,6 @@ subset: ordo_group_of_disorders {source="Orphanet:206707"} synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707] synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -xref: GARD:20367 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.2 {source="Orphanet:206707", source="Orphanet:206707/attributed", source="Orphanet:206707/ntbt"} xref: Orphanet:206707 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369799,7 +369524,6 @@ is_obsolete: true id: MONDO:0016116 name: obsolete generalized bulbospinal muscular atrophy subset: ordo_group_of_disorders {source="Orphanet:206710"} -xref: GARD:20368 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.2 {source="Orphanet:206710", source="Orphanet:206710/attributed", source="Orphanet:206710/ntbt"} xref: Orphanet:206710 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369813,7 +369537,6 @@ name: obsolete muscular lipidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206953"} synonym: "lipid storage myopathy" EXACT [Orphanet:206953] -xref: GARD:20369 {source="MONDO:obsoleteEquivalent"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206953 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369827,7 +369550,6 @@ comment: Reason of obsoletion: grouping class - MONDO:excludeGrouping. Term to c subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206959"} synonym: "glycogen storage myopathy" EXACT [Orphanet:206959] -xref: GARD:20370 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:206959", source="Orphanet:206959/attributed", source="Orphanet:206959/ntbt"} xref: NANDO:1200823 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:206959 {source="MONDO:obsoleteEquivalent"} @@ -369867,7 +369589,6 @@ id: MONDO:0016121 name: obsolete congenital myotonia subset: ordo_group_of_disorders {source="Orphanet:206973"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20373 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.1 {source="Orphanet:206973/ntbt", source="Orphanet:206973/inclusion", source="Orphanet:206973"} xref: icd11.foundation:1916703439 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:206973"} xref: Orphanet:206973 {source="MONDO:obsoleteEquivalent"} @@ -369909,7 +369630,6 @@ name: obsolete muscular tumor comment: Reason of obsoletion: out of scope - MONDO:excludeGrouping. Term to consider: muscle cancer'-MONDO:0005864\n\nEditor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206982"} -xref: GARD:20375 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206982 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0016105 {source="Orphanet:206982", source="https://orcid.org/0000-0001-5208-3432"} ! acquired skeletal muscle disease property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369929,7 +369649,6 @@ consider: MONDO:0016105 id: MONDO:0016125 name: obsolete infectious, fungal or parasitic myopathy subset: ordo_group_of_disorders {source="Orphanet:206988"} -xref: GARD:20376 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M60.0 {source="Orphanet:206988", source="Orphanet:206988/e"} xref: Orphanet:206988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -370057,7 +369776,6 @@ id: MONDO:0016131 name: obsolete spinal muscular atrophy associated with central nervous system anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207012"} -xref: GARD:20381 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207012 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -370066,7 +369784,6 @@ id: MONDO:0016132 name: obsolete rare hereditary disease with peripheral neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207015"} -xref: GARD:12733 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207015 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370078,7 +369795,6 @@ id: MONDO:0016133 name: obsolete rare hereditary metabolic disease with peripheral neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207018"} -xref: GARD:20382 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207018 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370090,7 +369806,6 @@ id: MONDO:0016134 name: obsolete rare hereditary systemic disease with peripheral neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207021"} -xref: GARD:20383 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207021 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370102,7 +369817,6 @@ id: MONDO:0016135 name: obsolete rare hereditary neurologic disease with peripheral neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207025"} -xref: GARD:20384 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207025 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -370114,7 +369828,6 @@ id: MONDO:0016136 name: obsolete cerebellar ataxia with peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: cerebellar ataxia' subset: ordo_group_of_disorders {source="Orphanet:207028"} -xref: GARD:20385 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.2 {source="Orphanet:207028/specific", source="Orphanet:207028/e", source="Orphanet:207028"} xref: Orphanet:207028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -370128,7 +369841,6 @@ name: obsolete acute and subacute inflammatory demyelinating polyneuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired peripheral neuropathy' subset: ordo_group_of_disorders {source="Orphanet:207038"} synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:207038] -xref: GARD:20386 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370140,7 +369852,6 @@ id: MONDO:0016138 name: obsolete malignant lymphoma with peripheral neuropathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:207046"} -xref: GARD:20387 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207046 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -370324,7 +370035,6 @@ id: MONDO:0016149 name: obsolete qualitative or quantitative defects of merosin subset: ordo_group_of_disorders {source="Orphanet:207094"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20396 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207094 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370336,7 +370046,6 @@ id: MONDO:0016150 name: obsolete qualitative or quantitative defects of integrin alpha-7 subset: ordo_group_of_disorders {source="Orphanet:207098"} synonym: "integrinopathy" EXACT [Orphanet:207098] -xref: GARD:20397 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207098 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370365,7 +370074,6 @@ id: MONDO:0016152 name: obsolete qualitative or quantitative defects of calpain subset: ordo_group_of_disorders {source="Orphanet:207104"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20399 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207104 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370393,7 +370101,6 @@ id: MONDO:0016154 name: obsolete qualitative or quantitative defects of myotubularin subset: ordo_group_of_disorders {source="Orphanet:207110"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20401 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207110 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370440,7 +370147,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016157 name: obsolete qualitative or quantitative defects of fukutin subset: ordo_group_of_disorders {source="Orphanet:207122"} -xref: GARD:20404 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:207122 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370741,7 +370447,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "CADP" EXACT ABBREVIATION [Orphanet:208974] synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern] -xref: GARD:20409 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:208974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370754,7 +370459,6 @@ name: obsolete chronic polyradiculoneuropathy def: "OBSOLETE. Chronic form of polyradiculoneuropathy." [MONDO:patterns/chronic] subset: ordo_group_of_disorders {source="Orphanet:208978"} synonym: "polyradiculoneuropathy, chronic" EXACT [MONDO:patterns/chronic] -xref: GARD:20410 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G61.8 {source="Orphanet:208978/ntbt", source="Orphanet:208978"} xref: Orphanet:208978 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -370783,7 +370487,6 @@ def: "OBSOLETE. An instance of sensory ganglionopathy that is acquired during th subset: ordo_group_of_disorders {source="Orphanet:208984"} synonym: "acquired sensory ganglionopathy" EXACT [MONDO:patterns/acquired] synonym: "acquired sensory neuronopathy" EXACT [Orphanet:208984] -xref: GARD:20412 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:208984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370795,7 +370498,6 @@ id: MONDO:0016173 name: obsolete non-paraneoplastic sensory ganglionopathy subset: ordo_disorder {source="Orphanet:208989"} synonym: "non-paraneoplastic sensory neuronopathy" EXACT [Orphanet:208989] -xref: GARD:20413 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:208989 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370807,7 +370509,6 @@ id: MONDO:0016174 name: obsolete paraneoplastic sensory ganglionopathy subset: ordo_disorder {source="Orphanet:208999"} synonym: "paraneoplastic sensory neuronopathy" EXACT [Orphanet:208999] -xref: GARD:20414 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:208999 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370870,7 +370571,6 @@ id: MONDO:0016177 name: obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inflammatory disease' subset: ordo_group_of_disorders {source="Orphanet:209007"} -xref: GARD:20416 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209007 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370881,7 +370581,6 @@ consider: MONDO:0021166 id: MONDO:0016178 name: obsolete peripheral neuropathy associated with monoclonal gammopathy subset: ordo_group_of_disorders {source="Orphanet:209010"} -xref: GARD:20417 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209010 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370891,7 +370590,6 @@ is_obsolete: true id: MONDO:0016179 name: obsolete acquired amyloid peripheral neuropathy subset: ordo_group_of_disorders {source="Orphanet:209013"} -xref: GARD:20418 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209013 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370903,7 +370601,6 @@ id: MONDO:0016180 name: obsolete hematological disease associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease subset: ordo_group_of_disorders {source="Orphanet:209016"} -xref: GARD:20419 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209016 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370915,7 +370612,6 @@ id: MONDO:0016181 name: obsolete solid tumor associated with an acquired peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neoplasm subset: ordo_group_of_disorders {source="Orphanet:209019"} -xref: GARD:20420 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209019 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370927,7 +370623,6 @@ id: MONDO:0016182 name: obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase subset: ordo_group_of_disorders {source="Orphanet:209024"} synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [Orphanet:209024] -xref: GARD:20421 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209024 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370940,7 +370635,6 @@ is_obsolete: true id: MONDO:0016183 name: obsolete qualitative or quantitative defects of protein glycosyltransferase-like subset: ordo_group_of_disorders {source="Orphanet:209027"} -xref: GARD:20422 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209027 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371139,7 +370833,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016196 name: obsolete qualitative or quantitative defects of emerin subset: ordo_group_of_disorders {source="Orphanet:209188"} -xref: GARD:20435 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209188 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371197,7 +370890,6 @@ id: MONDO:0016200 name: obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase subset: ordo_group_of_disorders {source="Orphanet:209203"} synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1, Orphanet:209203] -xref: GARD:20439 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209203 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371208,7 +370900,6 @@ is_obsolete: true id: MONDO:0016201 name: obsolete qualitative or quantitative defects of myotilin subset: ordo_group_of_disorders {source="Orphanet:209224"} -xref: GARD:20440 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:209224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371643,7 +371334,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016221 name: obsolete temporomandibular joint anomaly subset: ordo_group_of_disorders {source="Orphanet:210581"} -xref: GARD:20451 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:210581 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371706,7 +371396,6 @@ def: "OBSOLETE. Autosomal dominant form of proximal spinal muscular atrophy." [M subset: ordo_group_of_disorders {source="Orphanet:211037"} subset: otar {source="MONDO:OTAR"} synonym: "proximal spinal muscular atrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:20454 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.1 {source="Orphanet:211037/attributed", source="Orphanet:211037/ntbt", source="Orphanet:211037"} xref: Orphanet:211037 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -371784,7 +371473,6 @@ def: "OBSOLETE. Any of the forms of vascular neoplasm that have a rare incidence subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211237"} synonym: "rare vascular neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:20458 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:211237 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -371796,7 +371484,6 @@ name: obsolete hereditary vascular anomaly def: "OBSOLETE. An instance of vascular anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:211240"} synonym: "genetic vascular anomaly" EXACT [MONDO:patterns/genetic] -xref: GARD:20459 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:211240 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371809,7 +371496,6 @@ is_obsolete: true id: MONDO:0016230 name: obsolete simple vascular malformation subset: ordo_group_of_disorders {source="Orphanet:211243"} -xref: GARD:20460 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:211243 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371837,7 +371523,6 @@ id: MONDO:0016232 name: obsolete rare venous malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211252"} -xref: GARD:20462 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q27.8 {source="Orphanet:211252/ntbt", source="Orphanet:211252"} xref: Orphanet:211252 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -371851,7 +371536,6 @@ id: MONDO:0016233 name: obsolete rare lymphatic system malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211255"} -xref: GARD:20463 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1200881 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:211255 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -371867,7 +371551,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211266"} synonym: "rare arteriovenous hemangioma/malformation" EXACT [MONDO:patterns/rare] synonym: "rare arteriovenous malformation" EXACT [MONDO:patterns/rare] -xref: GARD:20464 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q27.3 {source="Orphanet:211266", source="Orphanet:211266/e"} xref: MedDRA:10003193 {source="Orphanet:211266", source="Orphanet:211266/e"} xref: MESH:D001165 {source="MONDO:relatedTo", source="Orphanet:211266", source="Orphanet:211266/e"} @@ -371882,7 +371565,6 @@ name: obsolete complex vascular malformation with associated anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular anomaly' subset: ordo_group_of_disorders {source="Orphanet:211277"} synonym: "hemangiolymphangioma" EXACT [Orphanet:211277] -xref: GARD:20465 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:211277 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -372242,7 +371924,6 @@ name: obsolete rare adenocarcinoma of the breast def: "OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence." [MONDO:patterns/rare] subset: ordo_disorder {source="Orphanet:213528"} synonym: "rare breast adenocarcinoma" EXACT [MONDO:patterns/rare] -xref: GARD:12773 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C50.0 {source="Orphanet:213528", source="Orphanet:213528/btnt"} xref: ICD10CM:C50.1 {source="Orphanet:213528", source="Orphanet:213528/btnt"} xref: ICD10CM:C50.2 {source="MONDO:relatedTo", source="Orphanet:213528", source="Orphanet:213528/btnt"} @@ -372275,7 +371956,6 @@ synonym: "rare cancer of uterus" EXACT [Orphanet:213564] synonym: "rare malignant tumor of uterus" EXACT [Orphanet:213564] synonym: "rare uterine cancer" EXACT [MONDO:patterns/rare] synonym: "rare uterine malignant tumor" EXACT [Orphanet:213564] -xref: GARD:20469 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:213564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -372287,7 +371967,6 @@ name: obsolete rare cancer of corpus uteri subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213569"} synonym: "rare malignant tumor of corpus uteri" EXACT [Orphanet:213569] -xref: GARD:20470 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:213569 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -372296,7 +371975,6 @@ replaced_by: MONDO:0004992 [Term] id: MONDO:0016254 name: obsolete rare variants of adenocarcinoma of the corpus uteri -xref: GARD:20471 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C54.1 {source="Orphanet:213574", source="Orphanet:213574/ntbt"} xref: Orphanet:213574 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 @@ -372839,7 +372517,6 @@ subset: ordo_group_of_disorders {source="Orphanet:213761"} synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare, Orphanet:213761] synonym: "rare cervical malignant tumor" EXACT [Orphanet:213761] synonym: "rare malignant tumor of cervix uteri" EXACT [Orphanet:213761] -xref: GARD:20486 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:213761 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -373074,7 +372751,6 @@ replaced_by: MONDO:0006133 [Term] id: MONDO:0016287 name: obsolete adenoid basal carcinoma of the cervix uteri -xref: GARD:20499 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6924" xsd:anyURI is_obsolete: true @@ -373633,7 +373309,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217074"} synonym: "rare exocrine pancreatic carcinoma" EXACT [MONDO:patterns/rare] synonym: "rare pancreatic carcinoma" EXACT [Orphanet:217074] -xref: GARD:20511 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10033604 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MedDRA:10033609 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MESH:D010190 {source="Orphanet:217074", source="Orphanet:217074/e"} @@ -373761,7 +373436,6 @@ id: MONDO:0016320 name: obsolete rare hereditary thrombophilia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217454"} -xref: GARD:20515 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D68.5 {source="Orphanet:217454/attributed", source="Orphanet:217454/ntbt", source="Orphanet:217454"} xref: Orphanet:217454 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -373844,7 +373518,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:217572"} synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] -xref: GARD:20519 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:217572/attributed", source="Orphanet:217572/ntbt", source="Orphanet:217572"} xref: Orphanet:217572 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -373857,7 +373530,6 @@ id: MONDO:0016326 name: obsolete lysosomal disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' subset: ordo_group_of_disorders {source="Orphanet:217581"} -xref: GARD:20520 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217581 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -373869,7 +373541,6 @@ id: MONDO:0016327 name: obsolete mitochondrial disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:217587"} -xref: GARD:20521 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217587 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -373881,7 +373552,6 @@ id: MONDO:0016328 name: obsolete fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' subset: ordo_group_of_disorders {source="Orphanet:217591"} -xref: GARD:20522 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217591 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -373976,7 +373646,6 @@ id: MONDO:0016334 name: obsolete neuromuscular disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neuromuscular disease' subset: ordo_group_of_disorders {source="Orphanet:217610"} -xref: GARD:20526 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217610 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -373988,7 +373657,6 @@ id: MONDO:0016335 name: obsolete mitochondrial disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:217613"} -xref: GARD:20527 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217613 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -374000,7 +373668,6 @@ id: MONDO:0016336 name: obsolete fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disorder of fatty acid oxidation and ketogenesis' subset: ordo_group_of_disorders {source="Orphanet:217616"} -xref: GARD:20528 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217616 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -374012,7 +373679,6 @@ id: MONDO:0016337 name: obsolete syndrome associated with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:217619"} -xref: GARD:20529 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217619 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/324" xsd:anyURI @@ -374071,7 +373737,6 @@ id: MONDO:0016341 name: obsolete lysosomal disease with restrictive cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' subset: ordo_group_of_disorders {source="Orphanet:217638"} -xref: GARD:20533 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217638 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -374114,7 +373779,6 @@ id: MONDO:0016343 name: obsolete unclassified cardiomyopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217678"} -xref: GARD:20534 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217678 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2824" xsd:anyURI @@ -374194,7 +373858,6 @@ def: "OBSOLETE. A rare form of cardiac rhythm disease." [https://orcid.org/0000- subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:218436"} synonym: "rare cardiac rhythm disease" EXACT [MONDO:patterns/rare] -xref: GARD:20536 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:218436 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -374204,7 +373867,6 @@ replaced_by: MONDO:0007263 id: MONDO:0016348 name: obsolete non-genetic cardiac rhythm disease subset: ordo_group_of_disorders {source="Orphanet:218439"} -xref: GARD:20537 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:218439 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -374295,7 +373957,6 @@ id: MONDO:0016352 name: obsolete idiopathic inherited hypercalciuria subset: ordo_disorder {source="Orphanet:2197"} synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197] -xref: GARD:16587 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"} xref: Orphanet:2197 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -374365,7 +374026,6 @@ name: obsolete semilobar holoprosencephaly def: "OBSOLETE. Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [Orphanet:220386] subset: ordo_subtype_of_a_disorder {source="Orphanet:220386"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17131 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.2 {source="Orphanet:220386", source="Orphanet:220386/attributed", source="Orphanet:220386/ntbt"} xref: Orphanet:220386 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -374491,7 +374151,6 @@ synonym: "isolated hereditary giant platelet disorder" EXACT CLINGEN_LABEL [] synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452] synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452] synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452] -xref: GARD:20539 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.1 {source="Orphanet:220452", source="Orphanet:220452/attributed", source="Orphanet:220452/ntbt"} xref: icd11.foundation:2069754587 {source="Orphanet:220452", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:220452 {source="MONDO:obsoleteEquivalent"} @@ -374540,7 +374199,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:220489"} synonym: "iron overload disease" BROAD [Orphanet:220489] synonym: "rare hereditary hemochromatosis" EXACT [MONDO:patterns/rare] -xref: GARD:20540 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.1 {source="Orphanet:220489/attributed", source="Orphanet:220489/ntbt"} xref: ICD9:275.01 {source="EFO:0006513"} xref: NCIT:C84764 {source="EFO:0006513", source="MONDO:directSiblingOf"} @@ -374844,7 +374502,6 @@ intersection_of: disease_has_location UBERON:0034713 ! cranial neuron projection id: MONDO:0016375 name: obsolete acquired peripheral movement disorder subset: ordo_group_of_disorders {source="Orphanet:221114"} -xref: GARD:20543 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:221114 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -375290,7 +374947,6 @@ id: MONDO:0016397 name: obsolete lysosomal disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: lysosomal storage disease' subset: ordo_group_of_disorders {source="Orphanet:225681"} -xref: GARD:20550 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225681 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375302,7 +374958,6 @@ id: MONDO:0016398 name: obsolete peroxisomal disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: peroxisomal disease' subset: ordo_group_of_disorders {source="Orphanet:225686"} -xref: GARD:20551 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225686 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375314,7 +374969,6 @@ id: MONDO:0016399 name: obsolete amino acid or protein metabolism disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:225689"} -xref: GARD:20552 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225689 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375326,7 +374980,6 @@ id: MONDO:0016400 name: obsolete metal transport or utilization disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:225692"} -xref: GARD:20553 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225692 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 @@ -375339,7 +374992,6 @@ id: MONDO:0016401 name: obsolete energy metabolism disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn disorder of energy metabolism' subset: ordo_group_of_disorders {source="Orphanet:225696"} -xref: GARD:20554 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225696 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375351,7 +375003,6 @@ id: MONDO:0016402 name: obsolete mitochondrial disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:225700"} -xref: GARD:20555 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225700 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375363,7 +375014,6 @@ id: MONDO:0016403 name: obsolete mitochondrial disease with peripheral neuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:225703"} -xref: GARD:20556 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225703 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375375,7 +375025,6 @@ id: MONDO:0016404 name: obsolete metabolic neurotransmission anomaly with epilepsy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:225707"} -xref: GARD:20557 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225707 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -375384,7 +375033,6 @@ id: MONDO:0016405 name: obsolete sterol metabolism disorder with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: MONDO:0019256 subset: ordo_group_of_disorders {source="Orphanet:225710"} -xref: GARD:20558 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225710 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -375396,7 +375044,6 @@ id: MONDO:0016406 name: obsolete other metabolic disease with epilepsy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:225713"} -xref: GARD:20559 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:225713 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -375453,7 +375100,6 @@ name: obsolete primary congenital hypothyroidism def: "OBSOLETE. Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:226295] subset: ordo_group_of_disorders {source="Orphanet:226295"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20561 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E03.0 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} xref: ICD10CM:E03.1 {source="Orphanet:226295/attributed", source="Orphanet:226295/ntbt", source="Orphanet:226295"} xref: Orphanet:226295 {source="MONDO:obsoleteEquivalent"} @@ -375844,7 +375490,6 @@ replaced_by: MONDO:0005706 id: MONDO:0016428 name: obsolete multiple sclerosis variant subset: ordo_group_of_disorders {source="Orphanet:228145"} -xref: GARD:20571 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:228145 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -375990,7 +375635,6 @@ name: obsolete acquired dermis elastic tissue disorder def: "OBSOLETE. An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_group_of_disorders {source="Orphanet:228218"} synonym: "acquired dermis elastic tissue disorder" EXACT [MONDO:patterns/acquired] -xref: GARD:20575 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:228218 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -376002,7 +375646,6 @@ id: MONDO:0016435 name: obsolete acquired dermis elastic tissue disorder with decreased elastic tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' subset: ordo_group_of_disorders {source="Orphanet:228221"} -xref: GARD:20576 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:228221 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -376014,7 +375657,6 @@ id: MONDO:0016436 name: obsolete acquired dermis elastic tissue disorder with increased elastic tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired dermis elastic tissue disorder' subset: ordo_group_of_disorders {source="Orphanet:228224"} -xref: GARD:20577 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:228224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -377193,7 +376835,6 @@ def: "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies resu comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' subset: ordo_group_of_disorders {source="Orphanet:231230"} synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230] -xref: GARD:20607 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D58.2 {source="Orphanet:231230", source="Orphanet:231230/attributed", source="Orphanet:231230/ntbt"} xref: Orphanet:231230 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -377269,7 +376910,6 @@ name: obsolete beta-thalassemia with other manifestations def: "OBSOLETE. Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder." [Orphanet:231386] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' subset: ordo_group_of_disorders {source="Orphanet:231386"} -xref: GARD:20610 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D58.2 {source="Orphanet:231386", source="Orphanet:231386/attributed", source="Orphanet:231386/ntbt"} xref: Orphanet:231386 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -377283,7 +376923,6 @@ name: obsolete variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231413"} synonym: "variant of GBS" EXACT [Orphanet:231413] synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413] -xref: GARD:20611 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G61.0 {source="Orphanet:231413", source="Orphanet:231413/ntbt"} xref: Orphanet:231413 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377299,7 +376938,6 @@ name: obsolete regional variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231416"} synonym: "regional variant of GBS" EXACT [Orphanet:231416] synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416] -xref: GARD:20612 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G61.0 {source="Orphanet:231416", source="Orphanet:231416/ntbt"} xref: Orphanet:231416 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377315,7 +376953,6 @@ name: obsolete functional variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231419"} synonym: "functional variant of GBS" EXACT [Orphanet:231419] synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419] -xref: GARD:20613 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G61.0 {source="Orphanet:231419/ntbt", source="Orphanet:231419"} xref: Orphanet:231419 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377580,7 +377217,6 @@ name: obsolete rare surgically correctable form of primary aldosteronism def: "OBSOLETE. Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia." [Orphanet:231637] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:231637"} -xref: GARD:20623 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:231637 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -377592,7 +377228,6 @@ id: MONDO:0016508 name: obsolete rare non surgically correctable form of primary aldosteronism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:231641"} -xref: GARD:20624 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:231641 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -377692,7 +377327,6 @@ id: MONDO:0016513 name: obsolete alpha-thalassemia-related diseases def: "OBSOLETE. This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*" [Orphanet:232288] subset: ordo_group_of_disorders {source="Orphanet:232288"} -xref: GARD:20627 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D56.0 {source="Orphanet:232288", source="Orphanet:232288/attributed", source="Orphanet:232288/ntbt", source="MONDO:directSiblingOf"} xref: Orphanet:232288 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377778,7 +377412,6 @@ def: "OBSOLETE. Rare genetic vascular disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:233655"} synonym: "rare genetic vascular disease" EXACT [] -xref: GARD:20628 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:233655 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -377793,7 +377426,6 @@ subset: ordo_group_of_disorders {source="Orphanet:2338"} synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338] synonym: "isolated punctate PPK" EXACT [Orphanet:2338] synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: GARD:18768 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:2338", source="Orphanet:2338/attributed", source="Orphanet:2338/ntbt"} xref: Orphanet:2338 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377819,7 +377451,6 @@ synonym: "congenital fused cervical segments" EXACT [Orphanet:2345] synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345] synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345] synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated] -xref: GARD:10280 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q76.1 {source="Orphanet:2345", source="Orphanet:2345/specific", source="Orphanet:2345/e"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -377905,7 +377536,6 @@ id: MONDO:0016524 name: obsolete congenital vascular bone syndrome def: "OBSOLETE. An alteration in limb growth caused by congenital vascular malformations in childhood." [PMID:8305978] subset: ordo_group_of_disorders {source="Orphanet:235832"} -xref: GARD:20629 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:825559961 {source="MONDO:obsoleteEquivalent", source="Orphanet:235832", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:235832 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -378223,7 +377853,6 @@ def: "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposit subset: ordo_disorder {source="Orphanet:238505"} subset: otar {source="MONDO:OTAR"} synonym: "CD27 deficiency" EXACT [Orphanet:238505] -xref: GARD:17174 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D47.9 {source="Orphanet:238505/attributed", source="Orphanet:238505/ntbt", source="Orphanet:238505"} xref: NANDO:2200735 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:238505 {source="MONDO:obsoleteEquivalent"} @@ -378783,7 +378412,6 @@ subset: ordo_group_of_disorders {source="Orphanet:240371"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with obesity (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic obesity (disease)" EXACT [MONDO:patterns/syndromic] -xref: GARD:20650 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:240371 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -379121,7 +378749,6 @@ subset: ordo_group_of_disorders {source="Orphanet:2443"} synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [Orphanet:2443] synonym: "OXPHOS disease due to nDNA anomalies" EXACT [Orphanet:2443] synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [Orphanet:2443] -xref: GARD:18771 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:2443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -379133,7 +378760,6 @@ id: MONDO:0016579 name: obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis subset: ordo_disorder {source="Orphanet:244305"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17186 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:244305 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019705 {source="Orphanet:244305", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary bone dysplasia with defective bone mineralization property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379387,7 +379013,6 @@ name: obsolete progressive cerebello-cerebral atrophy subset: ordo_disorder {source="Orphanet:247198"} subset: otar {source="MONDO:OTAR"} synonym: "PCCA" EXACT ABBREVIATION [Orphanet:247198] -xref: GARD:17187 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:247198 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -379423,7 +379048,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016592 name: obsolete non-hereditary degenerative ataxia subset: ordo_group_of_disorders {source="Orphanet:247239"} -xref: GARD:20655 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1257393361 {source="MONDO:obsoleteEquivalent", source="Orphanet:247239", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:247239 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000437 {source="Orphanet:247239", source="https://orcid.org/0000-0001-5208-3432"} ! cerebellar ataxia @@ -379568,7 +379192,6 @@ subset: ordo_disorder {source="Orphanet:247511"} subset: otar {source="MONDO:OTAR"} synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511] synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:17189 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D75.1 {source="Orphanet:247511/attributed", source="Orphanet:247511/ntbt", source="Orphanet:247511"} xref: Orphanet:247511 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -379722,7 +379345,6 @@ def: "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of subset: ordo_subtype_of_a_disorder {source="Orphanet:247638"} synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638] synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638] -xref: GARD:20662 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247638", source="Orphanet:247638/attributed", source="Orphanet:247638/ntbt"} xref: Orphanet:247638 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -380099,7 +379721,6 @@ def: "OBSOLETE. Any of the forms of deficiency anemia that have a rare incidence subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248293"} synonym: "rare deficiency anemia" EXACT [MONDO:patterns/rare] -xref: GARD:20668 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248293 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -380157,7 +379778,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248308"} synonym: "rare bleeding disorder" EXACT [Orphanet:248308] synonym: "rare coagulopathy" EXACT [Orphanet:248308] -xref: GARD:20671 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248308 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -380170,7 +379790,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:248315"} synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [Orphanet:248315] synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [Orphanet:248315] -xref: GARD:20672 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248315 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380188,7 +379807,6 @@ synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" synonym: "rare coagulopathy due to a platelet anomaly" EXACT [Orphanet:248326] synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] -xref: GARD:20673 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248326 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380228,7 +379846,6 @@ synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thromboc synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [Orphanet:248347] synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] -xref: GARD:20675 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380240,7 +379857,6 @@ id: MONDO:0016632 name: obsolete thrombotic disorder due to a coagulation factors defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248358"} -xref: GARD:20676 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248358 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380253,7 +379869,6 @@ id: MONDO:0016633 name: obsolete thrombotic disorder due to a constitutional coagulation factors defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248361"} -xref: GARD:20677 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248361 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380267,7 +379882,6 @@ def: "OBSOLETE. An instance of rare thrombotic disorder due to a coagulation fac subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248365"} synonym: "acquired rare thrombotic disorder due to a coagulation factors defect" EXACT [MONDO:patterns/acquired] -xref: GARD:20678 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248365 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380279,7 +379893,6 @@ id: MONDO:0016635 name: obsolete thrombotic disorder due to a platelet anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248368"} -xref: GARD:20679 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248368 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380292,7 +379905,6 @@ id: MONDO:0016636 name: obsolete thrombotic disorder due to a constitutional platelet anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248401"} -xref: GARD:20680 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248401 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380304,7 +379916,6 @@ id: MONDO:0016637 name: obsolete thrombotic disorder due to an acquired platelet anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248404"} -xref: GARD:20681 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:248404 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380487,7 +380098,6 @@ id: MONDO:0016645 name: obsolete rare neoplastic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:250908"} -xref: GARD:22535 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:250908 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -380518,7 +380128,6 @@ def: "OBSOLETE. A rare type of Stickler syndrome characterized by moderate to se subset: ordo_subtype_of_a_disorder {source="Orphanet:250984"} subset: otar {source="MONDO:OTAR"} synonym: "Stickler syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:17203 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.5 {source="Orphanet:250984/attributed", source="Orphanet:250984/ntbt", source="Orphanet:250984"} xref: Orphanet:250984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -380974,7 +380583,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016665 name: obsolete unclassified vasculitis subset: ordo_disorder {source="Orphanet:251328"} -xref: GARD:20698 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M31.8 {source="Orphanet:251328/ntbt", source="Orphanet:251328"} xref: Orphanet:251328 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -381002,7 +380610,6 @@ id: MONDO:0016667 name: obsolete sickle cell disease associated with an other hemoglobin anomaly subset: ordo_group_of_disorders {source="Orphanet:251355"} synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355] -xref: GARD:12459 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D57.2 {source="Orphanet:251355", source="Orphanet:251355/specific", source="Orphanet:251355/e"} xref: Orphanet:251355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -381261,7 +380868,6 @@ is_a: MONDO:0019755 {source="MONDO:0018880-obsoleted"} ! developmental defect du id: MONDO:0016678 name: obsolete maternal disease-related embryofetopathy subset: ordo_group_of_disorders {source="Orphanet:251535"} -xref: GARD:20702 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251535 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -381275,7 +380881,6 @@ def: "OBSOLETE. Any of the forms of neuroepithelial neoplasm that have a rare in subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:251558"} synonym: "rare neuroepithelial neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:20703 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251558 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -381916,7 +381521,6 @@ subset: ordo_group_of_disorders {source="Orphanet:251651"} subset: otar {source="MONDO:OTAR"} synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651] synonym: "mixed oligodendroglial and astrocytic tumour" EXACT OMO:0003005 [] -xref: GARD:20712 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251651 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -381998,7 +381602,6 @@ id: MONDO:0016704 name: obsolete glial tumor of neuroepithelial tissue with unknown origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glioma subset: ordo_group_of_disorders {source="Orphanet:251668"} -xref: GARD:20713 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251668 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -382102,7 +381705,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10635/astrob id: MONDO:0016708 name: obsolete embryonal tumor of neuroepithelial tissue subset: ordo_group_of_disorders {source="Orphanet:251852"} -xref: GARD:20716 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251852 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382399,7 +382001,6 @@ replaced_by: MONDO:0002684 id: MONDO:0016721 name: obsolete pineal tumor of neuroepithelial tissue subset: ordo_group_of_disorders {source="Orphanet:251905"} -xref: GARD:20724 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251905 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382516,7 +382117,6 @@ is_a: MONDO:0021232 {source="MONDO:Redundant", source="NCIT:C92624", source="ONC [Term] id: MONDO:0016725 name: obsolete pineal parenchymal tumor of intermediate differenciation -xref: GARD:10644 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6505" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6651" xsd:anyURI @@ -382529,7 +382129,6 @@ id: MONDO:0016726 name: obsolete neuronal tumor subset: ordo_group_of_disorders {source="Orphanet:251924"} subset: otar {source="MONDO:OTAR"} -xref: GARD:20726 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251924 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382765,7 +382364,6 @@ name: obsolete primary germ cell tumor of central nervous system subset: ordo_group_of_disorders {source="Orphanet:251995"} synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995] synonym: "primary germ cell tumour of CNS" EXACT OMO:0003005 [] -xref: GARD:20732 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:251995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -382929,7 +382527,6 @@ synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet: synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028] synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028] synonym: "primary melanocytic tumour of CNS" EXACT OMO:0003005 [] -xref: GARD:20738 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:252028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -383180,7 +382777,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7191/neurofi id: MONDO:0016756 name: obsolete inherited nervous system cancer-predisposing syndrome subset: ordo_group_of_disorders {source="Orphanet:252190"} -xref: GARD:20742 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:252190 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -383434,7 +383030,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254367"} synonym: "rare lichen planus" EXACT [MONDO:patterns/rare] synonym: "rare LP" EXACT [Orphanet:254367] -xref: GARD:12344 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L43.0 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.1 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.2 {source="Orphanet:254367/btnt", source="Orphanet:254367"} @@ -383455,7 +383050,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254370"} synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [Orphanet:254370] synonym: "rare cutaneous LP" EXACT [Orphanet:254370] -xref: GARD:20744 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L43.0 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.1 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.2 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} @@ -383476,7 +383070,6 @@ name: obsolete rare mucosal lichen planus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254373"} synonym: "rare mucosal LP" EXACT [Orphanet:254373] -xref: GARD:20745 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L43.0 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.2 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} @@ -383804,7 +383397,6 @@ is_a: MONDO:0016779 {source="Orphanet:254534"} ! multiple congenital anomalies d id: MONDO:0016784 name: obsolete gestational trophoblastic disease subset: ordo_group_of_disorders {source="Orphanet:254685"} -xref: GARD:20748 {source="MONDO:obsoleteEquivalent"} xref: ICD9:631 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D031901 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"} xref: NCIT:C4699 {source="ONCOTREE:GTD"} @@ -383901,7 +383493,6 @@ comment: This is a biological anomaly and not a disease. subset: ordo_biological_anomaly {source="Orphanet:254704"} subset: ordo_disorder {source="Orphanet:254704"} synonym: "benign hyperferritinemia" EXACT [Orphanet:254704] -xref: GARD:20751 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254704 {source="MONDO:obsoleteEquivalent"} xref: SCTID:766929007 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383961,7 +383552,6 @@ subset: ordo_group_of_disorders {source="Orphanet:254758"} synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [Orphanet:254758] synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [Orphanet:254758] synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [Orphanet:254758] -xref: GARD:20754 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254758 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -383976,7 +383566,6 @@ subset: ordo_group_of_disorders {source="Orphanet:254767"} synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [Orphanet:254767] synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] -xref: GARD:20755 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254767 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -383991,7 +383580,6 @@ subset: ordo_group_of_disorders {source="Orphanet:254776"} synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [Orphanet:254776] synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [Orphanet:254776] synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [Orphanet:254776] -xref: GARD:20756 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2200524 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:254776 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -384003,7 +383591,6 @@ consider: MONDO:0016387 id: MONDO:0016794 name: obsolete maternally-inherited mitochondrial myopathy subset: ordo_group_of_disorders {source="Orphanet:254788"} -xref: GARD:20757 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.3 {source="Orphanet:254788", source="Orphanet:254788/attributed", source="Orphanet:254788/ntbt"} xref: Orphanet:254788 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384050,7 +383637,6 @@ def: "OBSOLETE. A mitochondrial oxidative phosphorylation disorder in which mito subset: ordo_group_of_disorders {source="Orphanet:254807"} subset: otar {source="MONDO:OTAR"} synonym: "multiple mtDNA deletion syndrome" EXACT [Orphanet:254807] -xref: GARD:20758 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:194083556 {source="Orphanet:254807", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:254807 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384081,7 +383667,6 @@ name: obsolete mitochondrial oxidative phosphorylation disorder with no known me comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:254822"} synonym: "OXPHOS disease with no known mechanism" EXACT [Orphanet:254822] -xref: GARD:20760 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -384138,7 +383723,6 @@ id: MONDO:0016803 name: obsolete unspecified inborn mitochondrial disorder subset: ordo_group_of_disorders {source="Orphanet:254837"} synonym: "unspecified mitochondrial disorder" EXACT [Orphanet:254837] -xref: GARD:20764 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254837 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384152,7 +383736,6 @@ id: MONDO:0016804 name: obsolete exercise intolerance with lactic acidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254843"} -xref: GARD:20765 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254843 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -384161,7 +383744,6 @@ id: MONDO:0016805 name: obsolete isolated oxidative phosphorylation complex disorder subset: ordo_group_of_disorders {source="Orphanet:254846"} synonym: "isolated respiratory chain complex disorder" EXACT [Orphanet:254846] -xref: GARD:20766 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:254846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384346,7 +383928,6 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241] synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241] -xref: GARD:17238 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G31.8 {source="Orphanet:255241/attributed", source="Orphanet:255241/ntbt", source="Orphanet:255241"} xref: Orphanet:255241 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384365,7 +383946,6 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249] synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249] -xref: GARD:17239 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G31.8 {source="Orphanet:255249", source="Orphanet:255249/attributed", source="Orphanet:255249/ntbt"} xref: Orphanet:255249 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -386063,7 +385643,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016891 name: obsolete partial deletion of the short arm of chromosome 9 subset: ordo_group_of_disorders {source="Orphanet:261929"} -xref: GARD:20813 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:924171107 {source="MONDO:obsoleteEquivalent", source="Orphanet:261929", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:261929 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged @@ -386213,7 +385792,6 @@ def: "OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuro subset: ordo_group_of_disorders {source="Orphanet:262"} subset: otar {source="MONDO:OTAR"} synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262] -xref: GARD:18686 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.0 {source="Orphanet:262/inclusion", source="Orphanet:262/ntbt", source="Orphanet:262"} xref: Orphanet:262 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -388366,7 +387944,6 @@ name: obsolete complex chromosomal rearrangement comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263708"} -xref: GARD:20906 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:263708 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -388378,7 +387955,6 @@ name: obsolete X chromosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263714"} -xref: GARD:20907 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:263714 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -388390,7 +387966,6 @@ id: MONDO:0017000 name: obsolete X chromosome number anomaly with female phenotype subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263717"} -xref: GARD:20908 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:263717 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -388399,7 +387974,6 @@ id: MONDO:0017001 name: obsolete X chromosome number anomaly with male phenotype subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263720"} -xref: GARD:20909 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:263720 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -388409,7 +387983,6 @@ name: obsolete polysomy of X chromosome comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263723"} -xref: GARD:20910 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:263723 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -388461,7 +388034,6 @@ name: obsolete Y chromosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263746"} -xref: GARD:20913 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1632180154 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:263746"} xref: Orphanet:263746 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -388475,7 +388047,6 @@ name: obsolete X and Y chromosomal anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263749"} -xref: GARD:20914 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q98.8 {source="Orphanet:263749/attributed", source="Orphanet:263749/ntbt", source="Orphanet:263749"} xref: Orphanet:263749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -388580,7 +388151,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263793"} synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793] synonym: "UPD(X)" EXACT [Orphanet:263793] -xref: GARD:20918 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:263793/attributed", source="Orphanet:263793/ntbt", source="Orphanet:263793"} xref: Orphanet:263793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -388678,7 +388248,6 @@ name: obsolete primary interstitial lung disease specific to childhood due to al comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264670"} synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [Orphanet:264670] -xref: GARD:20922 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264670 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388691,7 +388260,6 @@ name: obsolete primary interstitial lung disease specific to childhood due to al comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264683"} synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [Orphanet:264683] -xref: GARD:20923 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264683 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388736,7 +388304,6 @@ name: obsolete secondary interstitial lung disease specific to childhood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264699"} synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [Orphanet:264699] -xref: GARD:20926 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264699 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388749,7 +388316,6 @@ name: obsolete secondary interstitial lung disease specific to childhood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264704"} synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [Orphanet:264704] -xref: GARD:20927 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264704 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388762,7 +388328,6 @@ name: obsolete secondary interstitial lung disease specific to childhood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264709"} synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [Orphanet:264709] -xref: GARD:20928 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264709 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388775,7 +388340,6 @@ name: obsolete secondary interstitial lung disease specific to childhood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264714"} synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [Orphanet:264714] -xref: GARD:20929 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264714 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388788,7 +388352,6 @@ name: obsolete secondary interstitial lung disease specific to childhood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264719"} synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [Orphanet:264719] -xref: GARD:20930 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264719 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388829,7 +388392,6 @@ id: MONDO:0017027 name: obsolete primary interstitial lung disease specific to adulthood subset: ordo_group_of_disorders {source="Orphanet:264740"} synonym: "primary ILD specific to adulthood" EXACT [Orphanet:264740] -xref: GARD:20932 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264740 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388842,7 +388404,6 @@ name: obsolete secondary interstitial lung disease specific to adulthood associa comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264745"} synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [Orphanet:264745] -xref: GARD:20933 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264745 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388873,7 +388434,6 @@ id: MONDO:0017030 name: obsolete interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264757"} synonym: "ILD in childhood and adulthood" EXACT [Orphanet:264757] -xref: GARD:20934 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264757 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388885,7 +388445,6 @@ id: MONDO:0017031 name: obsolete primary interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264762"} synonym: "primary ILD in childhood and adulthood" EXACT [Orphanet:264762] -xref: GARD:20935 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264762 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388898,7 +388457,6 @@ name: obsolete primary interstitial lung disease in childhood and adulthood due comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264930"} synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [Orphanet:264930] -xref: GARD:20936 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264930 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388911,7 +388469,6 @@ name: obsolete primary interstitial lung disease in childhood and adulthood due comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264935"} synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [Orphanet:264935] -xref: GARD:20937 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264935 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388923,7 +388480,6 @@ id: MONDO:0017034 name: obsolete secondary interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264944"} synonym: "secondary ILD in childhood and adulthood" EXACT [Orphanet:264944] -xref: GARD:20938 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264944 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388936,7 +388492,6 @@ name: obsolete secondary interstitial lung disease in childhood and adulthood as comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264949"} synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [Orphanet:264949] -xref: GARD:20939 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264949 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388963,7 +388518,6 @@ name: obsolete secondary interstitial lung disease in childhood and adulthood as comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264968"} synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [Orphanet:264968] -xref: GARD:20940 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264968 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388976,7 +388530,6 @@ name: obsolete secondary interstitial lung disease in childhood and adulthood as comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264973"} synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [Orphanet:264973] -xref: GARD:20941 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264973 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -389009,7 +388562,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017040 name: obsolete exposure-related interstitial lung disease subset: ordo_group_of_disorders {source="Orphanet:264984"} -xref: GARD:20943 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -389220,7 +388772,6 @@ def: "OBSOLETE. Hypomyelination neuropathy-arthrogryposis syndrome is a rare, ge subset: ordo_disorder {source="Orphanet:2680"} subset: otar {source="MONDO:OTAR"} synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680] -xref: GARD:16604 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:2680 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -389396,7 +388947,6 @@ id: MONDO:0017057 name: obsolete hereditary thrombocytopenia with normal platelets subset: ordo_disorder {source="Orphanet:268322"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17267 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.4 {source="Orphanet:268322", source="Orphanet:268322/attributed", source="Orphanet:268322/ntbt"} xref: Orphanet:268322 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -389433,7 +388983,6 @@ def: "OBSOLETE. A disease that has its basis in the disruption of neural tube cl subset: ordo_group_of_disorders {source="Orphanet:268357"} synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "neural tube closure disease" EXACT [MONDO:design_pattern] -xref: GARD:17268 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:268357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -389845,7 +389394,6 @@ is_a: MONDO:0016057 {source="Orphanet:268829"} ! isolated encephalocele id: MONDO:0017083 name: obsolete lipoma associated with neurospinal dysraphism subset: disease_grouping -xref: GARD:20972 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:268832 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -389872,7 +389420,6 @@ id: MONDO:0017085 name: obsolete malformation of the neurenteric canal, spinal cord and column subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:268843"} -xref: GARD:20974 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:268843 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -389960,7 +389507,6 @@ name: obsolete midline cerebral malformation subset: ordo_group_of_disorders {source="Orphanet:268926"} subset: otar {source="MONDO:OTAR"} synonym: "Midline brain malformation" EXACT [Orphanet:268926] -xref: GARD:20978 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.8 {source="Orphanet:268926", source="Orphanet:268926/attributed", source="Orphanet:268926/ntbt"} xref: Orphanet:268926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -390199,7 +389745,6 @@ relationship: excluded_subClassOf MONDO:0019117 {source="MONDO:Redundant", sourc id: MONDO:0017104 name: obsolete central nervous system cystic malformation subset: ordo_group_of_disorders {source="Orphanet:269194"} -xref: GARD:20988 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269194 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390365,7 +389910,6 @@ id: MONDO:0017114 name: obsolete global cerebellar malformation subset: ordo_group_of_disorders {source="Orphanet:269224"} synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224] -xref: GARD:20997 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="Orphanet:269224/ntbt"} xref: Orphanet:269224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -390424,7 +389968,6 @@ id: MONDO:0017118 name: obsolete syndrome with a cerebellar malformation as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:269523"} -xref: GARD:20999 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269523 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 @@ -390437,7 +389980,6 @@ id: MONDO:0017119 name: obsolete syndrome with microcephaly as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:269528"} -xref: GARD:21000 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:2011102370 {source="MONDO:obsoleteEquivalent", source="Orphanet:269528", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:269528 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -390450,7 +389992,6 @@ id: MONDO:0017120 name: obsolete other syndrome with a central nervous system malformation as major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:269531"} -xref: GARD:21001 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269531 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -390461,7 +390002,6 @@ id: MONDO:0017121 name: obsolete syndrome with a Dandy-Walker malformation as major feature comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:269546"} -xref: GARD:21002 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269546 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -390473,7 +390013,6 @@ id: MONDO:0017122 name: obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:269573"} -xref: GARD:21010 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269573 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -390584,7 +390123,6 @@ synonym: "genetic mesenchymal tumour" EXACT OMO:0003005 [] synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832] synonym: "genetic soft tissue tumour" RELATED OMO:0003005 [] synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary] -xref: GARD:21011 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271832 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390598,7 +390136,6 @@ name: obsolete inherited digestive tract tumor subset: ordo_group_of_disorders {source="Orphanet:271835"} synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835] synonym: "genetic digestive tract tumour" RELATED OMO:0003005 [] -xref: GARD:21012 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271835 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390617,7 +390154,6 @@ synonym: "genetic cardiac tumour" RELATED OMO:0003005 [] synonym: "genetic heart tumor" EXACT [Orphanet:271841] synonym: "genetic heart tumour" EXACT OMO:0003005 [] synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary] -xref: GARD:21013 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271841 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390631,7 +390167,6 @@ id: MONDO:0017130 name: obsolete genetic urogenital tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:271844"} -xref: GARD:21014 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271844 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -390641,7 +390176,6 @@ name: obsolete hereditary cardiac anomaly subset: ordo_group_of_disorders {source="Orphanet:271853"} subset: otar {source="MONDO:OTAR"} synonym: "genetic cardiac anomaly" EXACT [Orphanet:271853] -xref: GARD:21016 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390653,7 +390187,6 @@ id: MONDO:0017132 name: obsolete hereditary ATTR amyloidosis subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -xref: GARD:21017 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0017132 {source="MONDO:CLINGEN"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390888,7 +390421,6 @@ synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [Orp synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [Orphanet:275729] synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [Orphanet:275729] -xref: GARD:21019 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:275729 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -390907,7 +390439,6 @@ synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [Orphane synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [Orphanet:275736] synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736] synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [Orphanet:275736] -xref: GARD:21020 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.8 {source="Orphanet:275736/attributed", source="Orphanet:275736/ntbt", source="Orphanet:275736"} xref: Orphanet:275736 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -390922,7 +390453,6 @@ def: "OBSOLETE. Genetic infertility." [] subset: ordo_group_of_disorders {source="Orphanet:275742"} synonym: "genetic infertility" EXACT [MONDO:patterns/genetic] synonym: "hereditary infertility disorder" EXACT [MONDO:patterns/hereditary] -xref: GARD:21021 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:275742 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390933,7 +390463,6 @@ consider: MONDO:0005047 id: MONDO:0017144 name: obsolete alpha-thalassemia and related diseases subset: ordo_group_of_disorders {source="Orphanet:275745"} -xref: GARD:21022 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D56.0 {source="Orphanet:275745/attributed", source="Orphanet:275745/ntbt", source="Orphanet:275745"} xref: Orphanet:275745 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -390962,7 +390491,6 @@ name: obsolete sickle cell disease and related diseases subset: clingen {source="MONDO:CLINGEN"} subset: ordo_group_of_disorders {source="Orphanet:275752"} subset: otar {source="MONDO:OTAR"} -xref: GARD:21024 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D57.0 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} xref: ICD10CM:D57.1 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} xref: ICD10CM:D57.2 {source="Orphanet:275752", source="Orphanet:275752/specific", source="Orphanet:275752/btnt"} @@ -391055,7 +390583,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:275791"} synonym: "PAH associated with another disease" EXACT [Orphanet:275791] synonym: "secondary PAH" EXACT [Orphanet:275791] -xref: GARD:21027 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275791", source="Orphanet:275791/ntbt"} xref: NANDO:2201048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:275791 {source="MONDO:obsoleteEquivalent"} @@ -391071,7 +390598,6 @@ def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275798"} synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798] -xref: GARD:21028 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275798", source="Orphanet:275798/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275798 {source="MONDO:obsoleteEquivalent"} @@ -391088,7 +390614,6 @@ def: "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275803"} synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803] -xref: GARD:21029 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275803/ntbt", source="Orphanet:275803"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275803 {source="MONDO:obsoleteEquivalent"} @@ -391105,7 +390630,6 @@ def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275808"} synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808] -xref: GARD:21030 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275808/ntbt", source="Orphanet:275808"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275808 {source="MONDO:obsoleteEquivalent"} @@ -391124,7 +390648,6 @@ subset: ordo_group_of_disorders {source="Orphanet:275813"} synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813] synonym: "POPH" EXACT ABBREVIATION [Orphanet:275813] synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813] -xref: GARD:21031 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275813/ntbt", source="Orphanet:275813"} xref: Orphanet:275813 {source="MONDO:obsoleteEquivalent"} xref: SCTID:445237003 {source="MONDO:obsoleteEquivalent"} @@ -391140,7 +390663,6 @@ def: "OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275823"} synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823] -xref: GARD:21032 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275823", source="Orphanet:275823/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275823 {source="MONDO:obsoleteEquivalent"} @@ -391157,7 +390679,6 @@ def: "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolyti comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275828"} synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828] -xref: GARD:21033 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I27.2 {source="Orphanet:275828", source="Orphanet:275828/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275828 {source="MONDO:obsoleteEquivalent"} @@ -391192,7 +390713,6 @@ name: obsolete pulmonary hypertension with unclear multifactorial mechanism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275844"} synonym: "PH with unclear multifactorial mechanism" EXACT [Orphanet:275844] -xref: GARD:21035 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:275844 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -391204,7 +390724,6 @@ id: MONDO:0017159 name: obsolete syndrome with pulmonary hypertension as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275853"} -xref: GARD:21036 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:275853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -391292,7 +390811,6 @@ name: obsolete hemolytic disease due to fetomaternal alloimmunization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:275938"} synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938] -xref: GARD:21037 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:P55.0 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.1 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.8 {source="Orphanet:275938", source="Orphanet:275938/btnt"} @@ -391341,7 +390859,6 @@ id: MONDO:0017166 name: obsolete rare tumor of salivary glands subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:276142"} -xref: GARD:21042 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:276142 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -391490,7 +391007,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "isolated male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234] synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:17277 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"} xref: Orphanet:276234 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -392461,7 +391977,6 @@ def: "OBSOLETE. Septopreoptic holoprosencephaly (HPE) is a very rare subtype of subset: ordo_subtype_of_a_disorder {source="Orphanet:280195"} subset: otar {source="MONDO:OTAR"} synonym: "Septopreoptic HPE" EXACT [Orphanet:280195] -xref: GARD:17289 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.2 {source="Orphanet:280195/attributed", source="Orphanet:280195/ntbt", source="Orphanet:280195"} xref: Orphanet:280195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -392787,7 +392302,6 @@ subset: ordo_group_of_disorders {source="Orphanet:280400"} subset: otar {source="MONDO:OTAR"} synonym: "familial prion disease" EXACT [Orphanet:280400] synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary] -xref: GARD:21085 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:A81.8 {source="Orphanet:280400/attributed", source="Orphanet:280400/ntbt", source="Orphanet:280400"} xref: NANDO:1200188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:280400 {source="MONDO:obsoleteEquivalent"} @@ -392905,7 +392419,6 @@ is_a: MONDO:0007771 ! hyperpigmentation with or without hypopigmentation, famili id: MONDO:0017240 name: obsolete acrodysostosis with multiple hormone resistance subset: otar {source="MONDO:OTAR"} -xref: GARD:17300 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q75.4 {source="Orphanet:280651/attributed", source="Orphanet:280651/ntbt", source="Orphanet:280651"} xref: Orphanet:280651 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -392926,7 +392439,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763] synonym: "AP4 related intellectual disability and spastic paraplegia" EXACT [https://github.com/monarch-initiative/mondo/issues/1728] synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [Orphanet:280763] -xref: GARD:10999 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:280763 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -393247,7 +392759,6 @@ name: obsolete systemic diseases with anterior uveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280926"} -xref: GARD:21101 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:280926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI @@ -393260,7 +392771,6 @@ name: obsolete systemic diseases with posterior uveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280930"} -xref: GARD:21102 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:280930 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI @@ -393273,7 +392783,6 @@ name: obsolete systemic diseases with panuveitis comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:280933"} -xref: GARD:21103 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:280933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI @@ -393287,7 +392796,6 @@ def: "OBSOLETE. A inherited ichthyosis that is not part of a larger syndrome." [ subset: ordo_group_of_disorders {source="Orphanet:281082"} synonym: "isolated inherited ichthyosis" EXACT [] synonym: "nonsyndromic inherited ichthyosis" EXACT [MONDO:patterns/isolated] -xref: GARD:21104 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:213831678 {source="Orphanet:281082", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:281082 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -393303,7 +392811,6 @@ def: "OBSOLETE. A inherited ichthyosis that is part of a larger syndrome." [MOND subset: ordo_group_of_disorders {source="Orphanet:281085"} synonym: "syndrome associated with inherited ichthyosis" EXACT [MONDO:patterns/syndromic] synonym: "syndromic inherited ichthyosis" EXACT [MONDO:patterns/syndromic] -xref: GARD:21105 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:488102959 {source="MONDO:obsoleteEquivalent", source="Orphanet:281085", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:281085 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -393463,7 +392970,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017270 name: obsolete autosomal ichthyosis syndrome subset: ordo_group_of_disorders {source="Orphanet:281217"} -xref: GARD:21110 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:281217 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -393477,7 +392983,6 @@ id: MONDO:0017271 name: obsolete autosomal ichthyosis syndrome with prominent hair abnormalities comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' subset: ordo_group_of_disorders {source="Orphanet:281222"} -xref: GARD:21111 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:281222 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -393490,7 +392995,6 @@ name: obsolete autosomal ichthyosis syndrome with prominent neurologics signs comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' subset: ordo_group_of_disorders {source="Orphanet:281238"} synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [Orphanet:281238] -xref: GARD:21112 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:281238 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -393502,7 +393006,6 @@ id: MONDO:0017273 name: obsolete autosomal ichthyosis syndrome with fatal disease course comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' subset: ordo_group_of_disorders {source="Orphanet:281241"} -xref: GARD:21113 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:281241 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -393890,7 +393393,6 @@ id: MONDO:0017288 name: obsolete DICER1 syndrome subset: otar {source="MONDO:OTAR"} xref: EFO:0009068 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"} -xref: GARD:10734 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6460" xsd:anyURI is_obsolete: true @@ -394140,7 +393642,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017302 name: obsolete qualitative or quantitative defects of troponin subset: ordo_group_of_disorders {source="Orphanet:284786"} -xref: GARD:21122 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:284786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -394259,7 +393760,6 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:284973"} subset: speculative synonym: "Marfan syndrome type II" EXACT [NCIT:C75007] synonym: "MFS2" EXACT ABBREVIATION [Orphanet:284973] -xref: GARD:17318 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.4 {source="Orphanet:284973", source="Orphanet:284973/attributed", source="Orphanet:284973/ntbt"} xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C75007 {source="MONDO:obsoleteEquivalentObsolete"} @@ -394309,7 +393809,6 @@ id: MONDO:0017311 name: obsolete rare disease with thoracic aortic aneurysm and aortic dissection comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular disease' subset: ordo_group_of_disorders {source="Orphanet:285014"} -xref: GARD:21130 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I71.1 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} xref: ICD10CM:I71.2 {source="Orphanet:285014", source="Orphanet:285014/attributed", source="Orphanet:285014/ntbt"} xref: Orphanet:285014 {source="MONDO:obsoleteEquivalent"} @@ -394810,7 +394309,6 @@ name: obsolete hypomyelinating leukodystrophy with or without oligondontia and/o comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: leukodystrophy subset: ordo_disorder {source="Orphanet:289494"} synonym: "Pol III-related leukodystrophy" RELATED [Orphanet:289494] -xref: GARD:21140 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:289494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -395565,7 +395063,6 @@ name: obsolete systemic disease with skin involvement comment: This is a grouping class that is considered out of scope. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:290836"} -xref: GARD:21160 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:290836 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3612" xsd:anyURI @@ -395577,7 +395074,6 @@ id: MONDO:0017369 name: obsolete autoinflammatory syndrome with immune deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' subset: ordo_group_of_disorders {source="Orphanet:290839"} -xref: GARD:21161 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:290839 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -395589,7 +395085,6 @@ id: MONDO:0017370 name: obsolete autoinflammatory syndrome with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' subset: ordo_group_of_disorders {source="Orphanet:290842"} -xref: GARD:21162 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:290842 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -395604,7 +395099,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:290849"} synonym: "rare head and neck neoplasia" EXACT [MONDO:patterns/rare] synonym: "rare head and neck neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:21163 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:290849 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -396126,7 +395620,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:293355"} synonym: "methylmalonic acidemia without homocystinuria" EXACT CLINGEN_LABEL [] synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355] -xref: GARD:13163 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E71.1 {source="Orphanet:293355", source="Orphanet:293355/attributed", source="Orphanet:293355/ntbt"} xref: Orphanet:293355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -396253,7 +395746,6 @@ is_a: MONDO:0005093 ! skin disorder id: MONDO:0017397 name: obsolete constitutional dyserythropoietic anemia subset: ordo_group_of_disorders {source="Orphanet:293830"} -xref: GARD:21172 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D64.4 {source="Orphanet:293830", source="Orphanet:293830/attributed", source="Orphanet:293830/ntbt"} xref: Orphanet:293830 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -396609,7 +396101,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294057"} synonym: "rare melanocytic nevus" EXACT [MONDO:patterns/rare] synonym: "rare nevus" EXACT [] -xref: GARD:21176 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:294057 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -396756,7 +396247,6 @@ id: MONDO:0017420 name: obsolete intercalary limb defects subset: ordo_group_of_disorders {source="Orphanet:294927"} synonym: "intercalary meromelia" EXACT [Orphanet:294927] -xref: GARD:21180 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:294927 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396882,7 +396372,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017428 name: obsolete congenital deformities of fingers subset: ordo_group_of_disorders {source="Orphanet:294947"} -xref: GARD:21182 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q68.1 {source="Orphanet:294947", source="Orphanet:294947/attributed", source="Orphanet:294947/ntbt"} xref: Orphanet:294947 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -396895,7 +396384,6 @@ is_obsolete: true id: MONDO:0017429 name: obsolete joint formation defects subset: ordo_group_of_disorders {source="Orphanet:294949"} -xref: GARD:21183 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1429730271 {source="Orphanet:294949", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:294949 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015227 {source="Orphanet:294949", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic limb malformation @@ -396911,7 +396399,6 @@ id: MONDO:0017430 name: obsolete non-syndromic congenital joint dislocations subset: ordo_group_of_disorders {source="Orphanet:294951"} synonym: "congenital joint dislocations" RELATED [Orphanet:294951] -xref: GARD:21184 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:294951 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396923,7 +396410,6 @@ id: MONDO:0017431 name: obsolete non-syndromic limb overgrowth subset: ordo_group_of_disorders {source="Orphanet:294953"} synonym: "limb overgrowth" RELATED [Orphanet:294953] -xref: GARD:21185 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:294953 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396935,7 +396421,6 @@ id: MONDO:0017432 name: obsolete syndrome with limb reduction defects comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:294955"} -xref: GARD:21186 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:294955 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -396947,7 +396432,6 @@ id: MONDO:0017433 name: obsolete dysostosis with combined reduction defects of upper and lower limbs subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:294957"} -xref: GARD:21187 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1211657447 {source="Orphanet:294957", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:294957 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -396957,7 +396441,6 @@ id: MONDO:0017434 name: obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:294959"} -xref: GARD:21188 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1911144861 {source="Orphanet:294959", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:294959 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -397272,7 +396755,6 @@ subset: ordo_disorder {source="Orphanet:294988"} subset: ordo_morphological_anomaly {source="Orphanet:294988"} synonym: "thumb hypodactyly" EXACT [Orphanet:294988] synonym: "thumb oligodactyly" EXACT [Orphanet:294988] -xref: GARD:21198 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q71.3 {source="Orphanet:294988/attributed", source="Orphanet:294988/ntbt", source="Orphanet:294988"} xref: Orphanet:294988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -399601,7 +399083,6 @@ synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373] synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373] synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373] -xref: GARD:17370 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E22.0 {source="Orphanet:300373/attributed", source="Orphanet:300373/ntbt", source="Orphanet:300373"} xref: Orphanet:300373 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -400668,7 +400149,6 @@ id: MONDO:0017629 name: obsolete sodium channelopathy-related small fiber neuropathy subset: ordo_disorder {source="Orphanet:306577"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17382 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306577 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -400700,7 +400180,6 @@ name: obsolete rare tumor of gallbladder and extrahepatic biliary tract subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306633"} synonym: "rare tumor of gallbladder and EBT" EXACT [Orphanet:306633] -xref: GARD:21256 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306633 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -400715,7 +400194,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306636"} synonym: "rare liver and intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare tumor of liver and IBT" EXACT [Orphanet:306636] -xref: GARD:21257 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306636 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -400726,7 +400204,6 @@ id: MONDO:0017633 name: obsolete rare intoxication due to medical products subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306640"} -xref: GARD:21258 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306640 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -400754,7 +400231,6 @@ id: MONDO:0017635 name: obsolete parkinsonian syndrome due to neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: parkinsonian disorder' subset: ordo_group_of_disorders {source="Orphanet:306666"} -xref: GARD:21261 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306666 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -400786,7 +400262,6 @@ id: MONDO:0017637 name: obsolete rare parkinsonian syndrome due to intoxication subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306679"} -xref: GARD:21263 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306679 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -400864,7 +400339,6 @@ id: MONDO:0017641 name: obsolete miscellaneous movement disorder due to neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' subset: ordo_group_of_disorders {source="Orphanet:306695"} -xref: GARD:21267 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306695 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -400890,7 +400364,6 @@ id: MONDO:0017643 name: obsolete frontotemporal neurodegeneration with movement disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' subset: ordo_group_of_disorders {source="Orphanet:306708"} -xref: GARD:21268 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306708 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -400902,7 +400375,6 @@ id: MONDO:0017644 name: obsolete rare tremor disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306712"} -xref: GARD:21269 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306712 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -400913,7 +400385,6 @@ id: MONDO:0017645 name: obsolete rare choreic movement disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306715"} -xref: GARD:21270 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306715 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -400924,7 +400395,6 @@ id: MONDO:0017646 name: obsolete neurodegenerative disease with chorea comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' subset: ordo_group_of_disorders {source="Orphanet:306719"} -xref: GARD:21271 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306719 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -400936,7 +400406,6 @@ id: MONDO:0017647 name: obsolete postinfectious autoimmune disease with chorea comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoimmune disease' subset: ordo_group_of_disorders {source="Orphanet:306727"} -xref: GARD:21272 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306727 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -400986,7 +400455,6 @@ id: MONDO:0017650 name: obsolete rare myoclonus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306747"} -xref: GARD:21274 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306747 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -400996,7 +400464,6 @@ replaced_by: MONDO:0005395 id: MONDO:0017651 name: obsolete primary myoclonus subset: ordo_group_of_disorders {source="Orphanet:306750"} -xref: GARD:21275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -401008,7 +400475,6 @@ id: MONDO:0017652 name: obsolete rare disease with myoclonus as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306753"} -xref: GARD:21276 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306753 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -401021,7 +400487,6 @@ id: MONDO:0017653 name: obsolete epilepsy and/or ataxia with myoclonus as major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306756"} -xref: GARD:21277 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306756 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -401030,7 +400495,6 @@ id: MONDO:0017654 name: obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306759"} -xref: GARD:21278 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI is_obsolete: true @@ -401047,7 +400511,6 @@ is_obsolete: true id: MONDO:0017656 name: obsolete motor stereotypies subset: ordo_group_of_disorders {source="Orphanet:306765"} -xref: GARD:21279 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306765 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -401059,7 +400522,6 @@ id: MONDO:0017657 name: obsolete rare paroxysmal movement disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306768"} -xref: GARD:21280 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:306768 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -401104,7 +400566,6 @@ name: obsolete rare genetic parkinsonian disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307052"} synonym: "rare genetic hypokinetic movement disorder" EXACT [Orphanet:307052] -xref: GARD:21283 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307052 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -401115,7 +400576,6 @@ id: MONDO:0017661 name: obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307055"} -xref: GARD:21284 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -401127,7 +400587,6 @@ id: MONDO:0017662 name: obsolete miscellaneous movement disorder due to genetic neurodegenerative disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: movement disorder' subset: ordo_group_of_disorders {source="Orphanet:307058"} -xref: GARD:21285 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307058 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -401140,8 +400599,6 @@ name: obsolete inherited tremor disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307061", source="Orphanet:307064"} synonym: "rare genetic myoclonus" EXACT [MONDO:0017664] -xref: GARD:21286 {source="MONDO:obsoleteEquivalent"} -xref: GARD:21287 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307061 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307064 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401161,7 +400618,6 @@ id: MONDO:0017665 name: obsolete rare genetic disease with myoclonus as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307067"} -xref: GARD:21288 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:307067 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -401201,7 +400657,6 @@ synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148] synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148] synonym: "isolated diffuse PPK" EXACT [Orphanet:307148] synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: GARD:21290 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307148/attributed", source="Orphanet:307148/ntbt", source="Orphanet:307148"} xref: Orphanet:307148 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401242,7 +400697,6 @@ name: obsolete disease with diffuse palmoplantar keratoderma as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307711"} synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307711] -xref: GARD:21291 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307711/attributed", source="Orphanet:307711/ntbt", source="Orphanet:307711"} xref: Orphanet:307711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401255,7 +400709,6 @@ id: MONDO:0017670 name: obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma subset: ordo_group_of_disorders {source="Orphanet:307773"} synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773] -xref: GARD:21292 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307773", source="Orphanet:307773/attributed", source="Orphanet:307773/ntbt"} xref: Orphanet:307773 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401271,7 +400724,6 @@ name: obsolete autosomal recessive disease with diffuse palmoplantar keratoderma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307804"} synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307804] -xref: GARD:21293 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307804/attributed", source="Orphanet:307804/ntbt", source="Orphanet:307804"} xref: Orphanet:307804 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401307,7 +400759,6 @@ synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846] synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846] synonym: "isolated focal PPK" EXACT [Orphanet:307846] synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] -xref: GARD:21295 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307846/attributed", source="Orphanet:307846/ntbt", source="Orphanet:307846"} xref: Orphanet:307846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401324,7 +400775,6 @@ def: "OBSOLETE. A disease in which focal palmoplantar keratoderma is a major fea subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307871"} synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307871] -xref: GARD:21296 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307871/attributed", source="Orphanet:307871/ntbt", source="Orphanet:307871"} xref: Orphanet:307871 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401360,7 +400810,6 @@ id: MONDO:0017676 name: obsolete marginal papular palmoplantar keratoderma subset: ordo_group_of_disorders {source="Orphanet:307995"} synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995] -xref: GARD:21298 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:307995/attributed", source="Orphanet:307995/ntbt", source="Orphanet:307995"} xref: Orphanet:307995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401399,7 +400848,6 @@ def: "OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. subset: ordo_group_of_disorders {source="Orphanet:308023"} synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308023] -xref: GARD:21300 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:308023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1521" xsd:anyURI @@ -401412,7 +400860,6 @@ name: obsolete obsolete autosomal dominant disease associated with punctate palm comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. subset: ordo_group_of_disorders {source="Orphanet:308031"} synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308031] -xref: GARD:21301 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:308031 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -401424,7 +400871,6 @@ id: MONDO:0017680 name: obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature subset: ordo_group_of_disorders {source="Orphanet:308041"} synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308041] -xref: GARD:21302 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:308041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2317" xsd:anyURI is_obsolete: true @@ -401433,7 +400879,6 @@ is_obsolete: true id: MONDO:0017681 name: obsolete erythrokeratoderma variabilis progressiva subset: otar {source="MONDO:OTAR"} -xref: GARD:10923 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6534" xsd:anyURI is_obsolete: true @@ -401665,7 +401110,6 @@ synonym: "glycogen storage disease type 0" EXACT [Wikipedia:Glycogen_storage_dis synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD0" EXACT ABBREVIATION [Wikipedia:Glycogen_storage_disease_type_0] -xref: GARD:21309 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E74.0 {source="Orphanet:308520/attributed", source="Orphanet:308520/ntbt", source="Orphanet:308520"} xref: NANDO:1200824 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:308520 {source="MONDO:obsoleteEquivalent"} @@ -402017,7 +401461,6 @@ is_a: MONDO:0019751 ! autoinflammatory syndrome id: MONDO:0017709 name: obsolete disorder of lipid absorption and transport subset: ordo_group_of_disorders {source="Orphanet:309028"} -xref: GARD:21316 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1858691234 {source="MONDO:obsoleteEquivalent", source="Orphanet:309028", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:309028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402032,7 +401475,6 @@ is_obsolete: true id: MONDO:0017710 name: obsolete congenital systemic veins anomaly subset: ordo_group_of_disorders {source="Orphanet:3091"} -xref: GARD:18785 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3091 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -402146,7 +401588,6 @@ id: MONDO:0017717 name: obsolete metabolic disease due to other fatty acid oxidation disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:309133"} -xref: GARD:21321 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E71.3 {source="Orphanet:309133", source="Orphanet:309133/attributed", source="Orphanet:309133/ntbt"} xref: Orphanet:309133 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -402159,7 +401600,6 @@ id: MONDO:0017718 name: obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:309136"} -xref: GARD:21322 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2200522 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:309136 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -402477,6 +401917,7 @@ def: "Sialidosis is a lysosomal storage disease, belonging to the group of oligo subset: clingen {source="MONDO:CLINGEN"} subset: disease_grouping subset: gard_rare {source="GARD:21331", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD", source="NORD:1713"} subset: ordo_group_of_disorders {source="Orphanet:309294"} subset: otar {source="MONDO:OTAR"} subset: rare @@ -402487,6 +401928,7 @@ xref: MedDRA:10058800 {source="Orphanet:309294", source="Orphanet:309294/e"} xref: MEDGEN:120621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200116 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200556 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} +xref: NORD:1713 {source="MONDO:NORD"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} xref: SCTID:38795005 {source="MONDO:equivalentTo"} xref: UMLS:C0268226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:120621"} @@ -402626,7 +402068,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006493 ! protein O-linke id: MONDO:0017742 name: obsolete disorder of O-xylosylglycan synthesis subset: ordo_group_of_disorders {source="Orphanet:309450"} -xref: GARD:21337 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:309450/attributed", source="Orphanet:309450/ntbt", source="Orphanet:309450"} xref: Orphanet:309450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402639,7 +402080,6 @@ is_obsolete: true id: MONDO:0017743 name: obsolete disorder of O-N-acetylgalactosaminylglycan synthesis subset: ordo_group_of_disorders {source="Orphanet:309458"} -xref: GARD:21338 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:309458/attributed", source="Orphanet:309458/ntbt", source="Orphanet:309458"} xref: Orphanet:309458 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402652,7 +402092,6 @@ is_obsolete: true id: MONDO:0017744 name: obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis subset: ordo_group_of_disorders {source="Orphanet:309463"} -xref: GARD:21339 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:309463", source="Orphanet:309463/attributed", source="Orphanet:309463/ntbt"} xref: Orphanet:309463 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402665,7 +402104,6 @@ is_obsolete: true id: MONDO:0017745 name: obsolete disorder of O-mannosylglycan synthesis subset: ordo_group_of_disorders {source="Orphanet:309469"} -xref: GARD:21340 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:309469/attributed", source="Orphanet:309469/ntbt", source="Orphanet:309469"} xref: Orphanet:309469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402791,7 +402229,6 @@ id: MONDO:0017753 name: obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation subset: ordo_group_of_disorders {source="Orphanet:309810"} synonym: "disorder of peroxisomal alpha-, beta- and omega-oxidation" EXACT [GARD:0012476] -xref: GARD:12476 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1092479335 {source="MONDO:obsoleteEquivalent", source="Orphanet:309810", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:309810 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -402859,7 +402296,6 @@ relationship: disease_disrupts GO:0015723 ! bilirubin transport id: MONDO:0017756 name: obsolete disorder of pterin metabolism subset: ordo_group_of_disorders {source="Orphanet:309819"} -xref: GARD:21348 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1801446733 {source="MONDO:obsoleteEquivalent", source="Orphanet:309819", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:309819 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -402919,7 +402355,6 @@ intersection_of: disease_has_basis_in_disruption_of GO:0042423 ! catecholamine b id: MONDO:0017760 name: obsolete disorder of other vitamins and cofactors metabolism and transport subset: ordo_group_of_disorders {source="Orphanet:309833"} -xref: GARD:21352 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:309833 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -403759,7 +403194,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:314425"} synonym: "rare odontogenic neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare odontogenic tumor" RELATED [Orphanet:314425] -xref: GARD:21370 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:314425 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -404220,7 +403654,6 @@ def: "OBSOLETE. A disease in which Cushing syndrome is a major feature." [https: comment: This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. subset: ordo_group_of_disorders {source="Orphanet:314749"} synonym: "rare disease with Cushing syndrome as a major feature" EXACT [Orphanet:314749] -xref: GARD:21388 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:314749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1522" xsd:anyURI @@ -404384,7 +403817,6 @@ id: MONDO:0017828 name: obsolete primary renal tubular acidosis subset: ordo_group_of_disorders {source="Orphanet:314822"} subset: otar {source="MONDO:OTAR"} -xref: GARD:7552 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N25.8 {source="Orphanet:314822/attributed", source="Orphanet:314822/ntbt", source="Orphanet:314822"} xref: Orphanet:314822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -404640,7 +404072,6 @@ synonym: "autoimmune disease of skin and connective tissue" EXACT [MONDO:0000593 synonym: "integument hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] synonym: "skin of body hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060039 {source="MONDO:obsoleteEquivalent"} -xref: GARD:21400 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:315350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -405839,7 +405270,6 @@ is_a: MONDO:0005549 {source="NCIT:C126303"} ! renal cell adenocarcinoma id: MONDO:0017891 name: obsolete inherited renal cancer-predisposing syndrome subset: ordo_group_of_disorders {source="Orphanet:319328"} -xref: GARD:21420 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:319328 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -405981,7 +405411,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319535"} synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535] synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:21422 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.8 {source="Orphanet:319535/attributed", source="Orphanet:319535/ntbt", source="Orphanet:319535"} xref: Orphanet:319535 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -405997,7 +405426,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319539"} synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:21423 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.8 {source="Orphanet:319539/attributed", source="Orphanet:319539/ntbt", source="Orphanet:319539"} xref: Orphanet:319539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -406013,7 +405441,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:319543"} synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:21424 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D84.8 {source="Orphanet:319543", source="Orphanet:319543/attributed", source="Orphanet:319543/ntbt"} xref: Orphanet:319543 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -406275,7 +405702,6 @@ replaced_by: MONDO:0009151 id: MONDO:0017912 name: obsolete X-linked pure spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320332"} -xref: GARD:21428 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320332", source="Orphanet:320332/attributed", source="Orphanet:320332/ntbt"} xref: Orphanet:320332 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406306,7 +405732,6 @@ id: MONDO:0017914 name: obsolete pure or complex autosomal dominant spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320342"} synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342] -xref: GARD:21430 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320342/attributed", source="Orphanet:320342/ntbt", source="Orphanet:320342"} xref: Orphanet:320342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406321,7 +405746,6 @@ name: obsolete pure or complex autosomal recessive spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320346"} subset: otar {source="MONDO:OTAR"} synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346] -xref: GARD:21431 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320346", source="Orphanet:320346/attributed", source="Orphanet:320346/ntbt"} xref: Orphanet:320346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406335,7 +405759,6 @@ id: MONDO:0017916 name: obsolete pure or complex X-linked spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320350"} synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350] -xref: GARD:21432 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:320350/attributed", source="Orphanet:320350/ntbt", source="Orphanet:320350"} xref: Orphanet:320350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406478,7 +405901,6 @@ name: obsolete deafness-onychodystrophy syndrome def: "OBSOLETE. Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies." [Orphanet:3231] subset: ordo_group_of_disorders {source="Orphanet:3231"} subset: otar {source="MONDO:OTAR"} -xref: GARD:16624 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.8 {source="Orphanet:3231/attributed", source="Orphanet:3231/ntbt", source="Orphanet:3231"} xref: Orphanet:3231 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3231", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -407057,7 +406479,6 @@ id: MONDO:0017950 name: obsolete microcephalic primordial dwarfism subset: ordo_group_of_disorders {source="Orphanet:324761"} subset: otar {source="MONDO:OTAR"} -xref: GARD:21450 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.1 {source="Orphanet:324761/attributed", source="Orphanet:324761/ntbt", source="Orphanet:324761"} xref: Orphanet:324761 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:324761", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -407096,7 +406517,6 @@ id: MONDO:0017952 name: obsolete non-familial rare disease with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: disease or disorder' subset: ordo_group_of_disorders {source="Orphanet:324767"} -xref: GARD:21452 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324767 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407128,7 +406548,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0017954 name: obsolete pyogenic autoinflammatory syndrome subset: ordo_group_of_disorders {source="Orphanet:324927"} -xref: GARD:21454 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324927 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407140,7 +406559,6 @@ is_obsolete: true id: MONDO:0017955 name: obsolete granulomatous autoinflammatory syndrome subset: ordo_group_of_disorders {source="Orphanet:324930"} -xref: GARD:21455 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324930 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407153,7 +406571,6 @@ id: MONDO:0017956 name: obsolete mixed autoinflammatory and autoimmune syndrome comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autoinflammatory syndrome' subset: ordo_group_of_disorders {source="Orphanet:324933"} -xref: GARD:21456 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407165,7 +406582,6 @@ id: MONDO:0017957 name: obsolete unclassified autoinflammatory syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:324936"} -xref: GARD:21457 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324936 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI @@ -407204,7 +406620,6 @@ replaced_by: MONDO:0009726 id: MONDO:0017961 name: obsolete 46,XX disorder of gonadal development subset: ordo_group_of_disorders {source="Orphanet:325055"} -xref: GARD:21463 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407218,7 +406633,6 @@ id: MONDO:0017962 name: obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess subset: ordo_group_of_disorders {source="Orphanet:325061"} synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061] -xref: GARD:21464 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407232,7 +406646,6 @@ id: MONDO:0017963 name: obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:325093"} synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093] -xref: GARD:21465 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q56.2 {source="Orphanet:325093", source="Orphanet:325093/ntbt"} xref: Orphanet:325093 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -407247,7 +406660,6 @@ id: MONDO:0017964 name: obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:325099"} synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099] -xref: GARD:21466 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q56.2 {source="Orphanet:325099/ntbt", source="Orphanet:325099"} xref: Orphanet:325099 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -407263,7 +406675,6 @@ name: obsolete syndrome with 46,XX disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:325109"} synonym: "syndrome with 46,XX DSD" EXACT [Orphanet:325109] -xref: GARD:21467 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325109 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407274,7 +406685,6 @@ consider: MONDO:0002254 id: MONDO:0017966 name: obsolete 46,XY disorder of gonadal development subset: ordo_group_of_disorders {source="Orphanet:325118"} -xref: GARD:21468 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325118 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407342,7 +406752,6 @@ id: MONDO:0017969 name: obsolete 46,XY disorder of sex development of endocrine origin subset: ordo_group_of_disorders {source="Orphanet:325351"} synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351] -xref: GARD:21470 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407357,7 +406766,6 @@ name: obsolete 46,XY disorder of sex development due to impaired androgen produc comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:325357"} synonym: "46,XY DSD due to impaired androgen production" EXACT [Orphanet:325357] -xref: GARD:21471 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407370,7 +406778,6 @@ name: obsolete 46,XY disorder of sex development due to a cholesterol synthesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:325511"} synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [Orphanet:325511] -xref: GARD:21472 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325511 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407417,7 +406824,6 @@ id: MONDO:0017974 name: obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors subset: ordo_group_of_disorders {source="Orphanet:325537"} synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [Orphanet:325537] -xref: GARD:21475 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407448,7 +406854,6 @@ name: obsolete disorder of sex development of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325620"} synonym: "DSD of gynecological interest" EXACT [Orphanet:325620] -xref: GARD:21477 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325620 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -407460,7 +406865,6 @@ name: obsolete 46,XY disorder of sex development of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325632"} synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632] -xref: GARD:21478 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325632 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -407472,7 +406876,6 @@ name: obsolete syndrome with disorder of sex development of gynecological intere comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325638"} synonym: "syndrome with DSD of gynecological interest" EXACT [Orphanet:325638] -xref: GARD:21479 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325638 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -408668,7 +408071,6 @@ id: MONDO:0018032 name: obsolete constitutional neutropenia with extra-hematopoietic manifestations subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331184"} -xref: GARD:21508 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:331184 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -408677,7 +408079,6 @@ id: MONDO:0018033 name: obsolete other immunodeficiency syndromes due to defects in innate immunity subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331193"} -xref: GARD:21509 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:331193 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -408716,7 +408117,6 @@ id: MONDO:0018035 name: obsolete syndrome with combined immunodeficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:331217"} -xref: GARD:21510 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2100203 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:331217 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -408729,7 +408129,6 @@ id: MONDO:0018036 name: obsolete immunodeficiency due to absence of thymus comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:331220"} -xref: GARD:21511 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D81.4 {source="Orphanet:331220", source="Orphanet:331220/attributed", source="Orphanet:331220/ntbt"} xref: Orphanet:331220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -408768,7 +408167,6 @@ id: MONDO:0018038 name: obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331232"} -xref: GARD:21512 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:331232 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -408801,7 +408199,6 @@ id: MONDO:0018040 name: obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells comment: This is a grouping class from Orphanet that only had a single child, and was undefined. subset: ordo_group_of_disorders {source="Orphanet:331240"} -xref: GARD:21513 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:769068598 {source="MONDO:obsoleteEquivalent", source="Orphanet:331240", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:331240 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1667" xsd:anyURI @@ -408813,7 +408210,6 @@ id: MONDO:0018041 name: obsolete other immunodeficiency syndrome with predominantly antibody defects subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:331244"} -xref: GARD:21514 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D80.8 {source="Orphanet:331244", source="Orphanet:331244/e", source="Orphanet:331244/specific"} xref: Orphanet:331244 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -408826,7 +408222,6 @@ name: obsolete immunodeficiency syndrome with abnormal pigmentation comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:331249"} synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [Orphanet:331249] -xref: GARD:21515 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:2015243510 {source="MONDO:obsoleteEquivalent", source="Orphanet:331249", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:331249 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -409841,7 +409236,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3399"} synonym: "germ cell tumor" BROAD [Orphanet:3399] synonym: "rare germ cell tumor" EXACT [MONDO:patterns/rare] -xref: GARD:18797 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3399 {source="MONDO:obsoleteEquivalent"} xref: SCTID:402878003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -410650,7 +410044,6 @@ subset: ordo_disorder {source="Orphanet:35093"} subset: otar {source="MONDO:OTAR"} synonym: "isolated dolichocephaly" EXACT [Orphanet:35093] synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093] -xref: GARD:16633 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q75.0 {source="Orphanet:35093/attributed", source="Orphanet:35093/ntbt", source="Orphanet:35093"} xref: NANDO:2201302 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:35093 {source="MONDO:obsoleteEquivalent"} @@ -410686,7 +410079,6 @@ def: "OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic cra subset: ordo_disorder {source="Orphanet:35099"} subset: otar {source="MONDO:OTAR"} synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099] -xref: GARD:16634 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q75.0 {source="Orphanet:35099/attributed", source="Orphanet:35099/ntbt", source="Orphanet:35099"} xref: Orphanet:35099 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease @@ -410781,7 +410173,6 @@ id: MONDO:0018118 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:352306"} -xref: GARD:21517 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:352306 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -410793,7 +410184,6 @@ id: MONDO:0018119 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:352309"} -xref: GARD:21518 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:352309 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -410805,7 +410195,6 @@ id: MONDO:0018120 name: obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited lipid metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:352312"} -xref: GARD:21519 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:352312 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -411048,7 +410437,6 @@ subset: ordo_group_of_disorders {source="Orphanet:352687"} synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [Orphanet:352687] synonym: "MDDGA" EXACT ABBREVIATION [Orphanet:352687] xref: DOID:0111229 {source="MONDO:obsoleteEquivalent"} -xref: GARD:12588 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:352687 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -411262,7 +410650,6 @@ id: MONDO:0018144 name: obsolete congenital myasthenic syndromes with glycosylation defect subset: ordo_subtype_of_a_disorder {source="Orphanet:353327"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17539 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G70.2 {source="Orphanet:353327", source="Orphanet:353327/attributed", source="Orphanet:353327/ntbt"} xref: Orphanet:353327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -411646,7 +411033,6 @@ synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS defect" EXACT [Orphanet:35696] synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696] synonym: "COXPD" EXACT ABBREVIATION [Orphanet:35696] -xref: GARD:18814 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E88.8 {source="Orphanet:35696/attributed", source="Orphanet:35696/ntbt", source="Orphanet:35696"} xref: Orphanet:35696 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -412338,7 +411724,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018185 name: obsolete congenital anomaly of the great veins subset: ordo_group_of_disorders {source="Orphanet:363189"} -xref: GARD:21541 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363189 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -412354,7 +411739,6 @@ comment: Reason: grouping class. This term is from orphanet and refers specifica subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363203"} synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360] -xref: GARD:21542 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.2 {source="Orphanet:363203", source="Orphanet:363203/attributed", source="Orphanet:363203/ntbt"} xref: MESH:D012303 xref: NCIT:C3360 @@ -412369,7 +411753,6 @@ id: MONDO:0018187 name: obsolete hereditary syndromic Pierre Robin syndrome subset: ordo_group_of_disorders {source="Orphanet:363294"} synonym: "genetic syndromic Pierre Robin syndrome" EXACT [Orphanet:363294] -xref: GARD:21545 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363294 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:363294", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -412385,7 +411768,6 @@ subset: ordo_group_of_disorders {source="Orphanet:363314"} subset: otar {source="MONDO:OTAR"} synonym: "familial intestinal polyposis" EXACT [Orphanet:363314] synonym: "genetic intestinal polyposis" EXACT [Orphanet:363314] -xref: GARD:21548 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D12.6 {source="Orphanet:363314", source="Orphanet:363314/attributed", source="Orphanet:363314/ntbt"} xref: Orphanet:363314 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -412443,7 +411825,6 @@ name: obsolete tumor of testis and paratestis subset: ordo_group_of_disorders {source="Orphanet:363472"} synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472] synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 [] -xref: GARD:21549 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363472 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -412583,7 +411964,6 @@ id: MONDO:0018200 name: obsolete acute encephalopathy with inflammation-mediated status epilepticus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363567"} -xref: GARD:21553 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363567 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -413032,7 +412412,6 @@ id: MONDO:0018222 name: obsolete X-linked intellectual disability due to GRIA3 anomalies subset: ordo_disorder {source="Orphanet:364028"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17581 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:F72 {source="Orphanet:364028", source="Orphanet:364028/attributed", source="Orphanet:364028/ntbt"} xref: Orphanet:364028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -413274,7 +412653,6 @@ comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:364531"} synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] -xref: GARD:21568 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364531 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -413288,7 +412666,6 @@ comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:364536"} synonym: "primary osteodysplasia with micromelia" EXACT [Orphanet:364536] synonym: "primary skeletal dysplasia with micromelia" EXACT [Orphanet:364536] -xref: GARD:21569 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364536 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -413349,7 +412726,6 @@ id: MONDO:0018235 name: obsolete dysostosis with limb anomaly as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364568"} -xref: GARD:21572 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -413361,7 +412737,6 @@ id: MONDO:0018236 name: obsolete dysostosis with limb and face anomalies as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:364571"} -xref: GARD:21573 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -413399,7 +412774,6 @@ replaced_by: MONDO:0005381 [Term] id: MONDO:0018239 name: obsolete aggrecan-related bone disorder -xref: GARD:21576 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364817 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -413436,7 +412810,6 @@ id: MONDO:0018241 name: obsolete primary short bowel syndrome subset: ordo_group_of_disorders {source="Orphanet:365563"} subset: otar {source="MONDO:OTAR"} -xref: GARD:21578 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q41.0 {source="Orphanet:365563/attributed", source="Orphanet:365563/ntbt", source="Orphanet:365563"} xref: Orphanet:365563 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -413531,7 +412904,6 @@ name: obsolete homozygous 2p21 microdeletion syndrome subset: ordo_group_of_disorders {source="Orphanet:369886"} subset: otar {source="MONDO:OTAR"} synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886] -xref: GARD:21582 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.5 {source="Orphanet:369886/attributed", source="Orphanet:369886/ntbt", source="Orphanet:369886"} xref: Orphanet:369886 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -413640,7 +413012,6 @@ synonym: "GSDIX" EXACT ABBREVIATION [https://www.ncbi.nlm.nih.gov/books/NBK55061 synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370] synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662] xref: DOID:0050594 {source="MONDO:obsoleteEquivalent"} -xref: GARD:18691 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E74.0 {source="Orphanet:370/inclusion", source="Orphanet:370", source="Orphanet:370/ntbt"} xref: MESH:C580130 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1201020 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -413831,7 +413202,6 @@ synonym: "fetal AEDS" EXACT [Orphanet:370068] synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] synonym: "foetal AEDS" EXACT OMO:0003005 [] synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 [] -xref: GARD:21594 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"} xref: Orphanet:370068 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -413887,7 +413257,6 @@ id: MONDO:0018265 name: obsolete rare disorder with dystonia and other neurologic or systemic manifestation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:370106"} -xref: GARD:21596 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:370106 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -414152,7 +413521,6 @@ subset: ordo_disorder {source="Orphanet:370959"} subset: otar {source="MONDO:OTAR"} synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959] synonym: "CMD-CRB" EXACT [Orphanet:370959] -xref: GARD:17605 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.2 {source="Orphanet:370959", source="Orphanet:370959/attributed", source="Orphanet:370959/ntbt"} xref: Orphanet:370959 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -414265,7 +413633,6 @@ subset: ordo_group_of_disorders {source="Orphanet:371040"} subset: otar {source="MONDO:OTAR"} synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040] synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040] -xref: GARD:21602 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.2 {source="Orphanet:371040", source="Orphanet:371040/attributed", source="Orphanet:371040/ntbt"} xref: Orphanet:371040 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -414279,7 +413646,6 @@ name: obsolete congenital disorder of glycosylation with neurological involvemen comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371047"} synonym: "CDG with neurological involvement" EXACT [Orphanet:371047] -xref: GARD:21603 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371047", source="Orphanet:371047/attributed", source="Orphanet:371047/ntbt"} xref: Orphanet:371047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414318,7 +413684,6 @@ name: obsolete congenital disorder of glycosylation with epilepsy as a major fea subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371071"} synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071] -xref: GARD:21604 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371071/attributed", source="Orphanet:371071/ntbt", source="Orphanet:371071"} xref: Orphanet:371071 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414332,7 +413697,6 @@ name: obsolete congenital disorder of glycosylation with hepatic involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371157"} synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157] -xref: GARD:21605 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371157", source="Orphanet:371157/attributed", source="Orphanet:371157/ntbt"} xref: Orphanet:371157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414347,7 +413711,6 @@ name: obsolete congenital disorder of glycosylation with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371176"} synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176] -xref: GARD:21606 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371176/attributed", source="Orphanet:371176/ntbt", source="Orphanet:371176"} xref: Orphanet:371176 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414362,7 +413725,6 @@ name: obsolete congenital disorder of glycosylation with cardiac malformation as subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371183"} synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183] -xref: GARD:21607 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371183", source="Orphanet:371183/attributed", source="Orphanet:371183/ntbt"} xref: Orphanet:371183 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414376,7 +413738,6 @@ name: obsolete congenital disorder of glycosylation with intestinal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371188"} synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188] -xref: GARD:21608 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371188", source="Orphanet:371188/attributed", source="Orphanet:371188/ntbt"} xref: Orphanet:371188 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414390,7 +413751,6 @@ id: MONDO:0018292 name: obsolete congenital disorder of glycosylation-related bone disorder subset: ordo_group_of_disorders {source="Orphanet:371195"} synonym: "CDG-related bone disorder" EXACT [Orphanet:371195] -xref: GARD:21609 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371195/attributed", source="Orphanet:371195/ntbt", source="Orphanet:371195"} xref: Orphanet:371195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -414408,7 +413768,6 @@ name: obsolete congenital disorder of glycosylation with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371200"} synonym: "CDG with skin involvement" EXACT [Orphanet:371200] -xref: GARD:21610 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371200", source="Orphanet:371200/attributed", source="Orphanet:371200/ntbt"} xref: Orphanet:371200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414423,7 +413782,6 @@ name: obsolete congenital disorder of glycosylation with nephropathy as a major subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371207"} synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207] -xref: GARD:21611 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371207/attributed", source="Orphanet:371207/ntbt", source="Orphanet:371207"} xref: Orphanet:371207 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414437,7 +413795,6 @@ name: obsolete congenital disorder of glycosylation with deafness as a major fea subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371212"} synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212] -xref: GARD:21612 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371212", source="Orphanet:371212/attributed", source="Orphanet:371212/ntbt"} xref: Orphanet:371212 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414451,7 +413808,6 @@ name: obsolete congenital disorder of glycosylation with developmental anomaly comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371235"} synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235] -xref: GARD:12782 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E77.8 {source="Orphanet:371235", source="Orphanet:371235/attributed", source="Orphanet:371235/ntbt"} xref: Orphanet:371235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414493,7 +413849,6 @@ id: MONDO:0018299 name: obsolete sphingolipidosis with epilepsy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371442"} -xref: GARD:21615 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:371442 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -415044,7 +414399,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018318 name: obsolete disorder of asparagine metabolism subset: ordo_group_of_disorders {source="Orphanet:391381"} -xref: GARD:21622 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:391381 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -415282,7 +414636,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018329 name: obsolete persistent combined dystonia subset: ordo_group_of_disorders {source="Orphanet:391711"} -xref: GARD:21628 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G24.1 {source="Orphanet:391711/attributed", source="Orphanet:391711/ntbt", source="Orphanet:391711"} xref: Orphanet:391711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -415402,7 +414755,6 @@ name: obsolete Silver-Russell syndrome due to a point mutation comment: We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. subset: ordo_etiological_subtype {source="Orphanet:397590"} subset: ordo_subtype_of_a_disorder {source="Orphanet:397590"} -xref: GARD:17628 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.1 {source="Orphanet:397590/attributed", source="Orphanet:397590/ntbt", source="Orphanet:397590"} xref: Orphanet:397590 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1842" xsd:anyURI @@ -415413,7 +414765,6 @@ consider: MONDO:0008394 id: MONDO:0018337 name: obsolete severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency subset: otar {source="MONDO:OTAR"} -xref: GARD:17629 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E88.8 {source="Orphanet:397593", source="Orphanet:397593/attributed", source="Orphanet:397593/ntbt"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -415471,7 +414822,6 @@ id: MONDO:0018340 name: obsolete hereditary isolated aplastic anemia subset: ordo_disorder {source="Orphanet:397692"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17635 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D61.0 {source="Orphanet:397692", source="Orphanet:397692/ntbt", source="Orphanet:397692/inclusion"} xref: Orphanet:397692 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -415551,7 +414901,6 @@ name: obsolete periodic paralysis with transient compartment-like syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeGroupingPhenotype. Term to consider: -none subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:397755"} -xref: GARD:21635 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G72.3 {source="Orphanet:397755", source="Orphanet:397755/attributed", source="Orphanet:397755/ntbt"} xref: Orphanet:397755 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} @@ -415594,7 +414943,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018347 name: obsolete severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome subset: otar {source="MONDO:OTAR"} -xref: GARD:13221 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7283" xsd:anyURI is_obsolete: true @@ -416186,7 +415534,6 @@ id: MONDO:0018377 name: obsolete rare hereditary disease with avascular necrosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399185"} -xref: GARD:21662 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:399185 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416336,7 +415683,6 @@ def: "OBSOLETE. An instance of avascular necrosis that is caused by a modificati subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:399388"} synonym: "genetic avascular necrosis" EXACT [MONDO:patterns/genetic] -xref: GARD:21668 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M93.9 {source="Orphanet:399388/attributed", source="Orphanet:399388/ntbt", source="Orphanet:399388"} xref: Orphanet:399388 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -416351,7 +415697,6 @@ name: obsolete osteochondrosis of genetic origin def: "OBSOLETE. An instance of osteochondrosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:399391"} synonym: "genetic osteochondrosis" EXACT [MONDO:patterns/genetic] -xref: GARD:21669 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:M93.9 {source="Orphanet:399391/attributed", source="Orphanet:399391/ntbt", source="Orphanet:399391"} xref: Orphanet:399391 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -416367,7 +415712,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399572"} synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [Orphanet:399572] synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [Orphanet:399572] -xref: GARD:21670 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399572/ntbt", source="Orphanet:399572"} xref: Orphanet:399572 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416380,7 +415724,6 @@ id: MONDO:0018387 name: obsolete rare male infertility due to adrenal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399584"} -xref: GARD:21671 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399584", source="Orphanet:399584/ntbt"} xref: Orphanet:399584 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416393,7 +415736,6 @@ id: MONDO:0018388 name: obsolete rare male infertility due to testicular endocrine disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399685"} -xref: GARD:21672 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399685/attributed", source="Orphanet:399685/ntbt", source="Orphanet:399685"} xref: Orphanet:399685 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416407,7 +415749,6 @@ name: obsolete male infertility due to gonadal dysgenesis or sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399764"} synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764] -xref: GARD:21673 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399764/attributed", source="Orphanet:399764/ntbt", source="Orphanet:399764"} xref: Orphanet:399764 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416420,7 +415761,6 @@ id: MONDO:0018390 name: obsolete male infertility due to sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399771"} -xref: GARD:21674 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399771", source="Orphanet:399771/attributed", source="Orphanet:399771/ntbt"} xref: Orphanet:399771 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416433,7 +415773,6 @@ id: MONDO:0018391 name: obsolete male infertility with spermatogenesis disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399775"} -xref: GARD:21675 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399775/attributed", source="Orphanet:399775/ntbt", source="Orphanet:399775"} xref: Orphanet:399775 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416446,7 +415785,6 @@ id: MONDO:0018392 name: obsolete male infertility with spermatogenesis disorder due to single gene mutation comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399786"} -xref: GARD:12513 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399786/attributed", source="Orphanet:399786/ntbt", source="Orphanet:399786"} xref: Orphanet:399786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416461,7 +415799,6 @@ name: obsolete male infertility with azoospermia or oligozoospermia due to singl def: "OBSOLETE. Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal." [Orphanet:399805] subset: ordo_disorder {source="Orphanet:399805"} subset: otar {source="MONDO:OTAR"} -xref: GARD:8530 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399805/attributed", source="Orphanet:399805/ntbt", source="Orphanet:399805"} xref: Orphanet:399805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -416492,7 +415829,6 @@ name: obsolete male infertility due to sperm motility disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399813"} synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813] -xref: GARD:21676 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399813", source="Orphanet:399813/attributed", source="Orphanet:399813/ntbt"} xref: Orphanet:399813 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416507,7 +415843,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399824"} synonym: "rare disorder due to impaired sperm transport" EXACT [Orphanet:399824] synonym: "rare disorder with obstructive azoospermia" RELATED [Orphanet:399824] -xref: GARD:21677 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:399824 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416521,7 +415856,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399831"} synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [Orphanet:399831] synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [Orphanet:399831] -xref: GARD:21678 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:399831/ntbt", source="Orphanet:399831"} xref: Orphanet:399831 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416535,7 +415869,6 @@ name: obsolete female infertility due to a congenital hypogonadotropic hypogonad comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399839"} synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846] -xref: GARD:21679 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:399839/attributed", source="Orphanet:399839/ntbt", source="Orphanet:399839"} xref: Orphanet:399839 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416557,7 +415890,6 @@ id: MONDO:0018400 name: obsolete rare female infertility due to an adrenal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399849"} -xref: GARD:21681 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:399849 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416569,7 +415901,6 @@ id: MONDO:0018401 name: obsolete female infertility due to an anomaly of ovarian function subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399853"} -xref: GARD:21682 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:399853/ntbt", source="Orphanet:399853"} xref: Orphanet:399853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416585,7 +415916,6 @@ subset: ordo_group_of_disorders {source="Orphanet:399877"} synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877] synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] -xref: GARD:21683 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:399877", source="Orphanet:399877/attributed", source="Orphanet:399877/ntbt"} xref: Orphanet:399877 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416599,7 +415929,6 @@ name: obsolete female infertility due to an implantation defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399882"} synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882] -xref: GARD:21684 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="Orphanet:399882/ntbt"} xref: Orphanet:399882 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416614,7 +415943,6 @@ def: "OBSOLETE. Rare genetic male infertility." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399980"} synonym: "rare genetic male infertility" EXACT [] -xref: GARD:21685 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:399980 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -416629,7 +415957,6 @@ subset: ordo_group_of_disorders {source="Orphanet:399983"} synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983] synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983] -xref: GARD:21686 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399983", source="Orphanet:399983/attributed", source="Orphanet:399983/ntbt"} xref: Orphanet:399983 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416642,7 +415969,6 @@ id: MONDO:0018406 name: obsolete rare male infertility due to adrenal disorder of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399994"} -xref: GARD:21687 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399994", source="Orphanet:399994/attributed", source="Orphanet:399994/ntbt"} xref: Orphanet:399994 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416656,7 +415982,6 @@ name: obsolete male infertility due to obstructive azoospermia of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399998"} synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998] -xref: GARD:21688 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:399998", source="Orphanet:399998/attributed", source="Orphanet:399998/ntbt"} xref: Orphanet:399998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416722,7 +416047,6 @@ name: obsolete rare genetic disorder with obstructive azoospermia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400003"} synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003] -xref: GARD:21689 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:400003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416734,7 +416058,6 @@ id: MONDO:0018410 name: obsolete rare genetic female infertility subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400008"} -xref: GARD:21690 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:400008 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -416749,7 +416072,6 @@ subset: ordo_group_of_disorders {source="Orphanet:400011"} synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011] synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011] -xref: GARD:21691 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:400011/attributed", source="Orphanet:400011/ntbt", source="Orphanet:400011"} xref: Orphanet:400011 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416762,7 +416084,6 @@ id: MONDO:0018412 name: obsolete rare female infertility due to adrenal disorder of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400018"} -xref: GARD:21692 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:400018 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416774,7 +416095,6 @@ id: MONDO:0018413 name: obsolete female infertility due to an anomaly of ovarian function of genetic origin subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400022"} -xref: GARD:21693 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.0 {source="Orphanet:400022/attributed", source="Orphanet:400022/ntbt", source="Orphanet:400022"} xref: Orphanet:400022 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416787,7 +416107,6 @@ id: MONDO:0018414 name: obsolete female infertility due to an implantation defect of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:400025"} -xref: GARD:21694 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.2 {source="Orphanet:400025", source="MONDO:relatedTo", source="Orphanet:400025/attributed", source="Orphanet:400025/ntbt"} xref: Orphanet:400025 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -417373,7 +416692,6 @@ subset: ordo_group_of_disorders {source="Orphanet:404469"} synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469] synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469] -xref: GARD:21718 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N97.8 {source="Orphanet:404469", source="Orphanet:404469/attributed", source="Orphanet:404469/ntbt"} xref: Orphanet:404469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -417516,7 +416834,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X-linked dHMN" EXACT [Orphanet:404538] synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538] -xref: GARD:21724 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G12.2 {source="Orphanet:404538/attributed", source="Orphanet:404538/ntbt", source="Orphanet:404538"} xref: Orphanet:404538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -417570,7 +416887,6 @@ name: obsolete dysostosis of genetic origin def: "OBSOLETE. An instance of dysostosis that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:404568"} synonym: "genetic dysostosis" EXACT [MONDO:patterns/genetic] -xref: GARD:21725 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:404568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -417584,7 +416900,6 @@ id: MONDO:0018455 name: obsolete dysostosis of genetic origin with limb anomaly as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404571"} -xref: GARD:21726 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:404571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -417617,7 +416932,6 @@ name: obsolete rare genetic bone development disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404584"} synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584] -xref: GARD:21730 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:404584 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418341,7 +417655,6 @@ id: MONDO:0018488 name: obsolete rare genetic odontal or periodontal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:420755"} -xref: GARD:21748 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:420755 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418519,7 +417832,6 @@ is_a: MONDO:0019236 {source="Orphanet:423479"} ! inborn disorder of purine metab id: MONDO:0018496 name: obsolete ARX-related encephalopathy-brain malformation spectrum subset: ordo_group_of_disorders {source="Orphanet:423655"} -xref: GARD:21753 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423655 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015620 {source="Orphanet:423655", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic urogenital tract malformation relationship: excluded_subClassOf MONDO:0015921 {source="Orphanet:423655", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete ARX-related epileptic encephalopathy @@ -418537,7 +417849,6 @@ def: "OBSOLETE. Rare autonomic nervous system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423662"} synonym: "rare autonomic nervous system disease" EXACT [MONDO:patterns/rare] -xref: GARD:21754 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423662 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418606,7 +417917,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423771"} synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare, Orphanet:423771] synonym: "rare stomach carcinoma" EXACT [] -xref: GARD:21757 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423771 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418700,7 +418010,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423793"} synonym: "rare small intestine neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare tumor of small bowel" EXACT [Orphanet:423793] -xref: GARD:21760 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418749,7 +418058,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423957"} synonym: "rare carcinoma of small bowel" EXACT [Orphanet:423957] synonym: "rare small intestine carcinoma" EXACT [MONDO:patterns/rare] -xref: GARD:21763 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423957 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418845,7 +418153,6 @@ def: "OBSOLETE. Any of the forms of epithelial tumor of colon that have a rare i subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423991"} synonym: "rare epithelial tumor of colon" EXACT [MONDO:patterns/rare] -xref: GARD:21767 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423991 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418901,7 +418208,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423998"} synonym: "rare epithelial neoplasm of rectum" EXACT [MONDO:patterns/rare] synonym: "rare rectal epithelial tumor" EXACT [Orphanet:423998] -xref: GARD:21769 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:423998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418982,7 +418288,6 @@ name: obsolete rare epithelial tumor of pancreas subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:424033"} synonym: "rare pancreatic epithelial tumor" EXACT [Orphanet:424033] -xref: GARD:21775 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:424033 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -419139,7 +418444,6 @@ id: MONDO:0018529 name: obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 subset: ordo_group_of_disorders {source="Orphanet:424925"} synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925] -xref: GARD:21784 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:424925 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -419152,7 +418456,6 @@ name: obsolete rare epithelial tumor of liver and intrahepatic biliary tract subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:424933"} synonym: "rare epithelial tumor of liver and IBT" EXACT [Orphanet:424933] -xref: GARD:21785 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:424933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -419207,7 +418510,6 @@ subset: ordo_disorder {source="Orphanet:424943"} synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943] synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943] -xref: GARD:21787 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C22.0 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: ICD10CM:C22.1 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: Orphanet:424943 {source="MONDO:obsoleteEquivalent"} @@ -419331,7 +418633,6 @@ intersection_of: MONDO:0018918 ! carcinoma of gallbladder and extrahepatic bilia id: MONDO:0018538 name: obsolete inherited digestive cancer-predisposing syndrome subset: ordo_group_of_disorders {source="Orphanet:425003"} -xref: GARD:21793 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:425003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -419346,7 +418647,6 @@ name: obsolete rare epithelial tumor of small intestine subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:425368"} synonym: "rare epithelial tumor of small bowel" EXACT [Orphanet:425368] -xref: GARD:21794 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:425368 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -419544,7 +418844,6 @@ id: MONDO:0018545 name: obsolete primary immunodeficiency with predisposition to severe viral infection subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:431156"} -xref: GARD:21795 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:431156 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -419610,7 +418909,6 @@ comment: Reason: out of scope. This is an Orphanet grouping class that is consid subset: ordo_group_of_disorders {source="Orphanet:431263"} synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [Orphanet:431263] synonym: "late-onset SPMD with hyaline bodies" EXACT [Orphanet:431263] -xref: GARD:21796 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:431263 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -419622,7 +418920,6 @@ id: MONDO:0018550 name: obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder subset: ordo_group_of_disorders {source="Orphanet:431320"} synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320] -xref: GARD:21797 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:431320 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -419807,7 +419104,6 @@ def: "OBSOLETE. Rare genetic autonomic nervous system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:434786"} synonym: "rare genetic autonomic nervous system disease" EXACT [] -xref: GARD:21802 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:434786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -419818,7 +419114,6 @@ id: MONDO:0018558 name: obsolete syndrome with wooly hair comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:434809"} -xref: GARD:21803 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:434809 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -419853,7 +419148,6 @@ name: obsolete anterior urethral valve comment: out of scope {source="MONDO:excludePhenotype"} subset: ordo_disorder {source="Orphanet:435372"} subset: ordo_morphological_anomaly {source="Orphanet:435372"} -xref: GARD:21805 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q64.7 {source="Orphanet:435372/attributed", source="Orphanet:435372/ntbt", source="Orphanet:435372"} xref: Orphanet:435372 {source="MONDO:obsoleteEquivalent"} xref: SCTID:253907008 {source="MONDO:obsoleteEquivalent"} @@ -419883,7 +419177,6 @@ id: MONDO:0018562 name: obsolete hereditary otorhinolaryngological malformation subset: ordo_group_of_disorders {source="Orphanet:435603"} synonym: "genetic otorhinolaryngological malformation" EXACT [Orphanet:435603] -xref: GARD:21809 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435603 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -420118,7 +419411,6 @@ name: obsolete intellectual disability-expressive aphasia-facial dysmorphism syn subset: ordo_disorder {source="Orphanet:436151"} subset: otar {source="MONDO:OTAR"} synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151] -xref: GARD:17724 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.0 {source="Orphanet:436151", source="Orphanet:436151/attributed", source="Orphanet:436151/ntbt"} xref: Orphanet:436151 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:436151", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -420133,7 +419425,6 @@ id: MONDO:0018575 name: obsolete microcephalic primordial dwarfism-insulin resistance syndrome subset: ordo_disorder {source="Orphanet:436182"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17728 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.1 {source="Orphanet:436182", source="Orphanet:436182/attributed", source="Orphanet:436182/ntbt"} xref: Orphanet:436182 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0005015 {source="MONDO:0015885-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! diabetes mellitus @@ -420194,7 +419485,6 @@ name: obsolete disorder of ketone body transport subset: ordo_group_of_disorders {source="Orphanet:438072"} synonym: "disorder of keton body transport" RELATED DUBIOUS [Orphanet:438072] synonym: "disorder of ketone body transport" EXACT [] -xref: GARD:21821 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:438072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -420207,7 +419497,6 @@ id: MONDO:0018580 name: obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome subset: ordo_disorder {source="Orphanet:438213"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17739 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G40.4 {source="Orphanet:438213/attributed", source="Orphanet:438213/ntbt", source="Orphanet:438213"} xref: Orphanet:438213 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -420547,7 +419836,6 @@ def: "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermedi subset: ordo_disorder {source="Orphanet:44"} synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559] synonym: "NALD" EXACT ABBREVIATION [Orphanet:44] -xref: GARD:559 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E71.3 {source="Orphanet:44/attributed", source="Orphanet:44/ntbt", source="Orphanet:44"} xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"} xref: MESH:D018901 {source="Orphanet:44", source="Orphanet:44/e"} @@ -420758,7 +420046,6 @@ def: "OBSOLETE. A hereditary optic neuropathy that is part of a larger syndrome. subset: ordo_group_of_disorders {source="Orphanet:441434"} synonym: "syndrome associated with hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hereditary optic neuropathy" EXACT [MONDO:patterns/syndromic] -xref: GARD:21845 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:441434 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -420964,7 +420251,6 @@ id: MONDO:0018618 name: obsolete 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:443090"} -xref: GARD:21848 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:443090 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -421133,7 +420419,6 @@ relationship: disease_has_feature HP:0001662 ! Bradycardia id: MONDO:0018627 name: obsolete ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: ACTH-independent Cushing syndrome' -xref: GARD:21856 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:443287 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -421583,7 +420868,6 @@ def: "OBSOLETE. A vision disorder that results from damage of the part of the ce subset: ordo_clinical_syndrome {source="Orphanet:447788"} subset: ordo_disorder {source="Orphanet:447788"} synonym: "cortical visual impairment" EXACT [Orphanet:447788] -xref: GARD:21871 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H47.6 {source="Orphanet:447788/ntbt", source="Orphanet:447788", source="MONDO:directSiblingOf"} xref: NCIT:C35275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447788 {source="MONDO:obsoleteEquivalent"} @@ -421605,7 +420889,6 @@ name: obsolete lipoyl transferase 2 deficiency comment: This is a biological anomaly and not a disease. subset: ordo_biological_anomaly {source="Orphanet:447795"} subset: ordo_disorder {source="Orphanet:447795"} -xref: GARD:21872 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447795 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI @@ -421617,7 +420900,6 @@ name: obsolete biological anomaly without phenotypic characterization comment: This is a biological anomaly and not a disease. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:447874"} -xref: GARD:21873 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447874 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/181" xsd:anyURI @@ -422699,7 +421981,6 @@ id: MONDO:0018699 name: obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:457059"} -xref: GARD:5770 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:457059 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -422708,7 +421989,6 @@ id: MONDO:0018700 name: obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:457062"} -xref: GARD:21900 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:457062 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -422717,7 +421997,6 @@ id: MONDO:0018701 name: obsolete congenital nemaline myopathy subset: ordo_group_of_disorders {source="Orphanet:457074"} subset: otar {source="MONDO:OTAR"} -xref: GARD:21901 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:457074 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -422792,7 +422071,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0018706 name: obsolete syndromic sensorineural deafness due to combined oxidative phosphorylation defect -xref: GARD:17799 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6910" xsd:anyURI is_obsolete: true @@ -423002,7 +422280,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018718 name: obsolete vascular tumor with associated anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular neoplasm' -xref: GARD:21913 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:458827 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -423014,7 +422291,6 @@ id: MONDO:0018719 name: obsolete obsolete rare capillary malformation with associated anomalies comment: A grouping term that is probably not used clinically. subset: ordo_group_of_disorders {source="Orphanet:458830"} -xref: GARD:21914 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:458830 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1727" xsd:anyURI @@ -423027,7 +422303,6 @@ consider: MONDO:0016231 id: MONDO:0018720 name: obsolete common cystic lymphatic malformation subset: ordo_group_of_disorders {source="Orphanet:458833"} -xref: GARD:21915 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:458833 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -423041,7 +422316,6 @@ id: MONDO:0018721 name: obsolete rare combined vascular malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:458837"} -xref: GARD:21916 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:458837 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -423060,7 +422334,6 @@ id: MONDO:0018723 name: obsolete rare vascular malformation of major vessels subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:458844"} -xref: GARD:21917 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:458844 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -423119,7 +422392,6 @@ id: MONDO:0018727 name: obsolete immunodeficiency due to a complement regulatory deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:459348"} -xref: GARD:21920 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459348 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 @@ -423132,7 +422404,6 @@ id: MONDO:0018728 name: obsolete rare genetic capillary malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:459526"} -xref: GARD:21921 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459526 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -423146,7 +422417,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:459543"} synonym: "genetic rare vascular tumor" EXACT [MONDO:patterns/genetic] synonym: "rare genetic vascular tumor" EXACT [Orphanet:459543] -xref: GARD:21923 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459543 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -423161,7 +422431,6 @@ def: "OBSOLETE. An instance of rare venous malformation that is caused by a modi subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:459548"} synonym: "genetic rare venous malformation" EXACT [MONDO:patterns/genetic] -xref: GARD:21924 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459548 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -423172,7 +422441,6 @@ is_obsolete: true id: MONDO:0018731 name: obsolete lethal multiple congenital anomalies/dysmorphic syndrome subset: ordo_group_of_disorders {source="Orphanet:459787"} -xref: GARD:21925 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459787 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -423381,7 +422649,6 @@ is_a: MONDO:0021223 {source="MONDO:0018972-obsoleted"} ! digestive system neopla id: MONDO:0018743 name: obsolete immune-mediated acquired neuromuscular junction disease subset: ordo_group_of_disorders {source="Orphanet:464764"} -xref: GARD:21933 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:464764 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -423413,7 +422680,6 @@ id: MONDO:0018745 name: obsolete superficial pemphigus def: "OBSOLETE. Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants." [Orphanet:46485] subset: ordo_group_of_disorders {source="Orphanet:46485"} -xref: GARD:18833 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L10.2 {source="Orphanet:46485", source="Orphanet:46485/btnt"} xref: ICD10CM:L10.3 {source="Orphanet:46485", source="Orphanet:46485/btnt"} xref: ICD10CM:L10.4 {source="Orphanet:46485", source="Orphanet:46485/btnt"} @@ -423598,7 +422864,6 @@ id: MONDO:0018753 name: obsolete rare disease with malignant hyperthermia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:466658"} -xref: GARD:21937 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:466658 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -423680,7 +422945,6 @@ name: obsolete familial patent arterial duct def: "OBSOLETE. Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities." [Orphanet:466729] subset: ordo_disorder {source="Orphanet:466729"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17828 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:466729 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -423996,7 +423260,6 @@ synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347] synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347] -xref: GARD:21948 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:474347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -424061,6 +423324,11 @@ is_a: MONDO:0018943 {source="Orphanet:476093"} ! myofibrillar myopathy [Term] id: MONDO:0018774 name: obsolete erythrokeratodermia-cardiomyopathy syndrome +subset: gard_rare {source="GARD:21950", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} +xref: GARD:21950 {source="MONDO:obsoleteEquivalent", source="MONDO:GARD"} +xref: MEDGEN:1799559 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"} +xref: UMLS:C5568136 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN", source="MEDGEN:1799559"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7435" xsd:anyURI is_obsolete: true @@ -424073,7 +423341,6 @@ subset: clingen {source="MONDO:CLINGEN"} subset: ordo_group_of_disorders {source="Orphanet:476109"} subset: otar {source="MONDO:OTAR"} synonym: "axonal HMSN" EXACT [Orphanet:476109] -xref: GARD:21951 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:476109 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018775 {source="MONDO:CLINGEN"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -424143,7 +423410,6 @@ relationship: excluded_subClassOf MONDO:0015358 {source="Orphanet:476123", sourc id: MONDO:0018779 name: obsolete hypercontractile muscle stiffness syndrome subset: ordo_group_of_disorders {source="Orphanet:476403"} -xref: GARD:21955 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:476403 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424210,7 +423476,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:148210"} ! inheri id: MONDO:0018782 name: obsolete type 1 interferonopathy subset: otar {source="MONDO:OTAR"} -xref: GARD:21957 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI @@ -424271,7 +423536,6 @@ replaced_by: MONDO:0004187 id: MONDO:0018786 name: obsolete pontine autosomal dominant microangiopathy with leukoencephalopathy subset: otar {source="MONDO:OTAR"} -xref: GARD:17855 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6368" xsd:anyURI is_obsolete: true @@ -424281,7 +423545,6 @@ replaced_by: MONDO:0032814 id: MONDO:0018787 name: obsolete genetic cerebral small vessel disease subset: ordo_group_of_disorders {source="Orphanet:477754"} -xref: GARD:21960 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477754 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424294,7 +423557,6 @@ name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease subset: ordo_group_of_disorders {source="Orphanet:477759"} subset: otar {source="MONDO:OTAR"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759] -xref: GARD:21961 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424308,7 +423570,6 @@ name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ische comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' subset: ordo_group_of_disorders {source="Orphanet:477762"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency" EXACT [Orphanet:477762] -xref: GARD:21962 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477762 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -424321,7 +423582,6 @@ name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemor comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' subset: ordo_group_of_disorders {source="Orphanet:477765"} synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency" EXACT [Orphanet:477765] -xref: GARD:21963 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477765 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -424333,7 +423593,6 @@ id: MONDO:0018791 name: obsolete Moyomoya angiopathy def: "OBSOLETE. A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels." [PMID:32089044] subset: ordo_group_of_disorders {source="Orphanet:477768"} -xref: GARD:21964 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477768 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424348,7 +423607,6 @@ comment: Redundant with moyamoya disease, and the children were incorrectly clas subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477771"} synonym: "rare disorder with a Moyamoya angiopathy" RELATED [Orphanet:477771] -xref: GARD:21965 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477771 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1767" xsd:anyURI is_obsolete: true @@ -424421,7 +423679,6 @@ name: obsolete isolated constitutional thrombocytopenia subset: ordo_group_of_disorders {source="Orphanet:477797"} synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797] synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797] -xref: GARD:21968 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477797 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424434,7 +423691,6 @@ id: MONDO:0018797 name: obsolete genetic cardiac malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477805"} -xref: GARD:21969 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1175" xsd:anyURI is_obsolete: true @@ -424445,7 +423701,6 @@ id: MONDO:0018798 name: obsolete other genetic dermis disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477808"} -xref: GARD:21970 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477808 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -424458,7 +423713,6 @@ def: "OBSOLETE. Rare hypercholesterolemia." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477811"} synonym: "rare hypercholesterolemia" EXACT [] -xref: GARD:21971 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:477811 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -424705,7 +423959,6 @@ id: MONDO:0018812 name: obsolete MSH3-related attenuated familial adenomatous polyposis subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -xref: GARD:17868 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018812 {source="MONDO:CLINGEN"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6909" xsd:anyURI @@ -425094,7 +424347,6 @@ name: obsolete HTRA1-related cerebral small vessel disease subset: ordo_group_of_disorders {source="Orphanet:482072"} subset: otar {source="MONDO:OTAR"} synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072] -xref: GARD:21988 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:482072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -425124,7 +424376,6 @@ id: MONDO:0018833 name: obsolete rare idiopathic macular telangiectasia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:482092"} -xref: GARD:21989 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:482092 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -426422,7 +425673,6 @@ name: obsolete rare teratologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:52662"} synonym: "acquired embryofetopathy" EXACT [Orphanet:52662] -xref: GARD:22505 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:52662 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -426616,7 +425866,6 @@ def: "OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease tha subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:535"} synonym: "rare cutaneous lupus erythematosus" EXACT [MONDO:patterns/rare] -xref: GARD:6225 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:L93.0 {source="Orphanet:535", source="Orphanet:535/btnt"} xref: ICD10CM:L93.1 {source="Orphanet:535", source="Orphanet:535/btnt"} xref: ICD10CM:L93.2 {source="Orphanet:535", source="Orphanet:535/btnt"} @@ -426631,7 +425880,6 @@ replaced_by: MONDO:0005282 id: MONDO:0018888 name: obsolete congenital cornea plana subset: otar {source="MONDO:OTAR"} -xref: GARD:16657 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} 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/5114" xsd:anyURI @@ -427406,7 +426654,6 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:557"} subset: otar {source="MONDO:OTAR"} synonym: "nonsyndromic anorectal malformation" EXACT [MONDO:patterns/isolated] -xref: GARD:16534 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q42.0 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} xref: ICD10CM:Q42.1 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} xref: ICD10CM:Q42.2 {source="Orphanet:557", source="Orphanet:557/e", source="Orphanet:557/specific"} @@ -427751,7 +426998,6 @@ def: "OBSOLETE. Rare liver disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:57146"} synonym: "rare liver disease" EXACT [MONDO:patterns/rare] -xref: GARD:22506 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:57146 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -429094,7 +428340,6 @@ name: obsolete rare epithelial tumor of stomach subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:63443"} synonym: "rare gastric epithelial tumor" EXACT [Orphanet:63443] -xref: GARD:18857 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:63443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430837,7 +430082,6 @@ name: obsolete rare maxillo-facial surgical disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68329"} synonym: "rare maxillofacial anomaly" EXACT [Orphanet:68329] -xref: GARD:22507 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68329 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430851,7 +430095,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68334"} synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] -xref: GARD:18873 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68334 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430906,7 +430149,6 @@ name: obsolete rare genetic inherited tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68336"} synonym: "rare genetic tumor" RELATED [Orphanet:68336] -xref: GARD:18875 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68336 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -430935,7 +430177,6 @@ name: obsolete rare genetic skin disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68346"} synonym: "rare genodermatosis" EXACT [Orphanet:68346] -xref: GARD:18877 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -430945,7 +430186,6 @@ replaced_by: MONDO:0005093 id: MONDO:0019044 name: obsolete tumor of hematopoietic and lymphoid tissues subset: ordo_group_of_disorders {source="Orphanet:68347"} -xref: GARD:18878 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -430962,7 +430202,6 @@ subset: ordo_group_of_disorders {source="Orphanet:68354"} synonym: "rare sleep disorder" EXACT [MONDO:patterns/rare] synonym: "rare sleep wake disorder" EXACT [MONDO:patterns/rare] synonym: "rare sleep-wake disorder" EXACT [MONDO:patterns/rare] -xref: GARD:18879 {source="MONDO:obsoleteEquivalent"} xref: MedDRA:10040984 {source="Orphanet:68354/e", source="Orphanet:68354"} xref: MESH:D012893 {source="MONDO:relatedTo", source="Orphanet:68354/e", source="Orphanet:68354"} xref: Orphanet:68354 {source="MONDO:obsoleteEquivalent"} @@ -431020,7 +430259,6 @@ subset: ordo_group_of_disorders {source="Orphanet:68361"} synonym: "complete deafness" EXACT [NCIT:C36194] synonym: "rare hearing loss" EXACT [MONDO:patterns/rare] synonym: "total deafness" EXACT [NCIT:C36194] -xref: GARD:18880 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C36194 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68361 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -431034,7 +430272,6 @@ def: "OBSOLETE. Any of the forms of vascular disease that have a rare incidence. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68362"} synonym: "rare vascular disease" EXACT [MONDO:patterns/rare] -xref: GARD:18881 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68362 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -431049,7 +430286,6 @@ subset: ordo_group_of_disorders {source="Orphanet:68363"} synonym: "rare dystonia" EXACT [] synonym: "rare dystonia (disease)" EXACT [MONDO:patterns/rare] synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare, Orphanet:68363] -xref: GARD:18882 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68363 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -431246,7 +430482,6 @@ replaced_by: MONDO:0001713 id: MONDO:0019058 name: obsolete neurometabolic disease subset: ordo_group_of_disorders {source="Orphanet:68385"} -xref: GARD:18890 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68385 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginProcess"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -431261,7 +430496,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68402"} synonym: "rare hypokinetic movement disorder" EXACT [Orphanet:68402] synonym: "rare parkinsonian disorder" EXACT [MONDO:patterns/rare] -xref: GARD:18891 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68402 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -431321,7 +430555,6 @@ id: MONDO:0019061 name: obsolete rare parathyroid disease and phosphocalcic metabolism anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68415"} -xref: GARD:18893 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68415 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -431335,7 +430568,6 @@ def: "OBSOLETE. Rare infectious disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68416"} synonym: "rare infectious disease" EXACT [MONDO:patterns/rare] -xref: GARD:22509 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68416 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -431347,7 +430579,6 @@ name: obsolete vascular anomaly subset: ordo_group_of_disorders {source="Orphanet:68419"} subset: otar {source="MONDO:OTAR"} synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419] -xref: GARD:18894 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68419 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare circulatory system disease @@ -431456,7 +430687,6 @@ def: "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:69028"} synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028] -xref: GARD:18895 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q73.8 {source="Orphanet:69028/attributed", source="Orphanet:69028/ntbt", source="Orphanet:69028"} xref: Orphanet:69028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -431863,6 +431093,7 @@ name: carcinoma of esophagus def: "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)." [Orphanet:70482] subset: disease_grouping subset: gard_rare {source="GARD:6383", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:70482"} subset: otar {source="MONDO:OTAR"} subset: rare @@ -431873,6 +431104,7 @@ synonym: "cancer of the oesophagus" NARROW OMO:0003005 [] synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513] synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513] synonym: "carcinoma of the oesophagus" EXACT OMO:0003005 [] +synonym: "Esophageal cancer" EXACT [] synonym: "esophageal cancer" NARROW [NCIT:C3513] synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513] synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482] @@ -432136,7 +431368,6 @@ def: "OBSOLETE. Rare pulmonary hypertension." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71198"} synonym: "rare pulmonary hypertension" EXACT [MONDO:patterns/rare] -xref: GARD:18904 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:71198 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -432154,7 +431385,6 @@ synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orp synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] -xref: GARD:18905 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.1 {source="Orphanet:71202", source="Orphanet:71202/attributed", source="Orphanet:71202/ntbt"} xref: Orphanet:71202 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -432191,7 +431421,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71209"} synonym: "rare mesenchymal tumor" EXACT [Orphanet:71209] synonym: "rare soft tissue neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:18907 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:71209 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -432416,7 +431645,6 @@ id: MONDO:0019110 name: obsolete rare central nervous system or retinal vascular disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71281"} -xref: GARD:18911 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:71281 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -432554,7 +431782,6 @@ subset: ordo_group_of_disorders {source="Orphanet:71859"} synonym: "genetic nervous system disorder" EXACT [MONDO:patterns/genetic] synonym: "genetic neurological disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "rare genetic neurological disorder" EXACT [Orphanet:71859] -xref: GARD:18915 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:71859 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432821,7 +432048,6 @@ def: "OBSOLETE. Intractable diarrhea of infancy (IDI) is a heterogeneous syndrom subset: ordo_group_of_disorders {source="Orphanet:73014"} subset: otar {source="MONDO:OTAR"} synonym: "IDI" EXACT ABBREVIATION [Orphanet:73014] -xref: GARD:18918 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:73014 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -433092,7 +432318,6 @@ relationship: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm id: MONDO:0019138 name: obsolete bleeding diathesis due to a collagen receptor defect subset: ordo_disorder {source="Orphanet:73271"} -xref: GARD:16691 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.8 {source="Orphanet:73271/attributed", source="Orphanet:73271/ntbt", source="Orphanet:73271"} xref: Orphanet:73271 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -433464,7 +432689,6 @@ def: "OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart d subset: ordo_disorder {source="Orphanet:75249"} subset: otar {source="MONDO:OTAR"} synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249] -xref: GARD:16692 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I42.5 {source="Orphanet:75249", source="Orphanet:75249/e", source="Orphanet:75249/specific"} xref: Orphanet:75249 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -434188,7 +433412,6 @@ name: obsolete infantile Refsum disease def: "OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD)." [Orphanet:772] subset: ordo_disorder {source="Orphanet:772"} xref: DOID:0050444 {source="MONDO:obsoleteEquivalent"} -xref: GARD:4648 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.1 {source="Orphanet:772/attributed", source="Orphanet:772/ntbt", source="Orphanet:772"} xref: MESH:D052919 {source="MONDO:obsoleteEquivalent", source="Orphanet:772/e", source="Orphanet:772"} xref: NANDO:1200762 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -434228,7 +433451,6 @@ def: "OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malforma subset: ordo_disorder {source="Orphanet:77258"} subset: otar {source="MONDO:OTAR"} synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258] -xref: GARD:15017 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="Orphanet:77258/attributed", source="Orphanet:77258/ntbt"} xref: Orphanet:77258 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -434423,7 +433645,6 @@ id: MONDO:0019183 name: obsolete inherited odontologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:77830"} -xref: GARD:18936 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:77830 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -435223,7 +434444,6 @@ def: "OBSOLETE. A inherited organic acidemia that involves the brain." [MONDO:pa subset: ordo_group_of_disorders {source="Orphanet:79158"} synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern] -xref: GARD:18945 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1644149132 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79158"} xref: Orphanet:79158 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -435441,7 +434661,6 @@ synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:7917 synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT [] synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: GARD:18955 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E72.8 {source="Orphanet:79175", source="Orphanet:79175/attributed", source="Orphanet:79175/ntbt"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -435503,7 +434722,6 @@ synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179] synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol metabolic process disorder" EXACT [] synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -xref: GARD:18958 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:61192754 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79179"} xref: Orphanet:79179 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -436064,7 +435282,6 @@ id: MONDO:0019252 name: obsolete other metabolic disease with skin involvement subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79217"} -xref: GARD:18978 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79217 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -436522,7 +435739,6 @@ is_a: MONDO:0019268 {source="Orphanet:79355"} ! epidermal disease id: MONDO:0019271 name: obsolete acrokeratoderma subset: ordo_group_of_disorders {source="Orphanet:79356"} -xref: GARD:18987 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:79356/ntbt", source="Orphanet:79356"} xref: Orphanet:79356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -436569,7 +435785,6 @@ id: MONDO:0019274 name: obsolete other epidermal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79359"} -xref: GARD:18990 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79359 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -436580,7 +435795,6 @@ id: MONDO:0019275 name: obsolete other genetic epidermal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79360"} -xref: GARD:18991 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79360 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -436620,7 +435834,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0019277 name: obsolete epidermal appendage anomaly subset: ordo_group_of_disorders {source="Orphanet:79362"} -xref: GARD:18993 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79362 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436682,7 +435895,6 @@ id: MONDO:0019281 name: obsolete isolated genetic hair shaft abnormality subset: ordo_group_of_disorders {source="Orphanet:79366"} synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366] -xref: GARD:18997 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79366 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436693,7 +435905,6 @@ is_obsolete: true id: MONDO:0019282 name: obsolete syndromic hair shaft abnormality subset: ordo_group_of_disorders {source="Orphanet:79367"} -xref: GARD:18998 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79367 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingMorpho"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436750,7 +435961,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79370"} synonym: "syndrome associated with nail anomaly" EXACT [MONDO:patterns/syndromic] synonym: "syndromic nail anomaly" EXACT [MONDO:patterns/syndromic] -xref: GARD:19001 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79370 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436764,7 +435974,6 @@ def: "OBSOLETE. A epidermal appendage anomaly that involves the sebaceous gland. subset: ordo_group_of_disorders {source="Orphanet:79372"} synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern] synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location] -xref: GARD:19002 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79372 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436867,7 +436076,6 @@ name: obsolete rare genetic dermis disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79377"} synonym: "dermis disorder" RELATED [Orphanet:79377] -xref: GARD:19006 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79377 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -436877,7 +436085,6 @@ replaced_by: MONDO:0021154 id: MONDO:0019292 name: obsolete dermis elastic tissue disorder subset: ordo_group_of_disorders {source="Orphanet:79378"} -xref: GARD:19007 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:228215 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:79378 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019291 {source="MONDO:Redundant", source="Orphanet:79378", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic dermis disorder @@ -436998,7 +436205,6 @@ subset: ordo_group_of_disorders {source="Orphanet:79384"} synonym: "rare hives" EXACT [MONDO:patterns/rare] synonym: "rare urticaria" EXACT [MONDO:patterns/rare] synonym: "rare urticaria (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19012 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79384 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -437009,7 +436215,6 @@ id: MONDO:0019299 name: obsolete unclassified genetic skin disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79385"} -xref: GARD:19013 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79385 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2494" xsd:anyURI @@ -437021,7 +436226,6 @@ id: MONDO:0019300 name: obsolete rare skin tumor or hamartoma subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79386"} -xref: GARD:19014 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79386 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -437030,7 +436234,6 @@ id: MONDO:0019301 name: obsolete metabolic disease with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:79387"} -xref: GARD:19015 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79387 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -437075,7 +436278,6 @@ name: obsolete rare photodermatosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79390"} synonym: "rare skin photosensitivity" EXACT [Orphanet:79390] -xref: GARD:19018 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79390 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -437087,7 +436289,6 @@ id: MONDO:0019305 name: obsolete immune deficiency with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immune system disease' subset: ordo_group_of_disorders {source="Orphanet:79391"} -xref: GARD:19019 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:79391 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -441714,7 +440915,6 @@ replaced_by: MONDO:0005764 id: MONDO:0019482 name: obsolete dendritic cell sarcoma not otherwise specified subset: nord_rare {source="MONDO:NORD"} -xref: GARD:19082 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7175" xsd:anyURI is_obsolete: true @@ -441790,7 +440990,6 @@ relationship: has_characteristic MONDO:0700005 {source="Orphanet:86908"} ! idiop id: MONDO:0019486 name: obsolete myoclonic epilepsy of infancy subset: otar {source="MONDO:OTAR"} -xref: GARD:19086 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5740" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -441893,7 +441092,6 @@ def: "OBSOLETE. Rare intellectual disability." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:87277"} synonym: "rare intellectual disability" EXACT [MONDO:patterns/rare] -xref: GARD:19090 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:87277 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -442296,7 +441494,6 @@ def: "OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrom subset: ordo_subtype_of_a_disorder {source="Orphanet:88637"} subset: otar {source="MONDO:OTAR"} synonym: "4H syndrome" EXACT [Orphanet:88637] -xref: GARD:16771 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.1 {source="Orphanet:88637", source="Orphanet:88637/attributed", source="Orphanet:88637/ntbt"} xref: Orphanet:88637 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0011897 {source="Orphanet:88637", source="Orphanet:88637/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome @@ -442459,7 +441656,6 @@ relationship: disease_has_location UBERON:0004535 {source="EFO:0000784"} ! cardi id: MONDO:0019513 name: obsolete esophageal malformation subset: ordo_group_of_disorders {source="Orphanet:88993"} -xref: GARD:19095 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1999264345 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:88993"} xref: Orphanet:88993 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -442506,7 +441702,6 @@ def: "OBSOLETE. Rare dementia." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:89043"} synonym: "rare dementia" EXACT [MONDO:patterns/rare] -xref: GARD:19096 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:89043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -442613,7 +441808,6 @@ def: "OBSOLETE. Rare skin disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:89826"} synonym: "rare skin disease" EXACT [MONDO:patterns/rare] -xref: GARD:22510 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:89826 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -443100,7 +442294,6 @@ name: obsolete non-infectious posterior uveitis subset: ordo_group_of_disorders {source="Orphanet:90061"} subset: otar {source="MONDO:OTAR"} synonym: "non-infectious choroiditis" EXACT [Orphanet:90061] -xref: GARD:19111 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H30.0 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: ICD10CM:H30.1 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: icd11.foundation:2140734738 {source="Orphanet:90061", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} @@ -443192,7 +442385,6 @@ id: MONDO:0019546 name: obsolete other acquired skin disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90077"} -xref: GARD:19119 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:90077 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -444224,7 +443416,6 @@ subset: ordo_group_of_disorders {source="Orphanet:90642"} synonym: "obsolete syndromic genetic hearing loss" EXACT CLINGEN_LABEL [] synonym: "syndromic genetic deafness" NARROW [] synonym: "syndromic hearing loss" BROAD [] -xref: GARD:19145 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H90.3 {source="Orphanet:90642", source="Orphanet:90642/attributed", source="Orphanet:90642/ntbt"} xref: icd11.foundation:186534168 {source="MONDO:obsoleteEquivalent", source="Orphanet:90642", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:90642 {source="MONDO:obsoleteEquivalent"} @@ -444240,7 +443431,6 @@ id: MONDO:0019590 name: obsolete rare endocrine growth disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90692"} -xref: GARD:19146 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:90692 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -444293,7 +443483,6 @@ name: obsolete 46,XX disorder of sex development induced by fetal androgens exce subset: ordo_group_of_disorders {source="Orphanet:90776"} synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 [] -xref: GARD:19148 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"} xref: Orphanet:90776 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -444309,7 +443498,6 @@ name: obsolete 46,XY disorder of sex development due to a testosterone synthesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90783"} synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [Orphanet:90783] -xref: GARD:19149 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:90783 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -444322,7 +443510,6 @@ name: obsolete 46,XY disorder of sex development due to adrenal and testicular s comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90786"} synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [Orphanet:90786] -xref: GARD:19150 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:90786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -444335,7 +443522,6 @@ name: obsolete 46,XY disorder of sex development due to testicular steroidogenes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90787"} synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787] -xref: GARD:19151 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E29.1 {source="Orphanet:90787", source="Orphanet:90787/attributed", source="Orphanet:90787/ntbt"} xref: Orphanet:90787 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -444348,7 +443534,6 @@ id: MONDO:0019597 name: obsolete 46,XY disorder of sex development due to isolated 17,20-lyase deficiency def: "OBSOLETE. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels." [Orphanet:90796] subset: ordo_disorder {source="Orphanet:90796"} -xref: GARD:16794 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E29.1 {source="Orphanet:90796", source="Orphanet:90796/attributed", source="Orphanet:90796/ntbt"} xref: Orphanet:90796 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -444372,7 +443557,6 @@ name: obsolete primary lipodystrophy def: "OBSOLETE. Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy)." [Orphanet:90970] subset: ordo_group_of_disorders {source="Orphanet:90970"} subset: otar {source="MONDO:OTAR"} -xref: GARD:12596 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E88.1 {source="Orphanet:90970", source="Orphanet:90970/attributed", source="Orphanet:90970/ntbt"} xref: Orphanet:90970 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -444431,7 +443615,6 @@ subset: ordo_group_of_disorders {source="Orphanet:91024"} synonym: "AR-CMT2" EXACT [Orphanet:91024] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024] synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:12449 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G60.0 {source="Orphanet:91024/inclusion", source="Orphanet:91024", source="Orphanet:91024/ntbt"} xref: Orphanet:91024 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingHeritability"} @@ -444445,7 +443628,6 @@ name: obsolete other inborn metabolic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:91088"} synonym: "other metabolic disease" RELATED [Orphanet:91088] -xref: GARD:19152 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:91088 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -444547,7 +443729,6 @@ id: MONDO:0019608 name: obsolete 46,XX disorder of sex development induced by maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:91144"} synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144] -xref: GARD:19156 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q56.2 {source="Orphanet:91144/ntbt", source="Orphanet:91144"} xref: icd11.foundation:293874628 {source="MONDO:obsoleteEquivalent", source="Orphanet:91144", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:91144 {source="MONDO:obsoleteEquivalent"} @@ -444862,7 +444043,6 @@ is_a: MONDO:0002254 {source="NCIT:C35300"} ! syndromic disease id: MONDO:0019619 name: obsolete duplication of the esophagus subset: ordo_group_of_disorders {source="Orphanet:91357"} -xref: GARD:19164 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q39.8 {source="Orphanet:91357", source="Orphanet:91357/attributed", source="Orphanet:91357/ntbt"} xref: Orphanet:91357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -446272,7 +445452,6 @@ def: "OBSOLETE. Rare bone disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93419"} synonym: "rare bone disease" EXACT [MONDO:patterns/rare] -xref: GARD:22511 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93419 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -446319,7 +445498,6 @@ subset: ordo_group_of_disorders {source="Orphanet:93423"} subset: otar {source="MONDO:OTAR"} synonym: "inborn error of sulphation" EXACT [MONDO:patterns/inborn_metabolic_disrupts] synonym: "sulphation disorder" EXACT [PMID:31633310] -xref: GARD:19188 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93423 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -446332,7 +445510,6 @@ is_obsolete: true [Term] id: MONDO:0019689 name: obsolete perlecan-related bone disorder -xref: GARD:19189 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93424 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -446382,7 +445559,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019692 name: obsolete multiple epiphyseal dysplasia and pseudoachondroplasia subset: ordo_group_of_disorders {source="Orphanet:93429"} -xref: GARD:19191 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q78.8 {source="Orphanet:93429/attributed", source="Orphanet:93429/ntbt", source="Orphanet:93429"} xref: icd11.foundation:2078345611 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:93429"} xref: Orphanet:93429 {source="MONDO:obsoleteEquivalent"} @@ -446398,7 +445574,6 @@ id: MONDO:0019693 name: obsolete multiple metaphyseal dysplasia subset: ordo_group_of_disorders {source="Orphanet:93430"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19192 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q78.5 {source="Orphanet:93430", source="Orphanet:93430/attributed", source="Orphanet:93430/ntbt"} xref: icd11.foundation:717143930 {source="Orphanet:93430", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93430 {source="MONDO:obsoleteEquivalent"} @@ -446473,7 +445648,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019697 name: obsolete mesomelic and rhizo-mesomelic dysplasia subset: ordo_group_of_disorders {source="Orphanet:93438"} -xref: GARD:19195 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:533702276 {source="MONDO:obsoleteEquivalent", source="Orphanet:93438", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93438 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -446506,7 +445680,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019699 name: obsolete slender bone dysplasia subset: ordo_group_of_disorders {source="Orphanet:93440"} -xref: GARD:19197 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:691657602 {source="Orphanet:93440", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93440 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -446595,7 +445768,6 @@ comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:93446"} synonym: "primary osteodysplasia with decreased bone density" EXACT [Orphanet:93446] synonym: "primary skeletal dysplasia with decreased bone density" EXACT [Orphanet:93446] -xref: GARD:19201 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93446 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -446609,7 +445781,6 @@ comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:93447"} synonym: "primary osteodysplasia with defective bone mineralization" EXACT [Orphanet:93447] synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [Orphanet:93447] -xref: GARD:19202 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93447 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -446656,7 +445827,6 @@ id: MONDO:0019709 name: obsolete cleidocranial dysplasia and isolated cranial ossification defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93451"} -xref: GARD:19206 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93451 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -446672,7 +445842,6 @@ id: MONDO:0019711 name: obsolete dysostosis with predominant vertebral and costal involvement subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93454"} -xref: GARD:19208 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:395969787 {source="MONDO:obsoleteEquivalent", source="Orphanet:93454", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93454 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -446681,7 +445850,6 @@ is_obsolete: true id: MONDO:0019712 name: obsolete patellar dysostosis subset: ordo_group_of_disorders {source="Orphanet:93455"} -xref: GARD:19209 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93455 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -446740,7 +445908,6 @@ name: obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy subset: ordo_group_of_disorders {source="Orphanet:93458"} synonym: "isolated polydactyly, syndactyly and/or hyperphalangy" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:19211 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93458 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -446782,7 +445949,6 @@ id: MONDO:0019717 name: obsolete chromosomal disease with overgrowth comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' subset: ordo_group_of_disorders {source="Orphanet:93461"} -xref: GARD:19214 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93461 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -446794,7 +445960,6 @@ id: MONDO:0019718 name: obsolete lethal chondrodysplasia subset: ordo_group_of_disorders {source="Orphanet:93465"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19215 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93465 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -446841,7 +446006,6 @@ synonym: "isolated congenital anomaly of kidney and urinary tract" EXACT [] synonym: "isolated renal or urinary tract malformation" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic renal or urinary tract malformation" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] -xref: GARD:19217 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:357506 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:93546 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93546", source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of kidney and urinary tract @@ -446859,7 +446023,6 @@ subset: ordo_group_of_disorders {source="Orphanet:93547"} synonym: "syndrome associated with congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic congenital anomaly of kidney and urinary tract" EXACT [MONDO:patterns/syndromic] synonym: "syndromic renal or urinary tract malformation" EXACT [MONDO:patterns/syndromic] -xref: GARD:19218 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93547 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019719 {source="MONDO:Redundant", source="Orphanet:93547", source="https://orcid.org/0000-0001-5208-3432"} ! congenital anomaly of kidney and urinary tract property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} @@ -447314,7 +446477,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019743 name: obsolete nephropathy secondary to a storage or other metabolic disease subset: ordo_group_of_disorders {source="Orphanet:93593"} -xref: GARD:19229 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93593 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -447326,7 +446488,6 @@ id: MONDO:0019744 name: obsolete rare renal tubular disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93603"} -xref: GARD:19230 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93603 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -447375,7 +446536,6 @@ id: MONDO:0019747 name: obsolete hematological disorder with renal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hematologic disease' subset: ordo_group_of_disorders {source="Orphanet:93614"} -xref: GARD:19231 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93614 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -447387,7 +446547,6 @@ id: MONDO:0019748 name: obsolete rare cause of hypertension subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93618"} -xref: GARD:19232 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93618 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -447401,7 +446560,6 @@ def: "OBSOLETE. Any of the forms of kidney neoplasm that have a rare incidence." subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93619"} synonym: "rare kidney neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:19233 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93619 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -447415,7 +446573,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93626"} synonym: "rare kidney disease" EXACT [MONDO:patterns/rare] synonym: "rare urinary system disease" EXACT [MONDO:patterns/rare] -xref: GARD:22512 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93626 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -447588,7 +446745,6 @@ synonym: "MIH type HPE" EXACT [Orphanet:93926] synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926] synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926] synonym: "Syntelencephaly" EXACT [Orphanet:93926] -xref: GARD:16832 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.2 {source="Orphanet:93926/attributed", source="Orphanet:93926/ntbt", source="Orphanet:93926"} xref: Orphanet:93926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -448414,7 +447570,6 @@ def: "OBSOLETE. Chronic hepatic porphyrias represent a sub-group of porphyrias. subset: otar {source="MONDO:OTAR"} synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern] -xref: GARD:19256 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E80.2 {source="Orphanet:95161/attributed", source="Orphanet:95161/ntbt", source="Orphanet:95161"} xref: Orphanet:95161 {source="MONDO:obsoleteEquivalentObsolete"} relationship: excluded_subClassOf MONDO:0019142 {source="Orphanet:95161", source="https://orcid.org/0000-0001-5208-3432"} ! inherited porphyria @@ -448799,7 +447954,6 @@ is_a: MONDO:0020289 {source="Orphanet:95462"} ! congenital tricuspid malformatio id: MONDO:0019816 name: obsolete anomaly of the tricuspid subvalvular apparatus subset: ordo_group_of_disorders {source="Orphanet:95463"} -xref: GARD:19265 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q22.8 {source="Orphanet:95463", source="Orphanet:95463/ntbt"} xref: Orphanet:95463 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -448893,7 +448047,6 @@ id: MONDO:0019822 name: obsolete arterial duct anomaly subset: ordo_group_of_disorders {source="Orphanet:95485"} synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485] -xref: GARD:19270 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95485 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -448975,7 +448128,6 @@ name: obsolete disease associated with non-acquired combined pituitary hormone d comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: non-acquired combined pituitary hormone deficiency' subset: ordo_group_of_disorders {source="Orphanet:95495"} synonym: "secondary non-acquired combined pituitary hormone deficiency" EXACT [https://orcid.org/0000-0002-6601-2165] -xref: GARD:19274 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95495 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -449057,7 +448209,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019831 name: obsolete congenital anomaly of the coronary sinus subset: ordo_group_of_disorders {source="Orphanet:95500"} -xref: GARD:19277 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q21.1 {source="Orphanet:95500/ntbt", source="Orphanet:95500"} xref: Orphanet:95500 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -449092,7 +448243,6 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0019833 name: obsolete pituitary hormone deficiency from tumoral origin subset: ordo_group_of_disorders {source="Orphanet:95503"} -xref: GARD:19279 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95503 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -449103,7 +448253,6 @@ consider: MONDO:0015127 id: MONDO:0019834 name: obsolete pituitary hormone deficiency from meningeal origin subset: ordo_group_of_disorders {source="Orphanet:95505"} -xref: GARD:19280 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95505 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -449163,7 +448312,6 @@ name: obsolete atrial appendage anomaly subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:95510"} synonym: "atrial auricle anomaly" EXACT [Orphanet:95510] -xref: GARD:19283 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q20.8 {source="Orphanet:95510/ntbt", source="Orphanet:95510"} xref: Orphanet:95510 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -449230,7 +448378,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/511/acro-pec id: MONDO:0019841 name: obsolete pituitary hormone defiency from vascular origin subset: ordo_group_of_disorders {source="Orphanet:95611"} -xref: GARD:19286 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:95611", source="Orphanet:95611/ntbt"} xref: Orphanet:95611 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} @@ -449248,7 +448395,6 @@ replaced_by: MONDO:0006908 id: MONDO:0019843 name: obsolete pituitary hormone deficiency secondary to a granulomatous disease subset: ordo_group_of_disorders {source="Orphanet:95617"} -xref: GARD:19288 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95617 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -449259,7 +448405,6 @@ consider: MONDO:0015127 id: MONDO:0019844 name: obsolete pituitary hormone deficiency secondary to storage disease subset: ordo_group_of_disorders {source="Orphanet:95618"} -xref: GARD:19289 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:95618 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019832 {source="Orphanet:95618", source="https://orcid.org/0000-0001-5208-3432"} ! acquired pituitary hormone deficiency property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -449419,7 +448564,6 @@ def: "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. subset: ordo_group_of_disorders {source="Orphanet:95711"} synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711] -xref: GARD:19295 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E03.1 {source="Orphanet:95711", source="Orphanet:95711/attributed", source="Orphanet:95711/ntbt"} xref: Orphanet:95711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -449474,7 +448618,6 @@ name: obsolete primary congenital hypothyroidism without thyroid developmental a def: "OBSOLETE. Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal." [Orphanet:95714] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary congenital hypothyroidism' subset: ordo_group_of_disorders {source="Orphanet:95714"} -xref: GARD:19296 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E03.0 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} xref: ICD10CM:E03.1 {source="Orphanet:95714/attributed", source="Orphanet:95714/ntbt", source="Orphanet:95714"} xref: Orphanet:95714 {source="MONDO:obsoleteEquivalent"} @@ -449528,7 +448671,6 @@ id: MONDO:0019859 name: obsolete congenital thyroid malformation without hypothyroidism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: thyroid gland disease' subset: ordo_group_of_disorders {source="Orphanet:95718"} -xref: GARD:19299 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q89.2 {source="Orphanet:95718/ntbt", source="Orphanet:95718"} xref: Orphanet:95718 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -451390,7 +450532,6 @@ id: MONDO:0019936 name: obsolete rare otorhinolaryngological malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96333"} -xref: GARD:19350 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:96333 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -451402,7 +450543,6 @@ id: MONDO:0019937 name: obsolete rare gynecologic or obstetric disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:96344"} -xref: GARD:22514 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:96344 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452080,7 +451220,6 @@ def: "OBSOLETE. Any of the forms of ovarian benign neoplasm that have a rare inc subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97293"} synonym: "rare ovarian benign neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:19363 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97293 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452663,7 +451802,6 @@ def: "OBSOLETE. Rare heart disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97929"} synonym: "rare heart disease" EXACT [MONDO:patterns/rare] -xref: GARD:22515 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97929 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452674,7 +451812,6 @@ id: MONDO:0019997 name: obsolete rare gastroenterologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97935"} -xref: GARD:22516 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97935 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452684,7 +451821,6 @@ replaced_by: MONDO:0000001 id: MONDO:0019998 name: obsolete gastroduodenal malformation subset: ordo_group_of_disorders {source="Orphanet:97944"} -xref: GARD:19383 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97944 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -452695,7 +451831,6 @@ is_obsolete: true id: MONDO:0019999 name: obsolete intestinal malformation subset: ordo_group_of_disorders {source="Orphanet:97945"} -xref: GARD:19384 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97945 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -452709,7 +451844,6 @@ def: "OBSOLETE. Rare respiratory system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97955"} synonym: "rare respiratory system disease" EXACT [MONDO:patterns/rare] -xref: GARD:22517 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97955 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452733,7 +451867,6 @@ id: MONDO:0020002 name: obsolete rare surgical thoracic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97962"} -xref: GARD:22518 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97962 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452744,7 +451877,6 @@ id: MONDO:0020003 name: obsolete rare surgical cardiac disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97965"} -xref: GARD:22519 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97965 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452757,7 +451889,6 @@ def: "OBSOLETE. Rare eye disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97966"} synonym: "rare eye disease" EXACT [MONDO:patterns/rare] -xref: GARD:22520 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97966 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452770,7 +451901,6 @@ def: "OBSOLETE. Rare endocrine system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97978"} synonym: "rare endocrine system disease" EXACT [MONDO:patterns/rare] -xref: GARD:22521 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:97978 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452821,7 +451951,6 @@ def: "OBSOLETE. Rare immune system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98004"} synonym: "rare immune system disease" EXACT [MONDO:patterns/rare] -xref: GARD:22523 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98004 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452835,7 +451964,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98006"} synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare, Orphanet:98006] synonym: "rare nervous system disorder" EXACT [MONDO:patterns/rare] -xref: GARD:22524 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98006 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452868,7 +451996,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98022"} synonym: "rare headache" EXACT [Orphanet:98022] synonym: "rare headache disorder" EXACT [MONDO:patterns/rare] -xref: GARD:19387 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98022 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452887,7 +452014,6 @@ id: MONDO:0020013 name: obsolete rare odontologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98026"} -xref: GARD:22526 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98026 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452899,7 +452025,6 @@ id: MONDO:0020014 name: obsolete rare disease with odontological manifestation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98027"} -xref: GARD:19388 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98027 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452913,7 +452038,6 @@ def: "OBSOLETE. A rare form of cardiovascular disease." [https://orcid.org/0000- subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98028"} synonym: "rare cardiovascular disease" EXACT [MONDO:patterns/rare] -xref: GARD:22527 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452924,7 +452048,6 @@ id: MONDO:0020016 name: obsolete rare neurologic disease with psychiatric involvement subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98033"} -xref: GARD:19389 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98033 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452939,7 +452062,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98036"} synonym: "rare head and neck disease" RELATED [] synonym: "rare otorhinolaryngologic disease" EXACT [MONDO:patterns/rare] -xref: GARD:22528 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98036 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452950,7 +452072,6 @@ id: MONDO:0020018 name: obsolete cranial malformation subset: ordo_group_of_disorders {source="Orphanet:98038"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19390 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -452962,7 +452083,6 @@ id: MONDO:0020019 name: obsolete digestive tract malformation subset: ordo_group_of_disorders {source="Orphanet:98039"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19391 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q38-Q45 {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: Orphanet:98039 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -452974,7 +452094,6 @@ is_obsolete: true id: MONDO:0020020 name: obsolete visceral malformation of the liver, biliary tract, pancreas or spleen subset: ordo_group_of_disorders {source="Orphanet:98041"} -xref: GARD:19392 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -452985,7 +452104,6 @@ is_obsolete: true id: MONDO:0020021 name: obsolete diaphragmatic or abdominal wall malformation subset: ordo_group_of_disorders {source="Orphanet:98043"} -xref: GARD:19393 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98043 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5451" xsd:anyURI is_obsolete: true @@ -453014,7 +452132,6 @@ is_a: MONDO:0019755 {source="Orphanet:98044"} ! developmental defect during embr id: MONDO:0020023 name: obsolete respiratory or mediastinal malformation subset: ordo_group_of_disorders {source="Orphanet:98045"} -xref: GARD:19395 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98045 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -453029,7 +452146,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98047"} synonym: "rare infertility" EXACT [MONDO:patterns/rare] synonym: "rare infertility disorder" EXACT [MONDO:patterns/rare] -xref: GARD:22529 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453042,7 +452158,6 @@ def: "OBSOLETE. Rare male infertility." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98048"} synonym: "rare male infertility" EXACT [MONDO:patterns/rare] -xref: GARD:19396 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98048 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453055,7 +452170,6 @@ def: "OBSOLETE. Rare female infertility." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98049"} synonym: "rare female infertility" EXACT [MONDO:patterns/rare] -xref: GARD:19397 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98049 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453070,7 +452184,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98050"} synonym: "rare allergic disease" EXACT [MONDO:patterns/rare] synonym: "rare allergic hypersensitivity disease" EXACT [] synonym: "rare allergy" EXACT [Orphanet:98050] -xref: GARD:22530 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453084,7 +452197,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98052"} synonym: "rare allergic respiratory disease" EXACT [MONDO:patterns/rare] synonym: "rare respiratory allergy" EXACT [Orphanet:98052] -xref: GARD:19398 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98052 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453097,7 +452209,6 @@ def: "OBSOLETE. Rare genetic heart disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98054"} synonym: "rare genetic heart disease" EXACT [] -xref: GARD:19399 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98054 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453108,7 +452219,6 @@ id: MONDO:0020030 name: obsolete rare genetic renal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98056"} -xref: GARD:19400 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98056 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453123,7 +452233,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98057"} synonym: "rare disease of cellular proliferation" EXACT [] synonym: "rare neoplasm" EXACT [Orphanet:98057] synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19401 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98057 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453138,7 +452247,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98058"} synonym: "rare urinary system neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare urinary tract cancer" EXACT [Orphanet:98058] synonym: "rare urinary tract neoplasm" EXACT [Orphanet:98058] -xref: GARD:19402 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98058 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453153,7 +452261,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98059"} synonym: "rare digestive cancer" EXACT [Orphanet:98059] synonym: "rare digestive neoplasm" EXACT [Orphanet:98059] synonym: "rare digestive system neoplasm" EXACT [MONDO:patterns/rare] -xref: GARD:19403 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98059 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453169,7 +452276,6 @@ synonym: "rare respiratory cancer" NARROW [Orphanet:98060] synonym: "rare respiratory neoplasm" EXACT [Orphanet:98060] synonym: "rare respiratory tract neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare respiratory tumor" EXACT [Orphanet:98060] -xref: GARD:19404 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98060 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453183,7 +452289,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98061"} synonym: "rare ORL cancer" EXACT [Orphanet:98061] synonym: "rare ORL neoplasm" EXACT [Orphanet:98061] synonym: "rare ORL tumor" EXACT [Orphanet:98061] -xref: GARD:19405 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -453199,7 +452304,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98062"} synonym: "nervous system rare tumor" EXACT [MONDO:patterns/location] synonym: "rare nervous system cancer" EXACT [] synonym: "rare nervous system neoplasm" EXACT [Orphanet:98062] -xref: GARD:19406 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98062 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453214,7 +452318,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98063"} synonym: "rare female reproductive system neoplasm" EXACT [MONDO:patterns/rare] synonym: "rare gynecological cancer" EXACT [Orphanet:98063] synonym: "rare gynecological neoplasm" EXACT [Orphanet:98063] -xref: GARD:19407 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98063 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -453225,7 +452328,6 @@ id: MONDO:0020038 name: obsolete gonadal dysgenesis of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:98074"} -xref: GARD:19408 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98074 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -453236,7 +452338,6 @@ id: MONDO:0020039 name: obsolete 46,XX disorder of sex development induced by androgens excess subset: ordo_group_of_disorders {source="Orphanet:98078"} synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078] -xref: GARD:19409 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98078 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -453277,7 +452378,6 @@ id: MONDO:0020041 name: obsolete 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:98086"} -xref: GARD:19410 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98086 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -453290,7 +452390,6 @@ name: obsolete syndrome with 46,XY disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:98087"} synonym: "syndrome with 46,XY DSD" EXACT [Orphanet:98087] -xref: GARD:19411 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2200393 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:98087 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453331,7 +452430,6 @@ id: MONDO:0020045 name: obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: autosomal recessive cerebellar ataxia' subset: ordo_group_of_disorders {source="Orphanet:98097"} -xref: GARD:19414 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.3 {source="Orphanet:98097/e", source="Orphanet:98097/specific", source="Orphanet:98097"} xref: Orphanet:98097 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453415,7 +452513,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98130"} synonym: "autosomal duplication" EXACT [Orphanet:98130] synonym: "chromosomal triplication" RELATED [GARD:0006065] synonym: "trisomy" BROAD [NCIT:C3421] -xref: GARD:19418 {source="MONDO:obsoleteEquivalent"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3421 xref: Orphanet:98130 {source="MONDO:obsoleteEquivalent"} @@ -453431,7 +452528,6 @@ name: obsolete total autosomal trisomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: trisomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98131"} -xref: GARD:19419 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98131 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453444,7 +452540,6 @@ name: obsolete partial autosomal trisomy/tetrasomy comment: Reason: grouping class specific to autosomal disorder. Term to consider: syndrome caused by partial chromosomal duplication subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98132"} -xref: GARD:19420 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98132 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453456,7 +452551,6 @@ id: MONDO:0020053 name: obsolete total autosomal monosomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98141"} -xref: GARD:19421 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.0 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} xref: ICD10CM:Q93.1 {source="Orphanet:98141/specific", source="Orphanet:98141", source="Orphanet:98141/btnt"} xref: icd11.foundation:599695253 {source="MONDO:obsoleteEquivalent", source="Orphanet:98141", source="https://orcid.org/0000-0001-5208-3432"} @@ -453473,7 +452567,6 @@ comment: Reason: grouping class. Term to consider: MONDO:0000761 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98142"} synonym: "partial autosomal deletion" EXACT [Orphanet:98142] -xref: GARD:19422 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.4 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.5 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} @@ -453490,7 +452583,6 @@ name: obsolete autosomal uniparental disomy comment: Reason: grouping class. Term to consider: MONDO:0700086 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98152"} -xref: GARD:19423 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:98152", source="Orphanet:98152/attributed", source="Orphanet:98152/ntbt"} xref: Orphanet:98152 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453504,7 +452596,6 @@ name: obsolete uniparental disomy of maternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98153"} -xref: GARD:19424 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:98153/attributed", source="Orphanet:98153/ntbt", source="Orphanet:98153"} xref: icd11.foundation:824346206 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98153"} xref: Orphanet:98153 {source="MONDO:obsoleteEquivalent"} @@ -453519,7 +452610,6 @@ name: obsolete uniparental disomy of paternal origin comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98154"} -xref: GARD:19425 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:98154/attributed", source="Orphanet:98154/ntbt", source="Orphanet:98154"} xref: icd11.foundation:2028476598 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98154"} xref: Orphanet:98154 {source="MONDO:obsoleteEquivalent"} @@ -453548,7 +452638,6 @@ comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98156"} synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156] -xref: GARD:19427 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98156 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453562,7 +452651,6 @@ comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98157"} synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157] -xref: GARD:19428 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453574,7 +452662,6 @@ name: obsolete chromosome Y structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98158"} -xref: GARD:19429 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q98.6 {source="Orphanet:98158", source="Orphanet:98158/attributed", source="Orphanet:98158/ntbt"} xref: icd11.foundation:1096926039 {source="Orphanet:98158", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:98158 {source="MONDO:obsoleteEquivalent"} @@ -453588,7 +452675,6 @@ name: obsolete chromosome X structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98159"} -xref: GARD:19430 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q99.8 {source="Orphanet:98159/attributed", source="Orphanet:98159/ntbt", source="Orphanet:98159"} xref: Orphanet:98159 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453601,7 +452687,6 @@ name: obsolete malformation syndrome with hamartosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' subset: ordo_group_of_disorders {source="Orphanet:98196"} synonym: "Dysmorphologic diseases with phakomatosis" EXACT [Orphanet:98196] -xref: GARD:19431 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98196 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -453752,7 +452837,6 @@ def: "OBSOLETE. Chronic form of encephalitis." [MONDO:patterns/chronic] subset: ordo_group_of_disorders {source="Orphanet:98255"} subset: otar {source="MONDO:OTAR"} synonym: "encephalitis, chronic" EXACT [MONDO:patterns/chronic] -xref: GARD:19434 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98255 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -453896,7 +452980,6 @@ synonym: "genetic isolated obesity" EXACT [] synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267] synonym: "monogenic isolated obesity" EXACT [] synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267] -xref: GARD:19439 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98267 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingClass"} @@ -453980,7 +453063,6 @@ synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [NCIT:C7175] synonym: "AML with recurrent Genetic abnormalities" EXACT [NCIT:C7175] synonym: "AML with recurrent genetic anomaly" EXACT [Orphanet:98277] -xref: GARD:12758 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1430965006 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98277"} xref: NCIT:C7175 {source="MONDO:obsoleteEquivalent"} xref: ONCOTREE:AMLRGA {source="MONDO:obsoleteEquivalent"} @@ -454008,7 +453090,6 @@ id: MONDO:0020081 name: obsolete macrophage or histiocytic tumor subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98288"} -xref: GARD:19442 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98288 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -454062,7 +453143,6 @@ is_a: MONDO:0015757 {source="Orphanet:98290"} ! lymphoid hemopathy id: MONDO:0020084 name: obsolete lymphoproliferative disease associated with primary immune disease subset: ordo_group_of_disorders {source="Orphanet:98291"} -xref: GARD:16855 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D47.9 {source="Orphanet:98291", source="Orphanet:98291/ntbt"} xref: Orphanet:98291 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -454166,7 +453246,6 @@ name: obsolete male infertility due to gonadal dysgenesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:98313"} synonym: "Male infertility due to testicular dysgenesis" EXACT [Orphanet:98313] -xref: GARD:19445 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -454179,7 +453258,6 @@ name: obsolete male infertility due to obstructive azoospermia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:98343"} synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343] -xref: GARD:19446 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N46 {source="Orphanet:98343/ntbt", source="Orphanet:98343"} xref: Orphanet:98343 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454205,7 +453283,6 @@ def: "OBSOLETE. Autosomal dominant form of isolated diffuse palmoplantar keratod subset: ordo_group_of_disorders {source="Orphanet:98349"} synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349] synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:19447 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98349/attributed", source="Orphanet:98349/ntbt", source="Orphanet:98349"} xref: Orphanet:98349 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -454223,7 +453300,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98352"} synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352] synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:19448 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98352/attributed", source="Orphanet:98352/ntbt", source="Orphanet:98352"} xref: Orphanet:98352 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454240,7 +453316,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98353"} synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353] synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -xref: GARD:19449 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98353/attributed", source="Orphanet:98353/ntbt", source="Orphanet:98353"} xref: Orphanet:98353 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454255,7 +453330,6 @@ def: "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar kerato subset: ordo_group_of_disorders {source="Orphanet:98356"} synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356] synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:19450 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="Orphanet:98356/attributed", source="Orphanet:98356/ntbt"} xref: Orphanet:98356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -454273,7 +453347,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98357"} synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -xref: GARD:19451 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q82.8 {source="Orphanet:98357/attributed", source="Orphanet:98357/ntbt", source="Orphanet:98357"} xref: Orphanet:98357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454286,7 +453359,6 @@ id: MONDO:0020098 name: obsolete constitutional anemia due to iron metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited deficiency anemia' subset: ordo_group_of_disorders {source="Orphanet:98360"} -xref: GARD:19452 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D50.8 {source="Orphanet:98360/attributed", source="Orphanet:98360/ntbt", source="Orphanet:98360"} xref: Orphanet:98360 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454326,7 +453398,6 @@ def: "OBSOLETE. Rare hemolytic anemia." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98363"} synonym: "rare hemolytic anemia" EXACT [MONDO:patterns/rare] -xref: GARD:19454 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98363 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -454342,7 +453413,6 @@ synonym: "anemia due to membrane defect" EXACT [NCIT:C101218] synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [NCIT:C101218] synonym: "hemolytic anemia due to membrane defect" EXACT [NCIT:C101218] synonym: "rare constitutional hemolytic anemia due to a red cell membrane anomaly" EXACT [] -xref: GARD:19455 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C101218 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98364 {source="MONDO:obsoleteEquivalent"} xref: SCTID:111575000 {source="MONDO:obsoleteEquivalent"} @@ -454378,7 +453448,6 @@ name: obsolete constitutional hemolytic anemia due to acanthocytosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98366"} synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366] -xref: GARD:19457 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.6 {source="Orphanet:98366", source="Orphanet:98366/index", source="Orphanet:98366/ntbt"} xref: Orphanet:98366 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454391,7 +453460,6 @@ id: MONDO:0020104 name: obsolete rare constitutional hemolytic anemia due to an enzyme disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98369"} -xref: GARD:19458 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D55.0 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} xref: ICD10CM:D55.1 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} xref: ICD10CM:D55.2 {source="Orphanet:98369", source="Orphanet:98369/btnt", source="Orphanet:98369/specific"} @@ -454409,7 +453477,6 @@ id: MONDO:0020105 name: obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98370"} -xref: GARD:19459 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D55.1 {source="Orphanet:98370/specific", source="Orphanet:98370", source="Orphanet:98370/e"} xref: icd11.foundation:2071787420 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98370"} xref: Orphanet:98370 {source="MONDO:obsoleteEquivalent"} @@ -454423,7 +453490,6 @@ id: MONDO:0020106 name: obsolete hemolytic anemia due to a disorder of glycolytic enzymes comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98372"} -xref: GARD:19460 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D55.2 {source="Orphanet:98372/e", source="Orphanet:98372/specific", source="Orphanet:98372"} xref: Orphanet:98372 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454437,7 +453503,6 @@ name: obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism diso comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98374"} synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374] -xref: GARD:19461 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D55.3 {source="Orphanet:98374/e", source="Orphanet:98374/specific", source="Orphanet:98374"} xref: Orphanet:98374 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454507,7 +453572,6 @@ id: MONDO:0020109 name: obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia' subset: ordo_group_of_disorders {source="Orphanet:98396"} -xref: GARD:19462 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D51.0 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} xref: ICD10CM:D51.1 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} xref: ICD10CM:D51.2 {source="Orphanet:98396/specific", source="Orphanet:98396/btnt", source="Orphanet:98396"} @@ -454555,7 +453619,6 @@ id: MONDO:0020111 name: obsolete constitutional megaloblastic anemia due to folate metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001889 Megaloblastic anemia' subset: ordo_group_of_disorders {source="Orphanet:98408"} -xref: GARD:19463 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D52.8 {source="Orphanet:98408", source="Orphanet:98408/attributed", source="Orphanet:98408/ntbt"} xref: Orphanet:98408 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -454637,7 +453700,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98429"} synonym: "rare blood coagulation disease" EXACT [MONDO:patterns/rare] synonym: "rare coagulation disorder" RELATED [Orphanet:98429] -xref: GARD:19468 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -454668,7 +453730,6 @@ id: MONDO:0020118 name: obsolete dense granule disease subset: ordo_group_of_disorders {source="Orphanet:98456"} synonym: "Delta granule disease" EXACT [Orphanet:98456] -xref: GARD:19470 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D69.1 {source="Orphanet:98456/attributed", source="Orphanet:98456/ntbt", source="Orphanet:98456"} xref: icd11.foundation:1930060978 {source="Orphanet:98456", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:98456 {source="MONDO:obsoleteEquivalent"} @@ -454839,7 +453900,6 @@ name: obsolete acquired neuromuscular junction disease def: "OBSOLETE. An instance of neuromuscular junction disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_group_of_disorders {source="Orphanet:98494"} synonym: "acquired neuromuscular junction disease" EXACT [MONDO:patterns/acquired] -xref: GARD:19474 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -454853,7 +453913,6 @@ def: "OBSOLETE. Rare peripheral neuropathy." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98496"} synonym: "rare peripheral neuropathy" EXACT [MONDO:patterns/rare] -xref: GARD:19476 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98496 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -454941,7 +454000,6 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired id: MONDO:0020130 name: obsolete malformation of the cerebellar vermis subset: ordo_group_of_disorders {source="Orphanet:98514"} -xref: GARD:19480 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98514 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -454953,7 +454011,6 @@ is_obsolete: true id: MONDO:0020131 name: obsolete malformation of the cerebellar hemispheres subset: ordo_group_of_disorders {source="Orphanet:98516"} -xref: GARD:19481 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.3 {source="Orphanet:98516", source="Orphanet:98516/ntbt"} xref: Orphanet:98516 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -454966,7 +454023,6 @@ is_obsolete: true id: MONDO:0020132 name: obsolete cranial nerve and nuclear aplasia subset: ordo_group_of_disorders {source="Orphanet:98518"} -xref: GARD:19482 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98518 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98518", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -454980,7 +454036,6 @@ id: MONDO:0020133 name: obsolete posterior fossa malformation subset: ordo_group_of_disorders {source="Orphanet:98519"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19483 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98519 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:98519", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -455045,7 +454100,6 @@ id: MONDO:0020136 name: obsolete neurodegenerative disease with dementia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98534"} -xref: GARD:19484 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98534 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1498" xsd:anyURI is_obsolete: true @@ -455056,7 +454110,6 @@ id: MONDO:0020137 name: obsolete frontotemporal degeneration with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: neurodegenerative disease' subset: ordo_group_of_disorders {source="Orphanet:98535"} -xref: GARD:19485 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G31.0 {source="Orphanet:98535/ntbt", source="Orphanet:98535"} xref: Orphanet:98535 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -455069,7 +454122,6 @@ id: MONDO:0020138 name: obsolete ataxia with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: HP:0001251 Ataxia subset: ordo_group_of_disorders {source="Orphanet:98538"} -xref: GARD:19486 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -455081,7 +454133,6 @@ id: MONDO:0020139 name: obsolete early-onset ataxia with dementia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98539"} -xref: GARD:19487 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98539 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -455090,7 +454141,6 @@ id: MONDO:0020140 name: obsolete late-onset ataxia with dementia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98540"} -xref: GARD:19488 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98540 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -455100,7 +454150,6 @@ name: obsolete infectious disease with dementia comment: Dementia should be a feature, not a superclass. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98542"} -xref: GARD:19489 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98542 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI is_obsolete: true @@ -455111,7 +454160,6 @@ id: MONDO:0020142 name: obsolete metabolic disease with dementia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:98543"} -xref: GARD:19490 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98543 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -455146,7 +454194,6 @@ name: obsolete cerebrovascular dementia subset: ordo_group_of_disorders {source="Orphanet:98549"} subset: otar {source="MONDO:OTAR"} synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549] -xref: GARD:19492 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98549 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455158,7 +454205,6 @@ id: MONDO:0020145 name: obsolete developmental defect of the eye subset: ordo_group_of_disorders {source="Orphanet:98553"} subset: otar {source="MONDO:OTAR"} -xref: GARD:16857 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10-Q18 {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: Orphanet:98553 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -455182,7 +454228,6 @@ id: MONDO:0020147 name: obsolete anophthalmia-microphthalmia syndrome subset: ordo_group_of_disorders {source="Orphanet:98555"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19493 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q11.0 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} xref: ICD10CM:Q11.1 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} xref: ICD10CM:Q11.2 {source="Orphanet:98555/btnt", source="Orphanet:98555", source="Orphanet:98555/specific"} @@ -455201,7 +454246,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98557"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with aniridia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic aniridia" EXACT [MONDO:patterns/syndromic] -xref: GARD:19494 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455237,7 +454281,6 @@ name: obsolete rare palpebral disease def: "OBSOLETE. Any of the forms of eyelid disease that have a rare incidence." [MONDO:patterns/rare] subset: ordo_group_of_disorders {source="Orphanet:98560"} synonym: "rare eyelid disease" EXACT [MONDO:patterns/rare] -xref: GARD:19495 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98560 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -455249,7 +454292,6 @@ name: obsolete rare eyelid malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98561"} synonym: "eyelid malformation" RELATED [Orphanet:98561] -xref: GARD:19496 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98561 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -455281,7 +454323,6 @@ is_a: MONDO:0003382 {source="MONDO:0020152-obsoleted"} ! eyelid disorder id: MONDO:0020154 name: obsolete microblepharon-ablephara syndrome subset: ordo_group_of_disorders {source="Orphanet:98563"} -xref: GARD:19497 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10.3 {source="Orphanet:98563/attributed", source="Orphanet:98563/ntbt", source="Orphanet:98563"} xref: Orphanet:98563 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -455293,7 +454334,6 @@ is_obsolete: true id: MONDO:0020155 name: obsolete eyelid border anomaly subset: ordo_group_of_disorders {source="Orphanet:98564"} -xref: GARD:19498 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455304,7 +454344,6 @@ is_obsolete: true id: MONDO:0020156 name: obsolete syndromic ankyloblepharon subset: ordo_group_of_disorders {source="Orphanet:98565"} -xref: GARD:19499 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98565 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455315,7 +454354,6 @@ is_obsolete: true id: MONDO:0020157 name: obsolete syndromic palpebral coloboma subset: ordo_group_of_disorders {source="Orphanet:98566"} -xref: GARD:19500 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98566 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455327,7 +454365,6 @@ is_obsolete: true id: MONDO:0020158 name: obsolete eyelids malposition disorder subset: ordo_group_of_disorders {source="Orphanet:98567"} -xref: GARD:19501 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98567 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455381,7 +454418,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020162 name: obsolete secondary ectropion subset: ordo_group_of_disorders {source="Orphanet:98571"} -xref: GARD:19503 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H02.1 {source="Orphanet:98571/attributed", source="Orphanet:98571/ntbt", source="Orphanet:98571"} xref: Orphanet:98571 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -455413,7 +454449,6 @@ is_obsolete: true id: MONDO:0020165 name: obsolete syndromic epicanthus subset: ordo_group_of_disorders {source="Orphanet:98574"} -xref: GARD:19504 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98574 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455431,7 +454466,6 @@ replaced_by: MONDO:0008537 id: MONDO:0020167 name: obsolete malposition of external canthus subset: ordo_group_of_disorders {source="Orphanet:98576"} -xref: GARD:19506 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q10.3 {source="Orphanet:98576", source="Orphanet:98576/attributed", source="Orphanet:98576/ntbt"} xref: Orphanet:98576 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -455452,7 +454486,6 @@ id: MONDO:0020169 name: obsolete rare disorder with ptosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98578"} -xref: GARD:19507 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98578 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -455662,7 +454695,6 @@ name: obsolete rare eyebrow/eyelashes anomaly comment: Editor note: does not align with anatomy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98594"} -xref: GARD:19508 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98594 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -455743,7 +454775,6 @@ def: "OBSOLETE. Any of the forms of lacrimal apparatus disease that have a rare subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98602"} synonym: "rare lacrimal apparatus disease" EXACT [MONDO:patterns/rare] -xref: GARD:19509 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98602 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -455765,7 +454796,6 @@ is_obsolete: true id: MONDO:0020194 name: obsolete congenital alacrima subset: ordo_group_of_disorders {source="Orphanet:98604"} -xref: GARD:19510 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98604 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -455777,7 +454807,6 @@ is_obsolete: true id: MONDO:0020195 name: obsolete excretory apparatus of the lacrimal system anomaly subset: ordo_group_of_disorders {source="Orphanet:98605"} -xref: GARD:19511 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98605 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455798,7 +454827,6 @@ id: MONDO:0020197 name: obsolete EEC syndrome and related syndrome subset: ordo_group_of_disorders {source="Orphanet:98609"} synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [Orphanet:98609] -xref: GARD:19512 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98609 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455814,7 +454842,6 @@ name: obsolete rare conjunctival disease def: "OBSOLETE. Rare conjunctival disease." [] subset: ordo_group_of_disorders {source="Orphanet:98610"} synonym: "rare conjunctival disease" EXACT [MONDO:patterns/rare] -xref: GARD:19513 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98610 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -455911,7 +454938,6 @@ id: MONDO:0020206 name: obsolete rare refraction anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98618"} -xref: GARD:19514 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98618 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -455923,7 +454949,6 @@ id: MONDO:0020207 name: obsolete rare isolated myopia def: "OBSOLETE. Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness." [Orphanet:98619] subset: ordo_disorder {source="Orphanet:98619"} -xref: GARD:16859 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98619 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -455946,7 +454971,6 @@ id: MONDO:0020209 name: obsolete rare hyperopia and astigmatism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98621"} -xref: GARD:19515 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98621 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -455960,7 +454984,6 @@ def: "OBSOLETE. A hyperopia that is part of a larger syndrome." [MONDO:patterns/ subset: ordo_group_of_disorders {source="Orphanet:98622"} synonym: "syndrome associated with hyperopia" EXACT [MONDO:patterns/syndromic] synonym: "syndromic hyperopia" EXACT [MONDO:patterns/syndromic] -xref: GARD:19516 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455975,7 +454998,6 @@ def: "OBSOLETE. A keratoconus (disease) that is part of a larger syndrome." [MON subset: ordo_group_of_disorders {source="Orphanet:98623"} synonym: "syndrome associated with keratoconus (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic keratoconus (disease)" EXACT [MONDO:patterns/syndromic] -xref: GARD:19517 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98623 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456059,7 +455081,6 @@ def: "OBSOLETE. A corneal dystrophy (disease) that is part of a larger syndrome. subset: ordo_group_of_disorders {source="Orphanet:98628"} synonym: "syndrome associated with corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic corneal dystrophy (disease)" EXACT [MONDO:patterns/syndromic] -xref: GARD:19521 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98628 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456074,7 +455095,6 @@ def: "OBSOLETE. A hereditary disease that is associated with congenital ocular a subset: ordo_group_of_disorders {source="Orphanet:98631"} subset: otar {source="MONDO:OTAR"} synonym: "secondary congenital glaucoma" RELATED [http://dx.doi.org/10.1155/2015/781294] -xref: GARD:19522 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98631 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456107,7 +455127,6 @@ is_obsolete: true id: MONDO:0020219 name: obsolete corneogoniodysgenesis subset: ordo_group_of_disorders {source="Orphanet:98635"} -xref: GARD:19523 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98635 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456135,7 +455154,6 @@ id: MONDO:0020222 name: obsolete rare disease with glaucoma as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98638"} -xref: GARD:19524 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98638 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -456149,7 +455167,6 @@ name: obsolete lens and zonula anomaly subset: disease_grouping subset: implicit_genetic_in_ordo subset: ordo_group_of_disorders {source="Orphanet:98639"} -xref: GARD:19525 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98639 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -456163,7 +455180,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98640"} synonym: "rare cataract" EXACT [] synonym: "rare cataract (disease)" EXACT [MONDO:patterns/rare] -xref: GARD:19526 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98640 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -456176,7 +455192,6 @@ def: "OBSOLETE. A cataract (disease) that is part of a larger syndrome." [MONDO: subset: ordo_group_of_disorders {source="Orphanet:98641"} synonym: "syndrome associated with cataract (disease)" EXACT [MONDO:patterns/syndromic] synonym: "syndromic cataract (disease)" EXACT [MONDO:patterns/syndromic] -xref: GARD:19527 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98641 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456188,7 +455203,6 @@ id: MONDO:0020226 name: obsolete chromosomal anomaly with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: chromosomal disorder' subset: ordo_group_of_disorders {source="Orphanet:98642"} -xref: GARD:19528 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98642 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456212,7 +455226,6 @@ name: obsolete cataract associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic cataract' subset: ordo_group_of_disorders {source="Orphanet:98644"} synonym: "metabolic disease with cataract" EXACT [Orphanet:98644] -xref: GARD:19529 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98644 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456234,7 +455247,6 @@ id: MONDO:0020230 name: obsolete renal disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: kidney disease' subset: ordo_group_of_disorders {source="Orphanet:98646"} -xref: GARD:19530 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98646 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456256,7 +455268,6 @@ id: MONDO:0020232 name: obsolete musculoskeletal disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: musculoskeletal system disease' subset: ordo_group_of_disorders {source="Orphanet:98648"} -xref: GARD:19531 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98648 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456268,7 +455279,6 @@ id: MONDO:0020233 name: obsolete dentocutaneous disease with cataract comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: integumentary system disease' subset: ordo_group_of_disorders {source="Orphanet:98649"} -xref: GARD:19532 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98649 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456280,7 +455290,6 @@ id: MONDO:0020234 name: obsolete craniofacial anomaly with cataract subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98650"} -xref: GARD:19533 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98650 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -456288,7 +455297,6 @@ is_obsolete: true id: MONDO:0020235 name: obsolete lens size anomaly subset: ordo_group_of_disorders {source="Orphanet:98652"} -xref: GARD:19534 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98652 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456301,7 +455309,6 @@ name: obsolete lens position anomaly def: "OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484] subset: ordo_group_of_disorders {source="Orphanet:98653"} synonym: "ectopia lentis" EXACT [NCIT:C125484] -xref: GARD:19535 {source="MONDO:obsoleteEquivalent"} xref: HP:0001083 xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="Orphanet:98653/attributed", source="Orphanet:98653/ntbt"} xref: NCIT:C125484 {source="MONDO:obsoleteEquivalent"} @@ -456315,7 +455322,6 @@ consider: HP:0001083 id: MONDO:0020237 name: obsolete lens shape anomaly subset: ordo_group_of_disorders {source="Orphanet:98655"} -xref: GARD:19536 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98655 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456349,7 +455355,6 @@ subset: ordo_group_of_disorders {source="Orphanet:98661"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] synonym: "syndromic retinitis pigmentosa" EXACT [MONDO:patterns/syndromic] -xref: GARD:19538 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98661 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456524,7 +455529,6 @@ id: MONDO:0020251 name: obsolete rare strabismus and restriction syndrome subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98681"} -xref: GARD:19541 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98681 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -456547,7 +455551,6 @@ id: MONDO:0020253 name: obsolete syndrome with a symptomatic strabismus comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:98683"} -xref: GARD:19542 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98683 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -456559,7 +455562,6 @@ id: MONDO:0020254 name: obsolete craniostenosis associated with a strabismus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98684"} -xref: GARD:19543 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98684 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -456576,7 +455578,6 @@ subset: ordo_disorder {source="Orphanet:98686"} synonym: "congenital CNIV palsy" EXACT [Orphanet:98686] synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686] synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686] -xref: GARD:19545 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H49.1 {source="Orphanet:98686", source="Orphanet:98686/attributed", source="Orphanet:98686/ntbt"} xref: Orphanet:98686 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686", source="https://orcid.org/0000-0001-5208-3432"} ! nuclear oculomotor paralysis @@ -456610,7 +455611,6 @@ is_a: MONDO:0001309 {source="Orphanet:98687"} ! oculomotor nerve paralysis id: MONDO:0020258 name: obsolete oculomotor apraxia or related oculomotor disease subset: ordo_group_of_disorders {source="Orphanet:98688"} -xref: GARD:19547 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:855225863 {source="Orphanet:98688", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:98688 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000423 @@ -456763,7 +455763,6 @@ id: MONDO:0020275 name: obsolete oculocutaneous or ocular albinism def: "OBSOLETE. Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Albinism] subset: ordo_group_of_disorders {source="Orphanet:98706"} -xref: GARD:19548 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E70.3 {source="Orphanet:98706/e", source="Orphanet:98706/specific", source="Orphanet:98706"} xref: Orphanet:98706 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -456881,7 +455880,6 @@ property_value: IAO:0000589 "uveitis (disease)" xsd:string id: MONDO:0020284 name: obsolete heart position anomaly subset: ordo_group_of_disorders {source="Orphanet:98716"} -xref: GARD:19550 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98716 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456893,7 +455891,6 @@ is_obsolete: true id: MONDO:0020285 name: obsolete transposition of the great arteries and conotruncal cardiac anomaly subset: ordo_group_of_disorders {source="Orphanet:98717"} -xref: GARD:19551 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98717 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456907,7 +455904,6 @@ name: obsolete aortic malformation subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98718"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19552 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98718 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456919,7 +455915,6 @@ is_obsolete: true id: MONDO:0020287 name: obsolete pulmonary artery or pulmonary branch anomaly subset: ordo_group_of_disorders {source="Orphanet:98719"} -xref: GARD:19553 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98719 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -456933,7 +455928,6 @@ name: obsolete atrioventricular valve anomaly subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98720"} subset: otar {source="MONDO:OTAR"} -xref: GARD:19554 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98720 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -457053,7 +456047,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020293 name: obsolete ascending aorta anomaly subset: ordo_group_of_disorders {source="Orphanet:98725"} -xref: GARD:19557 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q25.4 {source="Orphanet:98725", source="Orphanet:98725/ntbt"} xref: Orphanet:98725 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457068,7 +456061,6 @@ name: obsolete atrial defect and interatrial communication subset: ordo_group_of_disorders {source="Orphanet:98727"} synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727] synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727] -xref: GARD:19558 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q21.1 {source="Orphanet:98727", source="Orphanet:98727/ntbt"} xref: Orphanet:98727 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457420,7 +456412,6 @@ id: MONDO:0020313 name: obsolete unclassified myelodysplastic/myeloproliferative disease subset: ordo_disorder {source="Orphanet:98825"} synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [Orphanet:98825] -xref: GARD:19584 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:855969668 {source="MONDO:obsoleteEquivalent", source="Orphanet:98825", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:98825 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -457439,7 +456430,6 @@ id: MONDO:0020315 name: obsolete unclassified myelodysplastic syndrome def: "OBSOLETE. Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance." [Orphanet:98827] subset: ordo_disorder {source="Orphanet:98827"} -xref: GARD:19586 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1684468291 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98827"} xref: Orphanet:98827 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -457782,7 +456772,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6944/lymphom id: MONDO:0020327 name: obsolete classic Hodgkin lymphoma, nodular sclerosis type subset: nord_rare {source="MONDO:NORD"} -xref: GARD:19591 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7278" xsd:anyURI is_obsolete: true @@ -458042,7 +457031,6 @@ synonym: "Complex X-linked SPG" EXACT [Orphanet:98888] synonym: "complicated X-linked HSP" EXACT [Orphanet:98888] synonym: "complicated X-linked SPG" EXACT [Orphanet:98888] synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888] -xref: GARD:19599 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G11.4 {source="Orphanet:98888/attributed", source="Orphanet:98888/ntbt", source="Orphanet:98888"} xref: Orphanet:98888 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -458101,7 +457089,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:300049"} ! inheri [Term] id: MONDO:0020342 name: obsolete congenital myopathy with excess of thin filaments -xref: GARD:16869 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6036" xsd:anyURI is_obsolete: true @@ -458113,7 +457100,6 @@ name: obsolete alpha-crystallinopathy subset: ordo_group_of_disorders {source="Orphanet:98910"} subset: otar {source="MONDO:OTAR"} synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910] -xref: GARD:19600 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G71.8 {source="Orphanet:98910/attributed", source="Orphanet:98910/ntbt", source="Orphanet:98910"} xref: Orphanet:98910 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -458151,7 +457137,6 @@ name: obsolete presynaptic congenital myasthenic syndrome subset: ordo_subtype_of_a_disorder {source="Orphanet:98914"} subset: otar {source="MONDO:OTAR"} synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914] -xref: GARD:15023 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G70.2 {source="Orphanet:98914", source="Orphanet:98914/attributed", source="Orphanet:98914/ntbt"} xref: Orphanet:98914 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -458168,7 +457153,6 @@ name: obsolete synaptic congenital myasthenic syndrome subset: ordo_subtype_of_a_disorder {source="Orphanet:98915"} subset: otar {source="MONDO:OTAR"} synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915] -xref: GARD:16872 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:G70.2 {source="Orphanet:98915/attributed", source="Orphanet:98915/ntbt", source="Orphanet:98915"} xref: Orphanet:98915 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -458781,7 +457765,6 @@ id: MONDO:0020375 name: obsolete coralliform cataract subset: ordo_subtype_of_a_disorder {source="Orphanet:98990"} subset: otar {source="MONDO:OTAR"} -xref: GARD:16886 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q12.0 {source="Orphanet:98990/attributed", source="Orphanet:98990/ntbt", source="Orphanet:98990"} xref: Orphanet:98990 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -459102,7 +458085,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4586/pulmona id: MONDO:0020392 name: obsolete discrete fixed membranous subaortic stenosis subset: ordo_subtype_of_a_disorder {source="Orphanet:99051"} -xref: GARD:16892 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.4 {source="Orphanet:99051", source="Orphanet:99051/ntbt"} xref: Orphanet:99051 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -460954,7 +459936,6 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99739"} synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739] synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739] -xref: GARD:19686 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:99739 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -461469,7 +460450,6 @@ id: MONDO:0020506 name: obsolete ovarioleukodystrophy subset: ordo_subtype_of_a_disorder {source="Orphanet:99853"} subset: otar {source="MONDO:OTAR"} -xref: GARD:16918 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E75.2 {source="Orphanet:99853/attributed", source="Orphanet:99853/ntbt", source="Orphanet:99853"} xref: Orphanet:99853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -462143,7 +461123,6 @@ id: MONDO:0020537 name: obsolete occupational allergic alveolitis def: "OBSOLETE. Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise" [Orphanet:99909] subset: ordo_group_of_disorders {source="Orphanet:99909"} -xref: GARD:19704 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:99909 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -462438,7 +461417,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10964/chroni [Term] id: MONDO:0020548 name: obsolete ocular pemphigoid -xref: GARD:8759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7069" xsd:anyURI is_obsolete: true @@ -467994,7 +466972,6 @@ id: MONDO:0020999 name: obsolete genetic chronic primary adrenal insufficiency subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101960"} -xref: GARD:19804 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:101960 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -468547,7 +467524,6 @@ name: obsolete genetic hair anomaly def: "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:183450"} synonym: "genetic hair anomaly" EXACT [MONDO:patterns/genetic] -xref: GARD:20266 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183450 {source="MONDO:0021027", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -468560,7 +467536,6 @@ name: obsolete genetic nail anomaly def: "OBSOLETE. An instance of nail anomaly that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:183454"} synonym: "genetic nail anomaly" EXACT [MONDO:patterns/genetic] -xref: GARD:20267 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183454 {source="MONDO:0021028", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -468619,7 +467594,6 @@ name: obsolete hereditary alopecia def: "OBSOLETE. An instance of alopecia that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: ordo_group_of_disorders {source="Orphanet:481771"} synonym: "genetic alopecia" EXACT [MONDO:patterns/genetic] -xref: GARD:21987 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:481771 {source="MONDO:obsoleteEquivalent", source="MONDO:0021034"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -468663,7 +467637,6 @@ def: "OBSOLETE. An instance of neurodegenerative disease with dementia that is c comment: Dementia should be a feature, not a superclass. subset: ordo_group_of_disorders {source="Orphanet:276058"} synonym: "genetic neurodegenerative disease with dementia" EXACT [MONDO:patterns/genetic] -xref: GARD:21039 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:276058 {source="MONDO:0021037", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1954" xsd:anyURI is_obsolete: true @@ -468785,6 +467758,7 @@ id: MONDO:0021042 name: glioma def: "A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas." [NCIT:C3059] subset: gard_rare {source="GARD:6513", source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:182067"} subset: otar {source="MONDO:OTAR"} subset: rare @@ -471938,7 +470912,6 @@ is_obsolete: true id: MONDO:0021198 name: obsolete rare genetic disease subset: ordo_group_of_disorders {source="Orphanet:98053"} -xref: GARD:22531 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98053 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -479575,7 +478548,6 @@ id: MONDO:0021690 name: obsolete congenital left ventricular aneurysm def: "OBSOLETE. A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of described aneurysms range from 0.5 cm in diameter up to a size of 8x9 cm. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. [Orphanet:1055]" [Orphanet:1055] subset: ordo_disorder {source="Orphanet:1055"} -xref: GARD:2305 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:1055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -481917,7 +480889,6 @@ relationship: disease_has_major_feature HP:0030159 {source="UMLS:C0206708"} ! Ce id: MONDO:0022397 name: obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene subset: ordo_group_of_disorders {source="Orphanet:156168"} -xref: GARD:19988 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156168 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -481943,7 +480914,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9211/aglossi id: MONDO:0022399 name: obsolete retinal ciliopathy due to mutation in the RPGR gene subset: ordo_group_of_disorders {source="Orphanet:156171"} -xref: GARD:19989 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156171 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -481956,7 +480926,6 @@ is_obsolete: true id: MONDO:0022400 name: obsolete retinal ciliopathy due to mutation in the RPGRIP gene subset: ordo_group_of_disorders {source="Orphanet:156174"} -xref: GARD:19990 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156174 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -482007,7 +480976,6 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5763/ahumada id: MONDO:0022404 name: obsolete retinal ciliopathy due to mutation in Usher gene subset: ordo_group_of_disorders {source="Orphanet:156177"} -xref: GARD:19991 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156177 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -482020,7 +480988,6 @@ is_obsolete: true id: MONDO:0022405 name: obsolete retinal ciliopathy due to mutation in nephronophthisis gene subset: ordo_group_of_disorders {source="Orphanet:156180"} -xref: GARD:19992 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156180 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -482039,7 +481006,6 @@ replaced_by: MONDO:0021836 id: MONDO:0022407 name: obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene subset: ordo_group_of_disorders {source="Orphanet:156183"} -xref: GARD:19993 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156183 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -482052,7 +481018,6 @@ is_obsolete: true id: MONDO:0022409 name: obsolete nephropathy-associated ciliopathy subset: ordo_group_of_disorders {source="Orphanet:156162"} -xref: GARD:19986 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156162 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -482351,7 +481316,6 @@ replaced_by: MONDO:0015230 id: MONDO:0022464 name: obsolete anophthalmia microcephaly hypogonadism comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it. -xref: GARD:0000718 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI is_obsolete: true @@ -482438,7 +481402,6 @@ replaced_by: MONDO:0008810 id: MONDO:0022495 name: obsolete arthritis short stature deafness comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it. -xref: GARD:0000775 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI is_obsolete: true @@ -484896,8 +483859,9 @@ id: MONDO:0022900 name: obsolete athyreotic congenital hypothyroidism def: "OBSOLETE. Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)" [Wikipedia:Congenital_hypothyroidism] comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: athyreosis-MONDO:0019855 +subset: gard_rare {source="GARD:1610", source="MONDO:GARD"} synonym: "cretinism athyreotic" RELATED DEPRECATED [GARD:0001610] -xref: GARD:1610 {source="MONDO:obsoleteEquivalent"} +xref: GARD:1610 {source="MONDO:obsoleteEquivalent", source="MONDO:GARD"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} 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/7357" xsd:anyURI @@ -486221,6 +485185,7 @@ subset: rare synonym: "hereditary prostate carcinoma" EXACT [NCIT:C103817] synonym: "prostate cancer, familial" RELATED [GARD:0004520] synonym: "prostate cancer, hereditary" RELATED [GARD:0004520] +xref: GARD:4520 {source="MONDO:GARD"} xref: GTR:AN0101368 xref: GTR:AN0101369 xref: MEDGEN:419810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -486319,7 +485284,6 @@ name: obsolete antihypertensive drugs antenatal exposure syndrome comment: This term was found in the globalgenes.org rare disease list, but no information could be found about it. synonym: "antihypertensive drugs antenatal exposure" RELATED [GARD:0000733] synonym: "fetal antihypertensive drugs syndrome" RELATED [GARD:0000733] -xref: GARD:0000733 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/141" xsd:anyURI is_obsolete: true @@ -488562,7 +487526,6 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0024145 name: obsolete Pierre Robin syndrome associated with collagen disease subset: ordo_group_of_disorders {source="Orphanet:138041"} -xref: GARD:19894 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -488573,7 +487536,6 @@ consider: MONDO:0018187 id: MONDO:0024147 name: obsolete Pierre Robin syndrome associated with a chromosomal anomaly subset: ordo_group_of_disorders {source="Orphanet:138047"} -xref: GARD:19896 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -488584,7 +487546,6 @@ consider: MONDO:0018187 id: MONDO:0024148 name: obsolete Pierre Robin syndrome associated with branchial archs anomalies subset: ordo_group_of_disorders {source="Orphanet:138050"} -xref: GARD:19897 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -488595,7 +487556,6 @@ consider: MONDO:0018187 id: MONDO:0024149 name: obsolete Pierre Robin syndrome associated with bone disease subset: ordo_group_of_disorders {source="Orphanet:138055"} -xref: GARD:19898 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:138055 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -491341,7 +490301,6 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant id: MONDO:0024471 name: obsolete non-inflammatory vasculopathy subset: ordo_group_of_disorders {source="Orphanet:496924"} -xref: GARD:22014 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:496924 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -495602,7 +494561,6 @@ property_value: RO:0002175 NCBITaxon:9935 {source="https://orcid.org/0000-0002-4 id: MONDO:0024987 name: obsolete genetic urogenital tract malformation subset: ordo_group_of_disorders {source="Orphanet:156622"} -xref: GARD:20009 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:156622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingMorpho", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -496964,7 +495922,6 @@ subset: ordo_group_of_disorders {source="Orphanet:271847"} synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847] synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] -xref: GARD:21015 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271847 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -497215,6 +496172,8 @@ is_a: MONDO:0019623 {source="OMIM:619366"} ! hereditary angioedema id: MONDO:0025956 name: ovarian remnant syndrome def: "Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function." [GARD:0007297] +subset: nord_rare {source="MONDO:NORD"} +subset: rare xref: icd11.foundation:584962583 {source="MONDO:equivalentTo"} xref: MEDGEN:78780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0271614 {source="MEDGEN:78780", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497244,7 +496203,6 @@ is_a: MONDO:0005093 ! skin disorder id: MONDO:0026141 name: obsolete genetic urticaria subset: ordo_group_of_disorders {source="Orphanet:182734"} -xref: GARD:20258 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:182734 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497255,7 +496213,6 @@ consider: MONDO:0005492 id: MONDO:0026150 name: obsolete genetic erythrokeratoderma subset: ordo_group_of_disorders {source="Orphanet:183438"} -xref: GARD:20262 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183438 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497266,7 +496223,6 @@ consider: MONDO:0019270 id: MONDO:0026151 name: obsolete genetic acrokeratoderma subset: ordo_group_of_disorders {source="Orphanet:183441"} -xref: GARD:20263 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497276,7 +496232,6 @@ is_obsolete: true id: MONDO:0026152 name: obsolete genetic porokeratosis subset: ordo_group_of_disorders {source="Orphanet:183444"} -xref: GARD:20264 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183444 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497286,7 +496241,6 @@ is_obsolete: true id: MONDO:0026157 name: obsolete genetic pigmentation anomaly of the skin subset: ordo_group_of_disorders {source="Orphanet:183463"} -xref: GARD:20269 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183463 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497296,7 +496250,6 @@ is_obsolete: true id: MONDO:0026160 name: obsolete genetic dermis disorder subset: ordo_group_of_disorders {source="Orphanet:183472"} -xref: GARD:20272 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183472 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497307,7 +496260,6 @@ consider: MONDO:0021154 id: MONDO:0026166 name: obsolete genetic immune deficiency with skin involvement subset: ordo_group_of_disorders {source="Orphanet:183494"} -xref: GARD:20278 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497318,7 +496270,6 @@ consider: MONDO:0009453 id: MONDO:0026167 name: obsolete genetic neuromuscular disease subset: ordo_group_of_disorders {source="Orphanet:183497"} -xref: GARD:20279 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183497 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497330,7 +496281,6 @@ consider: MONDO:0100167 id: MONDO:0026170 name: obsolete genetic central nervous system malformation subset: ordo_group_of_disorders {source="Orphanet:183506"} -xref: GARD:20282 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183506 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497341,7 +496291,6 @@ consider: MONDO:0020022 id: MONDO:0026173 name: obsolete rare genetic medullar disease subset: ordo_group_of_disorders {source="Orphanet:183515"} -xref: GARD:20285 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183515 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497351,7 +496300,6 @@ is_obsolete: true id: MONDO:0026180 name: obsolete genetic congenital limb malformation subset: ordo_group_of_disorders {source="Orphanet:183536"} -xref: GARD:20292 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183536 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497361,7 +496309,6 @@ is_obsolete: true id: MONDO:0026181 name: obsolete genetic renal or urinary tract malformation subset: ordo_group_of_disorders {source="Orphanet:183539"} -xref: GARD:20293 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183539 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497371,7 +496318,6 @@ is_obsolete: true id: MONDO:0026182 name: obsolete genetic cranial malformation subset: ordo_group_of_disorders {source="Orphanet:183542"} -xref: GARD:20294 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183542 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497381,7 +496327,6 @@ is_obsolete: true id: MONDO:0026183 name: obsolete genetic digestive tract malformation subset: ordo_group_of_disorders {source="Orphanet:183545"} -xref: GARD:20295 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183545 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497391,7 +496336,6 @@ is_obsolete: true id: MONDO:0026184 name: obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen subset: ordo_group_of_disorders {source="Orphanet:183548"} -xref: GARD:20296 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183548 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497401,7 +496345,6 @@ is_obsolete: true id: MONDO:0026185 name: obsolete genetic respiratory or mediastinal malformation subset: ordo_group_of_disorders {source="Orphanet:183554"} -xref: GARD:20297 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497411,7 +496354,6 @@ is_obsolete: true id: MONDO:0026186 name: obsolete genetic developmental defect of the eye subset: ordo_group_of_disorders {source="Orphanet:183557"} -xref: GARD:20298 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497421,7 +496363,6 @@ is_obsolete: true id: MONDO:0026187 name: obsolete genetic malformation syndrome with short stature subset: ordo_group_of_disorders {source="Orphanet:183570"} -xref: GARD:20299 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183570 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497431,7 +496372,6 @@ is_obsolete: true id: MONDO:0026188 name: obsolete genetic overgrowth/obesity syndrome subset: ordo_group_of_disorders {source="Orphanet:183573"} -xref: GARD:20300 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183573 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497441,7 +496381,6 @@ is_obsolete: true id: MONDO:0026189 name: obsolete genetic branchial arch or oral-acral syndrome subset: ordo_group_of_disorders {source="Orphanet:183576"} -xref: GARD:20301 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183576 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497451,7 +496390,6 @@ is_obsolete: true id: MONDO:0026190 name: obsolete genetic malformation syndrome with odontal and/or periodontal component subset: ordo_group_of_disorders {source="Orphanet:183580"} -xref: GARD:20302 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183580 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497461,7 +496399,6 @@ is_obsolete: true id: MONDO:0026192 name: obsolete genetic glomerular disease subset: ordo_group_of_disorders {source="Orphanet:183586"} -xref: GARD:20304 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183586 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497471,7 +496408,6 @@ is_obsolete: true id: MONDO:0026193 name: obsolete genetic thrombotic microangiopathy subset: ordo_group_of_disorders {source="Orphanet:183589"} -xref: GARD:20305 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183589 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497481,7 +496417,6 @@ is_obsolete: true id: MONDO:0026203 name: obsolete genetic respiratory malformation subset: ordo_group_of_disorders {source="Orphanet:183622"} -xref: GARD:20311 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183622 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497491,7 +496426,6 @@ is_obsolete: true id: MONDO:0026209 name: obsolete genetic polyendocrinopathy subset: ordo_group_of_disorders {source="Orphanet:183643"} -xref: GARD:20317 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183643 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -497517,7 +496451,6 @@ id: MONDO:0026419 name: obsolete isolated corpus callosum agenesis def: "OBSOLETE. A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving. [Orphanet:200]" [Orphanet:200] subset: ordo_disorder {source="Orphanet:200"} -xref: GARD:18681 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q04.0 {source="MONDO:mondoIsNarrowerThanSource"} xref: icd11.foundation:2012425106 {source="MONDO:obsoleteEquivalent", source="Orphanet:200", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:200 {source="MONDO:obsoleteEquivalent"} @@ -497908,7 +496841,6 @@ is_obsolete: true id: MONDO:0026989 name: obsolete syndrome associated with hypertrophic cardiomyopathy subset: ordo_group_of_disorders {source="Orphanet:217595"} -xref: GARD:20523 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:217595 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -498249,7 +497181,6 @@ id: MONDO:0027750 name: obsolete serpinopathy with toxic serpin polymerization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy subset: ordo_group_of_disorders {source="Orphanet:250808"} -xref: GARD:20684 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:250808 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -498261,7 +497192,6 @@ id: MONDO:0027751 name: obsolete serpinopathy with loss of serpin function comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: serpinopathy subset: ordo_group_of_disorders {source="Orphanet:250811"} -xref: GARD:20685 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:250811 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -498322,7 +497252,6 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0027929 name: obsolete genetic polycythemia subset: ordo_group_of_disorders {source="Orphanet:250165"} -xref: GARD:20682 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:250165 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -498349,7 +497278,6 @@ intersection_of: has_characteristic HP:0000007 ! Autosomal recessive inheritance id: MONDO:0028569 name: obsolete genetic interstitial lung disease subset: ordo_group_of_disorders {source="Orphanet:264992"} -xref: GARD:20944 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:264992 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -498359,7 +497287,6 @@ is_obsolete: true id: MONDO:0028618 name: obsolete gastroenteric neuroendocrine neoplasm subset: ordo_group_of_disorders {source="Orphanet:481508"} -xref: GARD:21985 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:481508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -498372,7 +497299,6 @@ is_obsolete: true id: MONDO:0028737 name: obsolete biliary atresia disorder subset: ordo_group_of_disorders {source="Orphanet:498345"} -xref: GARD:22018 {source="MONDO:obsoleteEquivalent"} xref: HP:0005912 xref: NANDO:1200913 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200930 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -498407,7 +497333,6 @@ replaced_by: MONDO:0800094 id: MONDO:0028795 name: obsolete rare genetic systemic or rheumatologic disease subset: ordo_group_of_disorders {source="Orphanet:271870"} -xref: GARD:21018 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:271870 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -498417,7 +497342,6 @@ is_obsolete: true id: MONDO:0028868 name: obsolete genetic frontotemporal degeneration with dementia subset: ordo_group_of_disorders {source="Orphanet:276061"} -xref: GARD:21040 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:276061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -498460,7 +497384,6 @@ consider: MONDO:0029000 id: MONDO:0029014 name: obsolete rare systemic or rheumatological disease of childhood subset: ordo_group_of_disorders {source="Orphanet:280342"} -xref: GARD:21079 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:280342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPopulation"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -498479,7 +497402,6 @@ id: MONDO:0029051 name: obsolete autosomal recessive nail dysplasia def: "OBSOLETE. Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. [Orphanet:280654]" [Orphanet:280654] subset: ordo_disorder {source="Orphanet:280654"} -xref: GARD:18650 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q84.6 {source="MONDO:mondoIsNarrowerThanSource"} xref: OMIM:614157 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:280654 {source="MONDO:obsoleteEquivalent"} @@ -498492,7 +497414,6 @@ consider: HP:0002164 id: MONDO:0029102 name: obsolete autosomal ichthyosis syndrome with other associated signs subset: ordo_group_of_disorders {source="Orphanet:281244"} -xref: GARD:21114 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:281244 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -498804,7 +497725,6 @@ is_a: MONDO:0100172 {source="OMIM:617863"} ! intellectual disability, autosomal id: MONDO:0029810 name: obsolete laminopathy with striated muscle involvement subset: ordo_group_of_disorders {source="Orphanet:300755"} -xref: GARD:21240 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:300755 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -498815,7 +497735,6 @@ consider: MONDO:0021106 id: MONDO:0029811 name: obsolete laminopathy with peripheral neuropathy subset: ordo_group_of_disorders {source="Orphanet:300758"} -xref: GARD:21241 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:300758 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -498826,7 +497745,6 @@ consider: MONDO:0021106 id: MONDO:0029812 name: obsolete laminopathy with lipodystrophy subset: ordo_group_of_disorders {source="Orphanet:300763"} -xref: GARD:21242 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:300763 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -498837,7 +497755,6 @@ consider: MONDO:0021106 id: MONDO:0029813 name: obsolete laminopathy with premature aging subset: ordo_group_of_disorders {source="Orphanet:300766"} -xref: GARD:21243 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:300766 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -501581,6 +500498,8 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0030625 name: dyskinesia with orofacial involvement, autosomal recessive +subset: inferred_rare +subset: rare synonym: "DSKOR" EXACT ABBREVIATION [OMIM:619647] synonym: "dyskinesia with orofacial involvement, autosomal recessive" EXACT [OMIM:619647] xref: MEDGEN:1794246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501613,6 +500532,8 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:145420"} ! inheri id: MONDO:0030669 name: gastrointestinal defects and immunodeficiency syndrome 2 def: "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency." [OMIM:619708] +subset: inferred_rare +subset: rare synonym: "gastrointestinal defects and immunodeficiency syndrome 2" EXACT [OMIM:619708] synonym: "GIDID2" EXACT ABBREVIATION [OMIM:619708] synonym: "multiple intestinal atresia with or without leukopenia" EXACT [OMIM:619708] @@ -502278,7 +501199,6 @@ is_a: MONDO:0031280 {source="OMIM:619751"} ! Stuve-Wiedemann syndrome id: MONDO:0030767 name: obsolete genetic tumor of hematopoietic and lymphoid tissues subset: ordo_group_of_disorders {source="Orphanet:322126"} -xref: GARD:21434 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:322126 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -504450,7 +503370,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0031004 name: obsolete genetic disorder of sex development of gynecological interest subset: ordo_group_of_disorders {source="Orphanet:325665"} -xref: GARD:21480 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325665 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -504595,7 +503514,6 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity id: MONDO:0031016 name: obsolete genetic disorder of sex development subset: ordo_group_of_disorders {source="Orphanet:325690"} -xref: GARD:21481 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325690 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -504941,6 +503859,9 @@ is_a: MONDO:0019507 {source="DOID:0060945", source="OMIM:620104"} ! amelogenesis [Term] id: MONDO:0031115 name: dyskinesia with orofacial involvement +subset: nord_rare {source="MONDO:NORD"} +subset: rare +synonym: "ADCY5-Related Dyskinesia" EXACT [] xref: OMIMPS:606703 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIMPS:606703"} ! hereditary disease relationship: has_characteristic MONDO:0021152 {source="OMIMPS:606703"} ! inherited @@ -505369,7 +504290,6 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:619980"} ! inheri id: MONDO:0031689 name: obsolete genetic progeroid syndrome subset: ordo_group_of_disorders {source="Orphanet:363245"} -xref: GARD:21543 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E34.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:363245 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} @@ -505380,7 +504300,6 @@ is_obsolete: true id: MONDO:0031697 name: obsolete genetic intractable diarrhea of infancy subset: ordo_group_of_disorders {source="Orphanet:363300"} -xref: GARD:21546 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -505390,7 +504309,6 @@ is_obsolete: true id: MONDO:0031698 name: obsolete genetic intestinal disease due to fat malabsorption subset: ordo_group_of_disorders {source="Orphanet:363306"} -xref: GARD:21547 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:363306 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -505400,7 +504318,6 @@ is_obsolete: true id: MONDO:0031799 name: obsolete rare bone disease related to a common gene or pathway defect subset: ordo_group_of_disorders {source="Orphanet:364803"} -xref: GARD:21575 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:364803 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -505411,7 +504328,6 @@ consider: MONDO:0005381 id: MONDO:0031949 name: obsolete genetic neurovascular malformation subset: ordo_group_of_disorders {source="Orphanet:371436"} -xref: GARD:21614 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:371436 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -505421,7 +504337,6 @@ is_obsolete: true id: MONDO:0031952 name: obsolete genetic syndromic esophageal malformation subset: ordo_group_of_disorders {source="Orphanet:371445"} -xref: GARD:21616 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:371445 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -505461,7 +504376,6 @@ is_obsolete: true id: MONDO:0032221 name: obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism subset: ordo_group_of_disorders {source="Orphanet:399846"} -xref: GARD:21680 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:399846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -509135,6 +508049,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032820 name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies subset: ordo_disorder {source="Orphanet:659609"} +subset: orphanet_rare {source="Orphanet:659609"} +subset: rare synonym: "NEDBAF" RELATED ABBREVIATION [OMIM:618577] synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" RELATED [OMIM:618577] xref: MEDGEN:1684725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510021,7 +508937,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032885 name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type +subset: inferred_rare subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "SEMDIST" RELATED ABBREVIATION [OMIM:618728] synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE" RELATED [OMIM:618728] xref: MEDGEN:1684771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511220,7 +510138,6 @@ is_a: MONDO:0017312 {source="DOID:0080256", source="OMIM:617565"} ! Perrault syn id: MONDO:0033056 name: obsolete genetic facial cleft subset: ordo_group_of_disorders {source="Orphanet:414726"} -xref: GARD:21740 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:414726 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -511750,7 +510667,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033329 name: obsolete genetic precocious puberty subset: ordo_group_of_disorders {source="Orphanet:435554"} -xref: GARD:21806 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -511760,7 +510676,6 @@ is_obsolete: true id: MONDO:0033331 name: obsolete genetic precocious puberty in female subset: ordo_group_of_disorders {source="Orphanet:435564"} -xref: GARD:21808 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -511770,7 +510685,6 @@ is_obsolete: true id: MONDO:0033334 name: obsolete genetic nose and cavum anomaly subset: ordo_group_of_disorders {source="Orphanet:435606"} -xref: GARD:21810 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435606 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -511780,7 +510694,6 @@ is_obsolete: true id: MONDO:0033335 name: obsolete genetic larynx anomaly subset: ordo_group_of_disorders {source="Orphanet:435609"} -xref: GARD:21811 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435609 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -511790,7 +510703,6 @@ is_obsolete: true id: MONDO:0033336 name: obsolete genetic tracheal anomaly subset: ordo_group_of_disorders {source="Orphanet:435612"} -xref: GARD:21812 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:435612 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -513768,7 +512680,6 @@ relationship: excluded_subClassOf MONDO:0015889 {source="Orphanet:525738", sourc id: MONDO:0033927 name: obsolete genetic complex vascular malformation with associated anomalies subset: ordo_group_of_disorders {source="Orphanet:459537"} -xref: GARD:21922 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:459537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -513838,7 +512749,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033947 name: obsolete hereditary angioedema with normal C1Inh subset: otar {source="MONDO:OTAR"} -xref: GARD:22195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6740" xsd:anyURI @@ -513892,7 +512802,6 @@ id: MONDO:0033967 name: obsolete immune dysregulation with inflammatory bowel disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency due to a defect in adaptive immunity' subset: ordo_group_of_disorders {source="Orphanet:529974"} -xref: GARD:22203 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:529974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -514005,7 +512914,6 @@ subset: ordo_disorder {source="Orphanet:536545"} subset: otar {source="MONDO:OTAR"} synonym: "EDS VI" EXACT ABBREVIATION [Orphanet:536545] synonym: "kyphoscoliotic EDS" EXACT [Orphanet:536545] -xref: GARD:2083 {source="MONDO:obsoleteEquivalent"} xref: NANDO:1200649 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2201259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:536545 {source="MONDO:obsoleteEquivalent"} @@ -514022,7 +512930,6 @@ id: MONDO:0034028 name: obsolete symptomatic form of hemochromatosis type 1 def: "OBSOLETE. Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus." [Orphanet:465508] subset: ordo_disorder {source="Orphanet:465508"} -xref: GARD:10417 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:465508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeClinicalModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -514032,7 +512939,6 @@ is_obsolete: true id: MONDO:0034039 name: obsolete genetic hemoglobinopathy subset: ordo_group_of_disorders {source="Orphanet:466066"} -xref: GARD:21934 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:466066 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -514321,7 +513227,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0034147 name: obsolete neonatal epileptic encephalopathy due to glutaminase deficiency -xref: GARD:17994 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6329" xsd:anyURI is_obsolete: true @@ -514432,7 +513337,6 @@ id: MONDO:0034217 name: obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta subset: ordo_disorder {source="Orphanet:566243"} subset: otar {source="MONDO:OTAR"} -xref: GARD:18002 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E07.8 {source="Orphanet:Attributed", source="Orphanet:566243"} xref: Orphanet:566243 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -514446,7 +513350,6 @@ is_obsolete: true id: MONDO:0034443 name: obsolete genetic non-acquired premature ovarian failure subset: ordo_group_of_disorders {source="Orphanet:485382"} -xref: GARD:21992 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:485382 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -514469,7 +513372,6 @@ is_a: MONDO:0019624 {source="https://orcid.org/0000-0001-5208-3432"} ! acquired id: MONDO:0034641 name: obsolete rare genetic hyperkinetic movement disorder subset: ordo_group_of_disorders {source="Orphanet:496916"} -xref: GARD:22013 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:496916 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -514479,7 +513381,6 @@ is_obsolete: true id: MONDO:0034661 name: obsolete syndromic biliary atresia subset: ordo_group_of_disorders {source="Orphanet:498350"} -xref: GARD:22019 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514501,7 +513402,6 @@ replaced_by: MONDO:0800092 id: MONDO:0034667 name: obsolete longitudinal limb defect subset: ordo_group_of_disorders {source="Orphanet:498457"} -xref: GARD:22024 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498457 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -514511,7 +513411,6 @@ is_obsolete: true id: MONDO:0034668 name: obsolete terminal transverse limb defect subset: ordo_group_of_disorders {source="Orphanet:498461"} -xref: GARD:22025 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498461 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -514521,7 +513420,6 @@ is_obsolete: true id: MONDO:0034669 name: obsolete non-syndromic preaxial polydactyly subset: ordo_group_of_disorders {source="Orphanet:498464"} -xref: GARD:22026 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498464 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514534,7 +513432,6 @@ is_obsolete: true id: MONDO:0034670 name: obsolete non-syndromic postaxial polydactyly subset: ordo_group_of_disorders {source="Orphanet:498467"} -xref: GARD:22027 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498467 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514547,7 +513444,6 @@ is_obsolete: true id: MONDO:0034671 name: obsolete non-syndromic complex polydactyly subset: ordo_group_of_disorders {source="Orphanet:498470"} -xref: GARD:22028 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498470 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514585,7 +513481,6 @@ id: MONDO:0034678 name: obsolete mirror-image polydactyly def: "OBSOLETE. A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies. [Orphanet:498494]" [Orphanet:498494] subset: ordo_disorder {source="Orphanet:498494"} -xref: GARD:22034 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498494 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -514596,7 +513491,6 @@ id: MONDO:0034733 name: obsolete cochlear nerve deficiency def: "OBSOLETE. A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. [Orphanet:502318]" [Orphanet:502318] subset: ordo_disorder {source="Orphanet:502318"} -xref: GARD:22045 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H93.3 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:502318 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -514608,7 +513502,6 @@ id: MONDO:0034819 name: obsolete familial intestinal malrotation def: "OBSOLETE. A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies." [Orphanet:508410] subset: ordo_disorder {source="Orphanet:508410"} -xref: GARD:22067 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:508410 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -514673,7 +513566,6 @@ is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder id: MONDO:0034872 name: obsolete large granular lymphocyte leukemia subset: ordo_group_of_disorders {source="Orphanet:512034"} -xref: GARD:22073 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:512034 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514701,7 +513593,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0034901 name: obsolete ATP13A2-related parkinsonism subset: ordo_group_of_disorders {source="Orphanet:514980"} -xref: GARD:22077 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:514980 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514712,7 +513603,6 @@ is_obsolete: true id: MONDO:0034923 name: obsolete inflammatory/autoimmune disorder involving the lacrimal system subset: ordo_group_of_disorders {source="Orphanet:519264"} -xref: GARD:22078 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519264 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514723,7 +513613,6 @@ consider: MONDO:0007179 id: MONDO:0034926 name: obsolete rare disorder with entropion subset: ordo_group_of_disorders {source="Orphanet:519270"} -xref: GARD:22081 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519270 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514733,7 +513622,6 @@ is_obsolete: true id: MONDO:0034931 name: obsolete rare conjunctivitis subset: ordo_group_of_disorders {source="Orphanet:519280"} -xref: GARD:22086 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519280 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -514744,7 +513632,6 @@ consider: MONDO:0003799 id: MONDO:0034937 name: obsolete syndromic ectopia lentis subset: ordo_group_of_disorders {source="Orphanet:519292"} -xref: GARD:22092 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519292 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -514755,7 +513642,6 @@ consider: HP:0001083 id: MONDO:0034943 name: obsolete isolated vitreoretinopathy subset: ordo_group_of_disorders {source="Orphanet:519304"} -xref: GARD:22098 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519304 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -514766,7 +513652,6 @@ consider: HP:0007773 id: MONDO:0034953 name: obsolete syndromic inherited retinal disorder subset: ordo_group_of_disorders {source="Orphanet:519325"} -xref: GARD:22108 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519325 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514777,7 +513662,6 @@ consider: MONDO:0005283 id: MONDO:0034954 name: obsolete syndromic vitreoretinopathy subset: ordo_group_of_disorders {source="Orphanet:519327"} -xref: GARD:22109 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -514790,7 +513674,6 @@ is_obsolete: true id: MONDO:0034961 name: obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature subset: ordo_group_of_disorders {source="Orphanet:519341"} -xref: GARD:22115 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519341 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514801,7 +513684,6 @@ consider: MONDO:0005560 id: MONDO:0034962 name: obsolete rare ophthalmic disorder with cortical involvement subset: ordo_group_of_disorders {source="Orphanet:519343"} -xref: GARD:22116 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519343 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514812,7 +513694,6 @@ consider: MONDO:0005328 id: MONDO:0034965 name: obsolete rare ophthalmic disorder with cranial nerve involvement subset: ordo_group_of_disorders {source="Orphanet:519349"} -xref: GARD:22119 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519349 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -514823,7 +513704,6 @@ consider: MONDO:0005328 id: MONDO:0034968 name: obsolete rare ocular motility/alignment disorder subset: ordo_group_of_disorders {source="Orphanet:519355"} -xref: GARD:22122 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:519355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -514869,7 +513749,6 @@ id: MONDO:0034977 name: obsolete isolated microspherophakia def: "OBSOLETE. A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma." [Orphanet:519396] subset: ordo_disorder {source="Orphanet:519396"} -xref: GARD:22126 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q12.4 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:1194029577 {source="MONDO:obsoleteEquivalent", source="Orphanet:519396", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:519396 {source="MONDO:obsoleteEquivalent"} @@ -514899,7 +513778,6 @@ id: MONDO:0034979 name: obsolete peripapillary staphyloma def: "OBSOLETE. A rare congenital optic disk excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disk. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [Orphanet:519400]" [Orphanet:519400] subset: ordo_disorder {source="Orphanet:519400"} -xref: GARD:22128 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:519400 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -514911,7 +513789,6 @@ id: MONDO:0034980 name: obsolete isolated megalopapilla def: "OBSOLETE. A rare ophthalmic disorder characterized by an abnormally large optic disk (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disk, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla." [Orphanet:519402] subset: ordo_disorder {source="Orphanet:519402"} -xref: GARD:22129 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: icd11.foundation:1410300100 {source="MONDO:obsoleteEquivalent", source="Orphanet:519402", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:519402 {source="MONDO:obsoleteEquivalent"} @@ -514924,7 +513801,6 @@ id: MONDO:0034981 name: obsolete optic disk pit def: "OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disk. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disk, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]" [Orphanet:519404] subset: ordo_disorder {source="Orphanet:519404"} -xref: GARD:22130 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q14.2 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:519404 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -514978,7 +513854,6 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035001 name: obsolete rare disorder of the visual organs subset: ordo_group_of_disorders {source="Orphanet:520814"} -xref: GARD:22135 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:520814 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -514989,7 +513864,6 @@ consider: MONDO:0021084 id: MONDO:0035002 name: obsolete isolated inherited retinal disorder subset: ordo_group_of_disorders {source="Orphanet:520817"} -xref: GARD:22136 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:520817 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -515049,7 +513923,6 @@ is_a: MONDO:0005020 {source="Orphanet:565641"} ! intestinal disorder id: MONDO:0035013 name: obsolete genetic primary orthostatic disorder subset: ordo_group_of_disorders {source="Orphanet:521232"} -xref: GARD:22140 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:521232 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -515059,7 +513932,6 @@ is_obsolete: true id: MONDO:0035014 name: obsolete primary orthostatic disorder subset: ordo_group_of_disorders {source="Orphanet:521236"} -xref: GARD:22141 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:521236 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -515100,7 +513972,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035037 name: obsolete rare genetic disorder of the visual organs subset: ordo_group_of_disorders {source="Orphanet:522504"} -xref: GARD:22149 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:522504 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -515110,7 +513981,6 @@ is_obsolete: true id: MONDO:0035075 name: obsolete secondary early-onset glaucoma of genetic origin subset: ordo_group_of_disorders {source="Orphanet:522580"} -xref: GARD:22186 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:522580 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -515330,7 +514200,6 @@ is_a: MONDO:0005070 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035160 name: obsolete progressive myoclonic epilepsy with neuroserpin inclusion bodies subset: nord_rare {source="MONDO:NORD"} -xref: GARD:22207 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6406" xsd:anyURI is_obsolete: true @@ -515358,7 +514227,6 @@ subset: ordo_group_of_disorders {source="Orphanet:530313"} subset: otar {source="MONDO:OTAR"} synonym: "PIK3CA-Related Overgrowth Spectrum" EXACT [NORD:2036] synonym: "PROS" EXACT ABBREVIATION [Orphanet:530313] -xref: GARD:22209 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:530313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -515472,7 +514340,6 @@ id: MONDO:0035249 name: obsolete anomalous aortic origin of the left coronary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia. [Orphanet:541443]" [Orphanet:541443] subset: ordo_disorder {source="Orphanet:541443"} -xref: GARD:22224 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -515484,7 +514351,6 @@ id: MONDO:0035250 name: obsolete anomalous aortic origin of the right coronary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present. [Orphanet:541454]" [Orphanet:541454] subset: ordo_disorder {source="Orphanet:541454"} -xref: GARD:22225 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541454 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -515496,7 +514362,6 @@ id: MONDO:0035251 name: obsolete anomalous aortic origin of coronary artery def: "OBSOLETE. A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed. [Orphanet:541478]" [Orphanet:541478] subset: ordo_group_of_disorders {source="Orphanet:541478"} -xref: GARD:22226 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:541478 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -515508,7 +514373,6 @@ id: MONDO:0035252 name: obsolete anomalous origin of coronary artery from the pulmonary artery def: "OBSOLETE. A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed. [Orphanet:541507]" [Orphanet:541507] subset: ordo_disorder {source="Orphanet:541507"} -xref: GARD:22227 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q24.5 {source="MONDO:mondoIsNarrowerThanSource"} xref: icd11.foundation:1862930314 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:541507"} xref: Orphanet:541507 {source="MONDO:obsoleteEquivalent"} @@ -515521,7 +514385,6 @@ id: MONDO:0035267 name: obsolete quadricuspid aortic valve def: "OBSOLETE. A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom. [Orphanet:542568]" [Orphanet:542568] subset: ordo_disorder {source="Orphanet:542568"} -xref: GARD:22229 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:542568 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -515532,7 +514395,6 @@ id: MONDO:0035274 name: obsolete anomaly of the coronary ostia def: "OBSOLETE. A group of rare congenital coronary artery malformations comprising abnormal number of coronary ostia, malposition of a coronary ostium, and stenosis or atresia of a coronary ostium. Patients may remain asymptomatic or present with variable signs and symptoms, depending on the nature and severity of the malformation, including failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, and myocardial ischemia. [Orphanet:542822]" [Orphanet:542822] subset: ordo_group_of_disorders {source="Orphanet:542822"} -xref: GARD:22230 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:542822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -515622,7 +514484,6 @@ id: MONDO:0035314 name: obsolete congenital tricuspid valve dysplasia def: "OBSOLETE. A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur. [Orphanet:555874]" [Orphanet:555874] subset: ordo_disorder {source="Orphanet:555874"} -xref: GARD:22241 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:Q22.8 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:555874 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -515669,7 +514530,6 @@ is_a: MONDO:0018541 {source="Orphanet:556037", source="https://orcid.org/0000-00 id: MONDO:0035328 name: obsolete rare disorder due to poisoning subset: ordo_group_of_disorders {source="Orphanet:556508"} -xref: GARD:22245 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:556508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOrigin"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -515701,7 +514561,6 @@ is_a: MONDO:0007473 {source="https://orcid.org/0000-0001-5208-3432"} ! Duane ret id: MONDO:0035340 name: obsolete rare disorder with hirschsprung disease as a major feature subset: ordo_group_of_disorders {source="Orphanet:557866"} -xref: GARD:22248 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:557866 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -515885,7 +514744,6 @@ name: obsolete hypomyelination of early myelinating structures comment: Reason: is a phenotype and not a disease. subset: ordo_disorder {source="Orphanet:599376"} synonym: "HEMS" EXACT ABBREVIATION [Orphanet:599376] -xref: GARD:22405 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:599376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3544" xsd:anyURI @@ -516071,7 +514929,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035426 name: obsolete rare disorder potentially indicated for transplant or complication after transplantation subset: ordo_group_of_disorders {source="Orphanet:565779"} -xref: GARD:22536 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:565779 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4784" xsd:anyURI @@ -516214,7 +515071,6 @@ id: MONDO:0035448 name: obsolete aprosencephaly/atelencephaly spectrum def: "OBSOLETE. A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i. e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. [Orphanet:566847]" [Orphanet:566847] subset: ordo_disorder {source="Orphanet:566847"} -xref: GARD:22279 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:566847 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516257,7 +515113,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0035451 name: obsolete left sided atrial isomerism subset: ordo_disorder {source="Orphanet:566862"} -xref: GARD:22282 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:566862 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516334,7 +515189,6 @@ is_a: MONDO:0018170 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035461 name: obsolete systemic disease with glomerulopathy as a major feature subset: ordo_group_of_disorders {source="Orphanet:567554"} -xref: GARD:22289 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:567554 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -516344,7 +515198,6 @@ is_obsolete: true id: MONDO:0035466 name: obsolete nephrotic syndrome without extrarenal manifestations subset: ordo_group_of_disorders {source="Orphanet:567564"} -xref: GARD:22294 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:567564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -516355,7 +515208,6 @@ consider: MONDO:0005377 id: MONDO:0035469 name: obsolete primary lymphedema without systemic or visceral involvement subset: ordo_group_of_disorders {source="Orphanet:568041"} -xref: GARD:22296 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:568041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -516366,7 +515218,6 @@ consider: MONDO:0019175 id: MONDO:0035470 name: obsolete primary lymphedema with systemic or visceral involvement subset: ordo_group_of_disorders {source="Orphanet:568044"} -xref: GARD:22297 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:568044 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -516377,7 +515228,6 @@ consider: MONDO:0019175 id: MONDO:0035471 name: obsolete disorder with multisystemic involvement and primary lymphedema subset: ordo_group_of_disorders {source="Orphanet:568047"} -xref: GARD:22298 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:568047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -516605,7 +515455,6 @@ is_a: MONDO:0021227 {source="Orphanet:573163"} ! adrenal gland neoplasm id: MONDO:0035541 name: obsolete split cord malformation type II subset: ordo_disorder {source="Orphanet:573253"} -xref: GARD:22316 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:573253 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516615,7 +515464,6 @@ is_obsolete: true id: MONDO:0035542 name: obsolete split cord malformation subset: ordo_group_of_disorders {source="Orphanet:573278"} -xref: GARD:22317 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:573278 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516624,6 +515472,9 @@ is_obsolete: true [Term] id: MONDO:0035547 name: obsolete predisposition to severe viral infection due to IRF7 deficiency +subset: nord_rare {source="MONDO:NORD"} +xref: MEDGEN:1830120 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"} +xref: UMLS:C5681719 {source="MONDO:obsoleteEquivalent", source="MEDGEN:1830120", source="MONDO:MEDGEN"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7513" xsd:anyURI is_obsolete: true @@ -516666,7 +515517,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035554 name: obsolete complete atrioventricular septal defect without ventricular hypoplasia subset: ordo_subtype_of_a_disorder {source="Orphanet:576227"} -xref: GARD:22322 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:576227 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516676,7 +515526,6 @@ is_obsolete: true id: MONDO:0035555 name: obsolete partial atrioventricular septal defect with ventricular hypoplasia subset: ordo_subtype_of_a_disorder {source="Orphanet:576232"} -xref: GARD:22323 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:576232 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516686,7 +515535,6 @@ is_obsolete: true id: MONDO:0035556 name: obsolete partial atrioventricular septal defect without ventricular hypoplasia subset: ordo_subtype_of_a_disorder {source="Orphanet:576235"} -xref: GARD:22324 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:576235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516696,7 +515544,6 @@ is_obsolete: true id: MONDO:0035557 name: obsolete intermediate atrioventricular septal defect subset: ordo_disorder {source="Orphanet:576242"} -xref: GARD:22325 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:576242 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516707,7 +515554,6 @@ id: MONDO:0035561 name: obsolete sporadic human prion disease subset: ordo_group_of_disorders {source="Orphanet:576356"} synonym: "idiopathic human prion disease" EXACT [Orphanet:576356] -xref: GARD:22327 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:576356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -516734,7 +515580,6 @@ id: MONDO:0035581 name: obsolete lethal brain and heart developmental defects def: "OBSOLETE. A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss. [Orphanet:580933]" [] subset: ordo_disorder {source="Orphanet:580933"} -xref: GARD:22332 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:580933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -516875,7 +515720,6 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0035645 name: obsolete inherited gynecological cancer-predisposing syndrome subset: ordo_group_of_disorders {source="Orphanet:589746"} -xref: GARD:22360 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:589746 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517189,7 +516033,6 @@ subset: ordo_group_of_disorders {source="Orphanet:595216"} synonym: "FD/MAS spectrum" EXACT [Orphanet:595216] synonym: "FD/MAS syndrome" EXACT [Orphanet:595216] synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [Orphanet:595216] -xref: GARD:22384 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:595216 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517200,7 +516043,6 @@ is_obsolete: true id: MONDO:0035683 name: obsolete adrenal hypoplasia congenita subset: ordo_group_of_disorders {source="Orphanet:595337"} -xref: GARD:22385 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:595337 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517212,7 +516054,6 @@ id: MONDO:0035684 name: obsolete epidermolysis bullosa simplex without extracutaneous involvement subset: ordo_group_of_disorders {source="Orphanet:595346"} synonym: "EBS without extracutaneous involvement" EXACT [Orphanet:595346] -xref: GARD:22386 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:595346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517226,7 +516067,6 @@ name: obsolete epidermolysis bullosa simplex with extracutaneous involvement subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:595351"} synonym: "EBS with extracutaneous involvement" EXACT [Orphanet:595351] -xref: GARD:22387 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:595351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517238,7 +516078,6 @@ is_obsolete: true id: MONDO:0035689 name: obsolete syndrome of reduced sensitivity to thyroid hormone subset: ordo_group_of_disorders {source="Orphanet:596426"} -xref: GARD:22390 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:596426 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517566,7 +516405,6 @@ is_a: MONDO:0001751 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035780 name: obsolete non-syndromic anorectal malformation with perineal fistula subset: ordo_disorder {source="Orphanet:600952"} -xref: GARD:22420 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:600952 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517576,7 +516414,6 @@ is_obsolete: true id: MONDO:0035781 name: obsolete non-syndromic anorectal malformation with rectourethral fistula subset: ordo_disorder {source="Orphanet:600961"} -xref: GARD:22421 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:600961 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517618,7 +516455,6 @@ is_a: MONDO:0019938 {source="https://orcid.org/0000-0001-5208-3432", source="htt id: MONDO:0035784 name: obsolete non-syndromic anorectal malformation with rectovesical fistula subset: ordo_disorder {source="Orphanet:600984"} -xref: GARD:22424 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:600984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517628,7 +516464,6 @@ is_obsolete: true id: MONDO:0035785 name: obsolete non-syndromic anorectal malformation with vestibular fistula subset: ordo_disorder {source="Orphanet:600993"} -xref: GARD:22425 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:600993 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517638,7 +516473,6 @@ is_obsolete: true id: MONDO:0035786 name: obsolete non-syndromic cloacal malformation subset: ordo_disorder {source="Orphanet:600998"} -xref: GARD:22426 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:600998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517648,7 +516482,6 @@ is_obsolete: true id: MONDO:0035787 name: obsolete non-syndromic anorectal malformation without fistula subset: ordo_disorder {source="Orphanet:601002"} -xref: GARD:22427 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601002 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517658,7 +516491,6 @@ is_obsolete: true id: MONDO:0035788 name: obsolete non-syndromic anorectal malformation with anal stenosis subset: ordo_disorder {source="Orphanet:601008"} -xref: GARD:22428 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601008 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517668,7 +516500,6 @@ is_obsolete: true id: MONDO:0035789 name: obsolete non-syndromic anorectal malformation with pouch colon subset: ordo_disorder {source="Orphanet:601013"} -xref: GARD:22429 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601013 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517678,7 +516509,6 @@ is_obsolete: true id: MONDO:0035790 name: obsolete non-syndromic anorectal malformation with rectal atresia subset: ordo_disorder {source="Orphanet:601018"} -xref: GARD:22430 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601018 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517688,7 +516518,6 @@ is_obsolete: true id: MONDO:0035791 name: obsolete non-syndromic anorectal malformation with rectal stenosis subset: ordo_disorder {source="Orphanet:601023"} -xref: GARD:22431 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517698,7 +516527,6 @@ is_obsolete: true id: MONDO:0035792 name: obsolete non-syndromic anorectal malformation with rectovaginal fistula subset: ordo_disorder {source="Orphanet:601028"} -xref: GARD:22432 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517708,7 +516536,6 @@ is_obsolete: true id: MONDO:0035793 name: obsolete non-syndromic anorectal malformation with h-type fistula subset: ordo_disorder {source="Orphanet:601033"} -xref: GARD:22433 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:601033 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4776" xsd:anyURI @@ -517812,7 +516639,6 @@ is_a: MONDO:0015564 {source="Orphanet:570431", source="https://orcid.org/0000-00 id: MONDO:0035862 name: obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome subset: ordo_group_of_disorders {source="Orphanet:611314"} -xref: GARD:22440 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:611314 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -517823,7 +516649,6 @@ consider: MONDO:0000508 id: MONDO:0035863 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability subset: ordo_group_of_disorders {source="Orphanet:611327"} -xref: GARD:22441 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:611327 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -518674,7 +517499,6 @@ intersection_of: disease_has_infectious_agent NCBITaxon:287 ! Pseudomonas aerugi id: MONDO:0037716 name: obsolete rare genetic deafness subset: ordo_group_of_disorders {source="Orphanet:96210"} -xref: GARD:19346 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:96210 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifierRare", source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -519020,7 +517844,6 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond id: MONDO:0037860 name: obsolete rare systemic or rheumatologic disease subset: ordo_group_of_disorders {source="Orphanet:98023"} -xref: GARD:22525 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingModifier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4781" xsd:anyURI @@ -519144,7 +517967,6 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0038261 name: obsolete genetic neurological channelopathy of the central nervous system subset: ordo_group_of_disorders {source="Orphanet:98743"} -xref: GARD:19568 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98743 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4779" xsd:anyURI @@ -519154,7 +517976,6 @@ is_obsolete: true id: MONDO:0038268 name: obsolete autoimmune neurological channelopathy subset: ordo_group_of_disorders {source="Orphanet:98750"} -xref: GARD:19575 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -521256,7 +520077,6 @@ name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_group_of_disorders {source="Orphanet:183533"} synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] -xref: GARD:20291 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183533 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -521286,7 +520106,6 @@ subset: ordo_group_of_disorders {source="Orphanet:330206"} synonym: "genetic MCA" EXACT [Orphanet:330206] synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary] -xref: GARD:21507 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:330206 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -526450,7 +525269,6 @@ name: obsolete genetic transient congenital hypothyroidism def: "OBSOLETE. An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_disorder {source="Orphanet:226316"} synonym: "hereditary transient congenital hypothyroidism" EXACT [MONDO:patterns/hereditary] -xref: GARD:20564 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:P72.2 {source="Orphanet:226316"} xref: Orphanet:226316 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} @@ -526892,7 +525710,6 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0044618 name: obsolete CLCN4-related X-linked intellectual disability syndrome -xref: GARD:17880 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6328" xsd:anyURI is_obsolete: true @@ -527153,7 +525970,6 @@ id: MONDO:0044636 name: obsolete rare hyperkinetic movement disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:494457"} -xref: GARD:22008 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:494457 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -527456,7 +526272,6 @@ name: obsolete c12orf65-related combined oxidative phosphorylation defect subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:497623"} synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623] -xref: GARD:22015 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:497623 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -532080,7 +530895,6 @@ is_a: MONDO:0015375 {source="DOID:0060961", source="OMIM:617927", source="https: id: MONDO:0054771 name: keratoconus 9 subset: gard_rare {source="MONDO:GARD"} -subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoconus 9" EXACT [OMIM:617928] synonym: "KTCN9" RELATED ABBREVIATION [OMIM:617928] @@ -534232,7 +533046,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060760 name: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "IDDFBA" RELATED ABBREVIATION [OMIM:618089] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [OMIM:618089] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" RELATED OMO:0003005 [] @@ -535835,7 +534651,9 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100087 name: familial Alzheimer disease def: "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner." [GARD:0000632] +subset: inferred_rare subset: otar {source="MONDO:OTAR"} +subset: rare synonym: "Alzheimer disease, familial" EXACT [DOID:10652, MESH:C536597] synonym: "FAD" EXACT ABBREVIATION [GARD:0000632] synonym: "GARD:0000632" EXACT [MONDO:equivalentTo] @@ -536407,6 +535225,7 @@ name: GNPTAB-mucolipidosis def: "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β." [PMID:20301728, PMID:32651481] subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GNPTAB-related disorder" EXACT [PMID:20301728, PMID:32651481] @@ -537441,7 +536260,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "ApoA-I deficiency" EXACT [Orphanet:425] synonym: "familial apoA-I deficiency" EXACT [Orphanet:425] synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425] -xref: GARD:2872 {source="MONDO:obsoleteEquivalent"} xref: NANDO:2200605 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:425 {source="MONDO:obsoleteEquivalent"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -538138,7 +536956,6 @@ synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687] synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325] synonym: "Heimler syndrome" EXACT [Orphanet:3220] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687] -xref: GARD:1687 {source="MONDO:obsoleteEquivalent"} xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"} xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"} xref: SCTID:721085000 {source="MONDO:obsoleteEquivalent"} @@ -544495,7 +543312,6 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-414 [Term] id: MONDO:0700042 name: obsolete X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency -xref: GARD:12915 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6764" xsd:anyURI is_obsolete: true @@ -547328,7 +546144,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0700275 name: prostate cancer, hereditary def: "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." [MONDO:patterns/hereditary, Orphanet:1331] -xref: GARD:4520 +subset: ordo_disorder {source="Orphanet:1331"} +subset: orphanet_rare {source="Orphanet:1331"} +subset: rare xref: MESH:C537243 {source="MONDO:equivalentTo"} xref: OMIM:176807 {source="MONDO:equivalentTo"} xref: Orphanet:1331 {source="MONDO:equivalentTo"} @@ -547986,7 +546804,6 @@ subset: otar {source="MONDO:OTAR"} synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444] synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444] -xref: GARD:19200 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93444 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -547999,7 +546816,6 @@ is_obsolete: true id: MONDO:0800085 name: obsolete dysostosis with predominant craniofacial involvement subset: ordo_group_of_disorders {source="Orphanet:93453"} -xref: GARD:19207 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:2114373392 {source="MONDO:obsoleteEquivalent", source="Orphanet:93453", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93453 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -548016,7 +546832,6 @@ subset: ordo_group_of_disorders {source="Orphanet:93441"} subset: otar {source="MONDO:OTAR"} synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441] synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441] -xref: GARD:19198 {source="MONDO:obsoleteEquivalent"} xref: icd11.foundation:689620137 {source="Orphanet:93441", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -548030,7 +546845,6 @@ is_obsolete: true id: MONDO:0800087 name: obsolete type 11 collagen-related bone disorder subset: ordo_group_of_disorders {source="Orphanet:93422"} -xref: GARD:19187 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93422 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548063,7 +546877,6 @@ synonym: "primary osteodysplasia with disorganised development of skeletal compo synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] -xref: GARD:19205 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548076,7 +546889,6 @@ is_obsolete: true id: MONDO:0800090 name: obsolete ectrodactyly with and without other manifestations subset: ordo_group_of_disorders {source="Orphanet:498477"} -xref: GARD:22030 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498477 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548089,7 +546901,6 @@ is_obsolete: true id: MONDO:0800091 name: obsolete overgrowth or tall stature syndrome with skeletal involvement subset: ordo_group_of_disorders {source="Orphanet:498448"} -xref: GARD:22021 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498448 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548103,7 +546914,6 @@ id: MONDO:0800092 name: obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy subset: ordo_group_of_disorders {source="Orphanet:498445"} synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [Orphanet:498445] -xref: GARD:22020 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498445 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548116,7 +546926,6 @@ is_obsolete: true id: MONDO:0800093 name: obsolete dysostosis with brachydactyly without extraskeletal manifestations subset: ordo_group_of_disorders {source="Orphanet:498451"} -xref: GARD:22022 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498451 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548129,7 +546938,6 @@ is_obsolete: true id: MONDO:0800094 name: obsolete dysostosis with brachydactyly with extraskeletal manifestations subset: ordo_group_of_disorders {source="Orphanet:498454"} -xref: GARD:22023 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:498454 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548142,7 +546950,6 @@ is_obsolete: true id: MONDO:0800095 name: obsolete syndrome with synostosis or other joint formation defect subset: ordo_group_of_disorders {source="Orphanet:93459"} -xref: GARD:19212 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:93459 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -554292,6 +553099,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0859206 name: neurodevelopmental disorder with hearing loss and spasticity subset: ordo_disorder {source="Orphanet:659975"} +subset: orphanet_rare {source="Orphanet:659975"} +subset: rare xref: MEDGEN:1794234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619616 {source="MONDO:equivalentTo"} xref: Orphanet:659975 {source="MONDO:equivalentTo"} @@ -554740,6 +553549,8 @@ is_a: MONDO:0700092 {source="OMIM:619908"} ! neurodevelopmental disorder id: MONDO:0859257 name: intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism subset: ordo_disorder {source="Orphanet:660017"} +subset: orphanet_rare {source="Orphanet:660017"} +subset: rare xref: MEDGEN:1805453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619911 {source="MONDO:equivalentTo"} xref: Orphanet:660017 {source="MONDO:equivalentTo"} @@ -555597,6 +554408,8 @@ is_a: MONDO:0004983 {source="OMIM:620222"} ! spermatogenic failure [Term] id: MONDO:0859365 name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures +subset: nord_rare {source="MONDO:NORD"} +subset: rare xref: MEDGEN:1840880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620224 {source="MONDO:equivalentTo"} xref: UMLS:C5830244 {source="MONDO:equivalentTo", source="MEDGEN:1840880", source="MONDO:MEDGEN"} @@ -556586,7 +555399,6 @@ is_a: MONDO:0859592 {source="DOID:0081282"} ! IDH-mutant and 1p/19q-codeleted ol id: MONDO:0957001 name: obsolete hereditary mixed dermis disorder subset: ordo_group_of_disorders {source="Orphanet:183481"} -xref: GARD:20274 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:183481 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -556627,7 +555439,6 @@ id: MONDO:0957009 name: obsolete hereditary posterior fossa malformation subset: ordo_group_of_disorders {source="Orphanet:269557"} synonym: "genetic posterior fossa malformation" EXACT [Orphanet:269557] -xref: GARD:21005 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:269557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -556655,7 +555466,6 @@ id: MONDO:0957024 name: obsolete hereditary 46,XX disorder of sex development subset: ordo_group_of_disorders {source="Orphanet:325697"} synonym: "genetic 46,XX disorder of sex development" EXACT [Orphanet:325697] -xref: GARD:21482 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325697 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -556670,7 +555480,6 @@ id: MONDO:0957025 name: obsolete hereditary 46,XY disorder of sex development subset: ordo_group_of_disorders {source="Orphanet:325706"} synonym: "genetic 46,XY disorder of sex development" EXACT [Orphanet:325706] -xref: GARD:21483 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:325706 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -557328,6 +556137,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167030"} ! inheri [Term] id: MONDO:0957319 name: obsolete pseudohypoaldosteronism, type I +subset: gard_rare {source="MONDO:GARD"} property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7273" xsd:anyURI is_obsolete: true @@ -557448,7 +556258,6 @@ is_a: MONDO:0015137 {source="https://orcid.org/0000-0001-5208-3432"} ! periodic id: MONDO:0957404 name: obsolete pyogenic autoinflammatory syndrome of childhood subset: ordo_group_of_disorders {source="Orphanet:324942"} -xref: GARD:21459 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:324942 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping", source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6742" xsd:anyURI @@ -560917,6 +559726,8 @@ is_a: MONDO:0011476 {source="OMIM:604571", source="https://orcid.org/0000-0002-4 id: MONDO:0971007 name: neuroocular syndrome 1 subset: ordo_disorder {source="Orphanet:659904"} +subset: orphanet_rare {source="Orphanet:659904"} +subset: rare xref: OMIM:619539 {source="MONDO:equivalentTo"} xref: Orphanet:659904 {source="MONDO:equivalentTo"} is_a: MONDO:0859193 {source="OMIM:619539", source="https://orcid.org/0000-0002-4142-7167"} ! neuroocular syndrome @@ -561022,7 +559833,9 @@ is_a: MONDO:0020066 {source="OMIM:620865", source="https://orcid.org/0000-0002-4 id: MONDO:0971062 name: developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation def: "An intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism in which the cause of the disease is a point mutation in the gene NR4A2." [https://orcid.org/0000-0002-4142-7153, MONDO:patterns/disease_series_by_gene, Orphanet:660012] +subset: inferred_rare subset: ordo_subtype_of_a_disorder {source="Orphanet:660012"} +subset: rare xref: OMIM:619911 {source="MONDO:mondoIsNarrowerThanSource"} xref: Orphanet:660012 {source="MONDO:equivalentTo"} is_a: MONDO:0859257 {source="Orphanet:660012", source="https://orcid.org/0000-0002-4142-7153"} ! intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism @@ -561034,6 +559847,8 @@ id: MONDO:0971063 name: autosomal dominant dopa-responsive dystonia def: "A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age." [Orphanet:98808] subset: ordo_disorder {source="Orphanet:98808"} +subset: orphanet_rare {source="Orphanet:98808"} +subset: rare xref: OMIM:128230 {source="MONDO:mondoIsBroaderThanSource"} xref: OMIM:619911 {source="MONDO:mondoIsBroaderThanSource"} xref: Orphanet:98808 {source="MONDO:equivalentTo"} @@ -561044,12 +559859,16 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0971149 name: spastic paraplegia 30b, autosomal recessive +subset: inferred_rare +subset: rare xref: OMIM:620607 {source="MONDO:equivalentTo"} is_a: MONDO:0019064 {source="OMIM:620607", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary spastic paraplegia [Term] id: MONDO:0971150 name: neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity +subset: inferred_rare +subset: rare xref: OMIM:620854 {source="MONDO:equivalentTo"} is_a: MONDO:0015363 {source="OMIM:620854", source="https://orcid.org/0000-0002-4142-7153"} ! neuronopathy, distal hereditary motor, autosomal recessive @@ -561062,6 +559881,8 @@ is_a: MONDO:0021094 {source="OMIM:620869", source="https://orcid.org/0000-0002-4 [Term] id: MONDO:0971152 name: hearing loss, autosomal recessive 125 +subset: inferred_rare +subset: rare synonym: "deafness, autosomal recessive 125" NARROW [https://orcid.org/0000-0002-4142-7153, OMIM:620877] xref: OMIM:620877 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620877", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive @@ -561070,12 +559891,16 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql [Term] id: MONDO:0971170 name: prostate cancer, hereditary, X-linked 3 +subset: inferred_rare +subset: rare xref: OMIM:301120 {source="MONDO:equivalentTo"} is_a: MONDO:0015356 {source="OMIM:301120", source="https://orcid.org/0000-0002-4142-7153"} ! hereditary neoplastic syndrome [Term] id: MONDO:0971171 name: muscular dystrophy, limb-girdle, autosomal recessive 29 +subset: inferred_rare +subset: rare xref: OMIM:620793 {source="MONDO:equivalentTo"} is_a: MONDO:0015152 {source="OMIM:620793", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal recessive limb-girdle muscular dystrophy @@ -561095,18 +559920,24 @@ is_a: MONDO:0003847 {source="OMIM:620880", source="https://orcid.org/0000-0002-4 [Term] id: MONDO:0971174 name: multiple mitochondrial dysfunctions syndrome 9b +subset: inferred_rare +subset: rare xref: OMIM:620887 {source="MONDO:equivalentTo"} is_a: MONDO:0017338 {source="OMIM:620887", source="https://orcid.org/0000-0002-4142-7153"} ! fatal multiple mitochondrial dysfunctions syndrome [Term] id: MONDO:0971175 name: cardiomyopathy, dilated, 2K +subset: inferred_rare +subset: rare xref: OMIM:620894 {source="MONDO:equivalentTo"} is_a: MONDO:0016333 {source="OMIM:620894", source="https://orcid.org/0000-0002-4142-7153"} ! familial dilated cardiomyopathy [Term] id: MONDO:0971176 name: ovarian dysgenesis 11 +subset: inferred_rare +subset: rare xref: OMIM:620897 {source="MONDO:equivalentTo"} is_a: MONDO:0009299 {source="OMIM:620897", source="https://orcid.org/0000-0002-4142-7153"} ! 46 XX gonadal dysgenesis @@ -561119,6 +559950,8 @@ is_a: MONDO:0021094 {source="OMIM:620901", source="https://orcid.org/0000-0002-4 [Term] id: MONDO:0971178 name: polycystic kidney disease 8 +subset: inferred_rare +subset: rare xref: OMIM:620903 {source="MONDO:equivalentTo"} is_a: MONDO:0004691 {source="OMIM:620903", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant polycystic kidney disease is_a: MONDO:0020642 {source="OMIM:620903", source="https://orcid.org/0000-0002-4142-7153"} ! polycystic kidney disease @@ -584012,9 +582845,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1030004 name: Mollaret’s meningitis def: "A rare clinical disorder characterized by at least three recurrent episodes of meningitis associated with spontaneous recovery with or without antiviral therapy. Herpes simplex virus type 2 has frequently been implicated in the setting of this illness. RBLM is rare with prevalence rates estimated at 2 per 100,000 persons." [https://orcid.org/0000-0001-9310-0163, PMID:36304598] +subset: inferred_rare +subset: rare synonym: "RBLM" EXACT ABBREVIATION [PMID:36304598] synonym: "recurrent benign lymphocytic meningitis" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36304598, PMID:37284381] -xref: GARD:10868 {source="https://orcid.org/0000-0001-9310-0163", source="MONDO:equivalentTo"} is_a: MONDO:0007015 {source="PMID:36304598"} ! viral meningitis property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7737" xsd:anyURI @@ -584077,6 +582911,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1040012 name: PI4KA-related disorder def: "Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria." [https://www.clinicalgenome.org/affiliation/40020/, PMID:35951779] +subset: inferred_rare +subset: rare is_a: MONDO:0015150 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! complex hereditary spastic paraplegia is_a: MONDO:0020340 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! bilateral perisylvian polymicrogyria is_a: MONDO:0030831 {source="PMID:35951779", source="https://www.clinicalgenome.org/affiliation/40020/"} ! gastrointestinal defect and immunodeficiency syndrome @@ -584142,6 +582978,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1040021 name: congenital myasthenic syndrome 4 def: "Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene." [https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-0002-9698-992X] +subset: inferred_rare +subset: rare is_a: MONDO:0020344 {source="https://orcid.org/0000-0002-9698-992X"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1966 ! CHRNE @@ -584192,6 +583030,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1040029 name: Sharpin-related autoinflammatory syndrome def: "An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene." [https://orcid.org/0000-0002-0146-1162, MONDO:patterns/disease_series_by_gene, PMID:38609546] +subset: inferred_rare +subset: rare synonym: "sharpenia" EXACT [https://orcid.org/0000-0002-0146-1162, PMID:38609546] is_a: MONDO:0019751 {source="PMID:38609546", source="https://orcid.org/0000-0002-0146-1162"} ! autoinflammatory syndrome intersection_of: MONDO:0019751 ! autoinflammatory syndrome @@ -584231,9 +583071,10 @@ id: MONDO:1040032 name: EN1-related dorsoventral syndrome def: "A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures." [Orphanet:611223] subset: ordo_disorder {source="Orphanet:611223"} +subset: orphanet_rare {source="Orphanet:611223"} +subset: rare synonym: "ENDOVE syndrome" EXACT [Orphanet:611223] synonym: "ENDOVES" EXACT [Orphanet:611223] -xref: GARD:18027 {source="MONDO:equivalentTo"} xref: MEDGEN:1843345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:611223 {source="MONDO:equivalentTo"} xref: UMLS:C5680225 {source="MEDGEN:1843345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -584245,10 +583086,11 @@ id: MONDO:1040033 name: congenital muscular dystrophy without intellectual disability def: "A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed." [Orphanet:370980] subset: ordo_disorder {source="Orphanet:370980"} +subset: orphanet_rare {source="Orphanet:370980"} +subset: rare synonym: "CMD without intellectual disability" EXACT [Orphanet:370980] synonym: "CMD-no MR" EXACT [Orphanet:370980] synonym: "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" EXACT [Orphanet:370980] -xref: GARD:17607 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.2 {source="Orphanet:370980", source="Orphanet:370980/attributed", source="Orphanet:370980/ntbt"} xref: MEDGEN:1681503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:370980 {source="MONDO:equivalentTo"} diff --git a/src/ontology/mondo.Makefile b/src/ontology/mondo.Makefile index 72a25ec64d..03da4168e8 100644 --- a/src/ontology/mondo.Makefile +++ b/src/ontology/mondo.Makefile @@ -266,79 +266,197 @@ $(TEMPLATES_DIR)/ROBOT_addMedGen_fromConflictResolution.tsv: tmp/July2023_CUIRep $(TEMPLATES_DIR)/ROBOT_addMedGen_fromIngest.tsv: wget "https://github.com/monarch-initiative/medgen/releases/latest/download/medgen-xrefs.robot.template.tsv" -O $@ + ###################################################### -##### Mondo External Content Pipeline ################ +##### Mondo Ingest Update Pipelines ################## ###################################################### +# 1. Rare disease pipeline +# 2. Externally managed content pipeline + # CHANGE THIS TO THE MAIN BRANCH BEFOR MERGING!!! -MONDO_INGEST_LOCATION=https://raw.githubusercontent.com/monarch-initiative/mondo-ingest/externalclingenmedgenefo/src/ontology/external +MONDO_INGEST_EXTERNAL_LOCATION=https://raw.githubusercontent.com/monarch-initiative/mondo-ingest/externalclingenmedgenefo/src/ontology/external + +DOWNLOAD_EXTERNAL=true + +# All the content for this pipeline is pulled from the mondo-ingest repo + +tmp/external/processed-%.robot.owl: + mkdir -p tmp/external + if [ $(DOWNLOAD_EXTERNAL) = true ]; then wget "$(MONDO_INGEST_EXTERNAL_LOCATION)/processed-$*.robot.owl" -O $@; fi + +update-rare-disease-subset: + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-before.tsv + $(MAKE) update-orphanet-rare -B + $(MAKE) update-gard -B + $(MAKE) update-nord -B + $(MAKE) update-inferred-subset -B + $(MAKE) update-rare-subset -B + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-after.tsv + @echo "Subset metrics before..." + cat $(TMPDIR)/subset-metrics-before.tsv + @echo "Subset metrics after..." + cat $(TMPDIR)/subset-metrics-after.tsv + +# This is the main pipeline to update all external content +update-external-content: + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-before.tsv + $(MAKE) update-efo-subset -B + $(MAKE) update-clingen -B + $(MAKE) update-ordo-subsets -B + $(MAKE) update-nando -B + $(MAKE) update-medgen -B + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-after.tsv + @echo "Subset metrics before..." + cat $(TMPDIR)/subset-metrics-before.tsv + @echo "Subset metrics after..." + cat $(TMPDIR)/subset-metrics-after.tsv + +# This is the main pipeline to update all external content +update-external-content-incl-rare: + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-before.tsv + $(MAKE) update-efo-subset -B + $(MAKE) update-clingen -B + $(MAKE) update-ordo-subsets -B + $(MAKE) update-nando -B + $(MAKE) update-medgen -B + $(MAKE) update-orphanet-rare -B + $(MAKE) update-gard -B + $(MAKE) update-nord -B + $(MAKE) update-inferred-subset -B + $(MAKE) update-rare-subset -B + $(MAKE) subset-metrics -B && cp $(TMPDIR)/subset-metrics.tsv $(TMPDIR)/subset-metrics-after.tsv + @echo "Subset metrics before..." + cat $(TMPDIR)/subset-metrics-before.tsv + @echo "Subset metrics after..." + cat $(TMPDIR)/subset-metrics-after.tsv + +###################################################### +##### Mondo Rare Disease Pipeline #################### +###################################################### + +##### Orphanet Rare ################ + +$(TMPDIR)/orphanet-rare-subset.owl: $(SRC) + $(ROBOT) merge -i $(SRC) reason \ + query --format ttl --query ../sparql/construct/construct-orphanet-rare-subset.sparql $@ + +.PHONY: update-orphanet-rare +update-orphanet-rare: + $(MAKE) $(TMPDIR)/orphanet-rare-subset.owl + grep -vE '^(subset: orphanet_rare)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/orphanet-rare-subset.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) + +##### GARD ######################### + +# The complex part here is that we need to dynamically update the MONDO source code, i.e. +# MONDO:equivalentTo and MONDO:obsoleteEquivalentTo. + +.PHONY: update-gard +update-gard: + $(MAKE) $(TMPDIR)/external/processed-gard.robot.owl + grep -vE '^(xref: GARD:|subset: gard_rare)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-gard.robot.owl --collapse-import-closure false \ + query --update ../sparql/update/insert-gard-obsoletion-status.ru \ + convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) && make deprecated_annotation_merging && make NORM && mv NORM $(SRC) + +##### NORD ######################### + +.PHONY: update-nord +update-nord: + make $(TMPDIR)/external/processed-nord.robot.owl -B + grep -vE '^(xref: NORD:|subset: nord_rare)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-nord.robot.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) + +##### Inferred ##################### + +# The inferred subset depends on the other ones, so we need to first remove the old subsets +# Then add the gard, nord and orphanet subsets back in +$(TMPDIR)/inferred-rare-subset.owl: $(SRC) + $(ROBOT) merge -i $(SRC) \ + reason \ + query --format ttl --query ../sparql/construct/construct-inferred-rare-subset.sparql $@ + +update-inferred-subset: + $(MAKE) $(TMPDIR)/inferred-rare-subset.owl + grep -vE '^(subset: inferred_rare)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/inferred-rare-subset.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) + +##### RARE ######################### + +tmp/rare-subset.owl: $(SRC) + $(ROBOT) merge -i $(SRC) \ + query --format ttl --query ../sparql/construct/construct-rare-subset.sparql $@ + +.PHONY: update-rare-subset +update-rare-subset: + $(MAKE) $(TMPDIR)/rare-subset.owl + grep -vE '^(subset: rare)$$' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/rare-subset.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) + + +###################################################### +##### Mondo External Content Pipeline ################ +###################################################### #################################### ##### Orphanet ##################### #################################### -tmp/ordo-subsets.robot.owl: - wget "$(MONDO_INGEST_LOCATION)/processed-ordo-subsets.robot.owl" -O $@ - .PHONY: update-ordo-subsets update-ordo-subsets: - $(MAKE) tmp/ordo-subsets.robot.owl -B - grep -vE '^(subset: ordo_group_of_disorders)' $(SRC) | grep -vE '^(subset: ordo_disorder)' | grep -vE '^(subset: ordo_subtype_of_a_disorder)' > tmp/mondo-edit.tmp || true - mv tmp/mondo-edit.tmp $(SRC) - $(ROBOT) merge -i $(SRC) -i tmp/ordo-subsets.robot.owl --collapse-import-closure false convert -f obo --check false -o tmp/mondo-edit.tmp - mv tmp/mondo-edit.tmp $(SRC) && make NORM && mv NORM $(SRC) + $(MAKE) $(TMPDIR)/external/processed-ordo-subsets.robot.owl -B + grep -vE '^(subset: ordo_group_of_disorders)' $(SRC) | grep -vE '^(subset: ordo_disorder)' | grep -vE '^(subset: ordo_subtype_of_a_disorder)' > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp $(SRC) + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-ordo-subsets.robot.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) #################################### ##### NANDO ######################### #################################### -tmp/nando.template.owl: - wget $(MONDO_INGEST_LOCATION)/processed-nando-mappings.robot.owl -O $@ - .PHONY: update-nando update-nando: - $(MAKE) tmp/nando.template.owl -B - grep -vE '^(xref: NANDO:)' $(SRC) > tmp/mondo-edit.tmp || true - mv tmp/mondo-edit.tmp $(SRC) - $(ROBOT) merge -i $(SRC) -i tmp/nando.template.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + $(MAKE) $(TMPDIR)/external/processed-nando-mappings.robot.owl -B + grep -vE '^(xref: NANDO:)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp $(SRC) + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-nando-mappings.robot.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) #################################### ##### CLINGEN ###################### #################################### -tmp/clingen.template.owl: - wget "$(MONDO_INGEST_LOCATION)/processed-mondo-clingen.robot.owl" -O $@ - .PHONY: update-clingen update-clingen: - $(MAKE) tmp/clingen.template.owl - grep -vE '^(relationship: curated_content_resource https://search.clinicalgenome.org|subset: clingen)' $(SRC) > tmp/mondo-edit.tmp + $(MAKE) $(TMPDIR)/external/processed-mondo-clingen.robot.owl + grep -vE '^(relationship: curated_content_resource https://search.clinicalgenome.org|subset: clingen)' $(SRC) > $(TMPDIR)/mondo-edit.tmp #CAREFUL, this needs to be uncommented when we just to include CLINGEN LABELs - #sed -i 's/EXACT CLINGEN_LABEL/EXACT/g' tmp/mondo-edit.tmp || true - mv tmp/mondo-edit.tmp $(SRC) - $(ROBOT) merge -i $(SRC) -i tmp/clingen.template.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo + #sed -i 's/EXACT CLINGEN_LABEL/EXACT/g' $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp $(SRC) + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-mondo-clingen.robot.owl --collapse-import-closure false convert -f obo --check false -o $(SRC).obo mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) #################################### ##### EFO ########################## #################################### -tmp/mondo-efo.template.owl: - wget "$(MONDO_INGEST_LOCATION)/processed-mondo-efo.robot.owl" -O $@ - -tmp/mondo-otar-subset.template.owl: - wget "$(MONDO_INGEST_LOCATION)/processed-mondo-otar-subset.robot.owl" -O $@ - -tmp/efo-proxy-merges.template.owl: - wget "$(MONDO_INGEST_LOCATION)/efo-proxy-merges.robot.owl" -O $@ - .PHONY: update-efo-subset update-efo-subset: - $(MAKE) tmp/mondo-otar-subset.template.owl tmp/mondo-efo.template.owl tmp/efo-proxy-merges.template.owl + $(MAKE) $(TMPDIR)/external/processed-mondo-otar-subset.robot.owl $(TMPDIR)/external/processed-mondo-efo.robot.owl $(TMPDIR)/external/processed-efo-proxy-merges.robot.owl grep -vE '^(xref: EFO:|subset: otar)' $(SRC) > tmp/mondo-edit.tmp || true - mv tmp/mondo-edit.tmp mondo-edit.obo - $(ROBOT) merge -i $(SRC) -i tmp/mondo-otar-subset.template.owl -i tmp/mondo-efo.template.owl -i tmp/efo-proxy-merges.template.owl --collapse-import-closure false \ + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-mondo-otar-subset.robot.owl -i $(TMPDIR)/external/processed-mondo-efo.robot.owl -i $(TMPDIR)/external/processed-efo-proxy-merges.robot.owl --collapse-import-closure false \ query --use-graphs false --update ../sparql/update/update-equivalent-obsolete.ru \ convert -f obo --check false -o $(SRC).obo mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) @@ -347,42 +465,20 @@ update-efo-subset: ##### MedGen ####################### #################################### -# CHANGE THIS TO THE MAIN BRANCH BEFOR MERGING!!! - -tmp/mondo-medgen.template.owl: - wget "$(MONDO_INGEST_LOCATION)/processed-mondo-medgen.robot.owl" -O $@ - .PHONY: update-medgen update-medgen: - $(MAKE) tmp/mondo-medgen.template.owl - grep -vE '^(xref: UMLS:|xref: MEDGEN:|subset: medgen)' $(SRC) > tmp/mondo-edit.tmp || true - mv tmp/mondo-edit.tmp mondo-edit.obo - $(ROBOT) merge -i $(SRC) -i tmp/mondo-medgen.template.owl --collapse-import-closure false \ + $(MAKE) $(TMPDIR)/external/processed-mondo-medgen.robot.owl + grep -vE '^(xref: UMLS:|xref: MEDGEN:|subset: medgen)' $(SRC) > $(TMPDIR)/mondo-edit.tmp || true + mv $(TMPDIR)/mondo-edit.tmp mondo-edit.obo + $(ROBOT) merge -i $(SRC) -i $(TMPDIR)/external/processed-mondo-medgen.robot.owl --collapse-import-closure false \ query --use-graphs false --update ../sparql/update/update-equivalent-obsolete.ru \ convert -f obo --check false -o $(SRC).obo mv $(SRC).obo $(SRC) && make NORM && mv NORM $(SRC) -########################################## -###### Update all external content ####### -########################################## - -# This is the main pipeline to update all external content -update-external-content: - $(MAKE) subset-metrics -B && cp tmp/subset-metrics.tsv tmp/subset-metrics-before.tsv - $(MAKE) update-efo-subset -B - $(MAKE) update-clingen -B - $(MAKE) update-ordo-subsets -B - $(MAKE) update-nando -B - $(MAKE) update-medgen -B - $(MAKE) subset-metrics -B && cp tmp/subset-metrics.tsv tmp/subset-metrics-after.tsv - @echo "Subset metrics before..." - cat tmp/subset-metrics-before.tsv - @echo "Subset metrics after..." - cat tmp/subset-metrics-after.tsv .PHONY: subset-metrics subset-metrics: - $(ROBOT) query -f tsv -i $(SRC) --query $(SPARQLDIR)/reports/count-subsets.sparql tmp/$@.tsv + $(ROBOT) query -f tsv -i $(SRC) --query $(SPARQLDIR)/reports/count-subsets.sparql $(TMPDIR)/$@.tsv ############################################# diff --git a/src/sparql/construct/construct-orphanet-rare-subset.sparql b/src/sparql/construct/construct-orphanet-rare-subset.sparql index 245566bb85..62379c8664 100644 --- a/src/sparql/construct/construct-orphanet-rare-subset.sparql +++ b/src/sparql/construct/construct-orphanet-rare-subset.sparql @@ -5,11 +5,16 @@ prefix oio: prefix def: prefix owl: PREFIX xsd: - -#classes with the axiom "'bearer of' some rare" AND/OR "has subset :‘gard_rare’" AND limited to disease branch (ie not including the disease susceptibility branch +prefix rdf: +prefix oboInOwl: CONSTRUCT { ?cls . + [] rdf:type owl:Axiom ; + owl:annotatedSource ?cls ; + owl:annotatedProperty ; + owl:annotatedTarget ; + oboInOwl:source ?xref . } WHERE @@ -17,22 +22,27 @@ WHERE ?cls a owl:Class . { + # Match the XREF and the fact this term belongs to the ordo_disorder subset ?cls ?xref . + + # Only ordo_disorder is included as per request by Orphanet: these are the diseases they truly consider rare + ?cls . + # For safety reasons, we only consider the case that the evidence of the subset corresponds exactly to the xref + # This is probably redundant, but it is possible that a class has two ORDO xrefs, one exact, one not + # and we only want to record the exact xref as evidence for the rare subset ?a ?cls . - ?a . - ?a ?xref . - ?a ?source . + ?a . + ?a . + ?a ?xref . } - - FILTER (?cls NOT IN (MONDO:0000001)) - FILTER (?source="MONDO:equivalentTo") - FILTER (strStarts(?xref,"Orphanet:")) FILTER NOT EXISTS { ?cls owl:deprecated "true"^^xsd:boolean } FILTER( !isBlank(?cls) && STRSTARTS(str(?cls), "http://purl.obolibrary.org/obo/MONDO_")) + FILTER( STR(?xref) != "Orphanet:377788") + # See https://github.com/monarch-initiative/mondo/issues/7704, some specific mappings should be excluded } \ No newline at end of file diff --git a/src/sparql/construct/construct-rare-subset.sparql b/src/sparql/construct/construct-rare-subset.sparql index fb14ef4635..262df93c4b 100644 --- a/src/sparql/construct/construct-rare-subset.sparql +++ b/src/sparql/construct/construct-rare-subset.sparql @@ -5,7 +5,7 @@ prefix def: prefix owl: PREFIX xsd: -INSERT { +CONSTRUCT { ?cls . } diff --git a/src/sparql/qc/mondo/qc-animal-disease-rare.sparql b/src/sparql/qc/mondo/qc-animal-disease-rare.sparql index d5a8e9da6d..6cbae1c8a8 100644 --- a/src/sparql/qc/mondo/qc-animal-disease-rare.sparql +++ b/src/sparql/qc/mondo/qc-animal-disease-rare.sparql @@ -11,15 +11,27 @@ prefix mondo: SELECT DISTINCT ?entity ?property ?value WHERE { - VALUES ?property { } - ?entity ?property . + VALUES ?value { + + + + + + + } + VALUES ?property { + + } + ?entity ?property ?value . ?entity rdfs:subClassOf* - FILTER NOT EXISTS { + + FILTER NOT EXISTS { ?entity owl:deprecated "true"^^xsd:boolean } - FILTER NOT EXISTS { - ?entity mondo:excluded_from_qc_check mondoSparqlQcMondo:qc-animal-disease-rare.sparql . - } + + FILTER NOT EXISTS { + ?entity mondo:excluded_from_qc_check mondoSparqlQcMondo:qc-animal-disease-rare.sparql . + } + FILTER( !isBlank(?entity) && STRSTARTS(str(?entity), "http://purl.obolibrary.org/obo/MONDO_")) - BIND("Animal disease in Rare subset" as ?value) } diff --git a/src/sparql/reports/excluded-synonyms.sparql b/src/sparql/reports/excluded-synonyms.sparql new file mode 100644 index 0000000000..4f6a6ddb38 --- /dev/null +++ b/src/sparql/reports/excluded-synonyms.sparql @@ -0,0 +1,13 @@ +PREFIX owl: +PREFIX oboInOwl: +PREFIX rdf: + +SELECT ?mondo_id ?property ?synonym WHERE { + ?axiom rdf:type owl:Axiom . + ?axiom owl:annotatedSource ?mondo_id . + ?axiom owl:annotatedProperty ?property . + ?axiom owl:annotatedTarget ?synonym . + ?axiom oboInOwl:hasSynonymType . + + FILTER(STRSTARTS(STR(?mondo_id), "http://purl.obolibrary.org/obo/MONDO_")) +} diff --git a/src/sparql/update/insert-gard-obsoletion-status.ru b/src/sparql/update/insert-gard-obsoletion-status.ru new file mode 100644 index 0000000000..7d2cdc5cbe --- /dev/null +++ b/src/sparql/update/insert-gard-obsoletion-status.ru @@ -0,0 +1,21 @@ +PREFIX rdf: +prefix owl: +prefix oboInOwl: +prefix rdfs: + +INSERT { + ?entity a owl:Class . + [] a owl:Axiom ; + owl:annotatedSource ?entity ; + owl:annotatedProperty oboInOwl:hasDbXref ; + owl:annotatedTarget ?xref ; + oboInOwl:source ?source . +} +WHERE { + ?entity oboInOwl:hasDbXref ?xref . + ?entity owl:deprecated ?deprecated . + + FILTER (STRSTARTS(str(?xref),"GARD:")) + FILTER (isIRI(?entity) && STRSTARTS(str(?entity), "http://purl.obolibrary.org/obo/MONDO_")) + BIND(IF(?deprecated=true,"MONDO:obsoleteEquivalent","MONDO:equivalentTo") as ?source) +} \ No newline at end of file