diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index e26e8f02d4..84790c7f1e 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -89934,7 +89934,7 @@ xref: MESH:D006965 {source="MONDO:equivalentTo", source="EFO:0000536"} xref: NCIT:C3113 {source="MONDO:equivalentTo", source="EFO:0000536", source="MONDO:exact-label-match"} xref: SCTID:76197007 {source="EFO:0000536"} xref: UMLS:C0020507 {source="MONDO:notFoundInDiseaseSubset", source="NCIT:C3113"} -is_a: MONDO:0045024 {source="MONDO:Redundant", source="MONDO:cjm"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="MONDO:Redundant", source="MONDO:cjm"} ! cell proliferation disorder [Term] id: MONDO:0005044 @@ -91030,7 +91030,7 @@ xref: NCIT:C3340 {source="EFO:0000662", source="MONDO:equivalentTo", source="MON xref: SCTID:41329004 {source="EFO:0000662"} xref: SCTID:441456002 {source="EFO:0000662", source="MONDO:equivalentTo"} xref: UMLS:C0032584 {source="NCIT:C3340", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0045024 {source="https://github.com/monarch-initiative/mondo/issues/1014"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://github.com/monarch-initiative/mondo/issues/1014"} ! cell proliferation disorder relationship: excluded_subClassOf MONDO:0005070 {source="EFO:0000662"} ! neoplasm [Term] @@ -169382,7 +169382,7 @@ xref: UMLS:C1860850 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_me is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0002531 {source="https://orcid.org/0000-0001-5208-3432"} ! skin neoplasm is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -246415,7 +246415,7 @@ xref: UMLS:C1857941 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_me is_a: MONDO:0000426 {source="DOID:0050693", source="MONDO:Redundant"} ! autosomal dominant disease is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease is_a: MONDO:0015356 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary neoplastic syndrome -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cell proliferation disorder relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:79493"} ! obsolete rare skin tumor or hamartoma relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:605041", source="Orphanet:79493"} ! Autosomal dominant inheritance relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2584 {source="MONDO:mim2gene_medgen"} ! CYLD @@ -337646,7 +337646,9 @@ xref: Orphanet:140162 {source="MONDO:equivalentTo"} xref: SCTID:699346009 {source="MONDO:equivalentTo"} xref: UMLS:C0027672 {source="MONDO:equivalentTo", source="NCIT:C3266", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="MESH:D009386", source="MONDO:Redundant", source="NCIT:C3266", source="Orphanet:140162"} ! hereditary disease -is_a: MONDO:0021058 {source="NCIT:C54705", source="https://orcid.org/0000-0002-4036-287X"} ! neoplastic syndrome +is_a: MONDO:0021074 ! precancerous condition +intersection_of: MONDO:0020573 ! inherited disease susceptibility +intersection_of: predisposes_towards MONDO:0005070 ! neoplasm relationship: excluded_subClassOf MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C3266"} ! neoplastic syndrome relationship: has_characteristic MONDO:0021136 {source="MONDO:0021198"} ! rare relationship: has_characteristic MONDO:0021152 {source="https://github.com/monarch-initiative/mondo/issues/1520", source="https://orcid.org/0000-0001-5208-3432"} ! inherited @@ -342327,18 +342329,18 @@ is_a: MONDO:0020068 {source="MONDO:Entailed", source="Orphanet:163908"} ! postin id: MONDO:0015593 name: obsolete limbic encephalitis with nCMAgs antibodies comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163). -property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} -consider: MONDO:0020640 subset: ordo_disease {source="Orphanet:163914"} subset: orphanet_rare {source="Orphanet:163914"} subset: rare synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [Orphanet:163914] xref: ICD10CM:G13.1 {source="Orphanet:163914", source="Orphanet:163914/ntbt"} xref: Orphanet:163914 {source="MONDO:obsoleteEquivalentObsolete"} +property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6748" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6785" xsd:anyURI is_obsolete: true +consider: MONDO:0020640 [Term] id: MONDO:0015594 @@ -345424,7 +345426,7 @@ subset: rare xref: GARD:20130 {source="Orphanet:171895"} xref: Orphanet:171895 {source="MONDO:equivalentTo"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI @@ -345440,7 +345442,7 @@ xref: GARD:20131 {source="Orphanet:171898"} xref: Orphanet:171898 {source="MONDO:equivalentTo"} is_a: MONDO:0002334 {source="https://orcid.org/0000-0001-5208-3432"} ! hematopoietic and lymphoid system neoplasm is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-5002-8648"} ! hematologic disorder -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI @@ -346627,7 +346629,7 @@ xref: Orphanet:178528 {source="MONDO:equivalentTo"} xref: SCTID:765136002 {source="MONDO:equivalentTo"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -346646,7 +346648,7 @@ xref: ICD10CM:C84.4 {source="Orphanet:178533/ntbt", source="MONDO:relatedTo", so xref: Orphanet:178533 {source="MONDO:equivalentTo"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -365082,7 +365084,7 @@ synonym: "leptomeningeal melanomatosis" BROAD [Orphanet:252031] xref: GARD:20739 {source="Orphanet:252031"} xref: Orphanet:252031 {source="MONDO:equivalentTo"} is_a: MONDO:0016743 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! tumor of meninges -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -371000,7 +371002,7 @@ xref: Orphanet:2677 {source="MONDO:equivalentObsolete"} xref: UMLS:C0027828 {source="MONDO:notFoundInDiseaseSubset", source="Orphanet:2677", source="Orphanet:2677/e"} is_a: MONDO:0021193 {source="https://orcid.org/0000-0002-4142-7153"} ! neuroepithelial neoplasm is_a: MONDO:0021248 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous system neoplasm -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: confidence "0.012345679012345512" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI @@ -380448,7 +380450,7 @@ xref: UMLS:C1866398 {source="Orphanet:2969/e", source="MONDO:notFoundInDiseaseSu is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease is_a: MONDO:0017623 {source="NCIT:C179915", source="https://orcid.org/0000-0001-5208-3432"} ! PTEN hamartoma tumor syndrome -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cell proliferation disorder relationship: disease_shares_features_of MONDO:0008318 ! Proteus syndrome property_value: confidence "1.14975845410628" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI @@ -390206,7 +390208,7 @@ xref: SCTID:723361006 {source="MONDO:equivalentTo"} xref: UMLS:C4509837 {source="MONDO:equivalentObsolete"} is_a: MONDO:0002051 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0003-4830-7530"} ! integumentary system disorder is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163"} ! cell proliferation disorder is_a: MONDO:0100118 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary skin disorder relationship: excluded_subClassOf MONDO:0019300 {source="Orphanet:338"} ! obsolete rare skin tumor or hamartoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI @@ -392987,7 +392989,7 @@ xref: ICD10CM:C63.7 {source="Orphanet:363478", source="Orphanet:363478/btnt"} xref: ICD10CM:C63.8 {source="Orphanet:363478", source="Orphanet:363478/btnt"} xref: Orphanet:363478 {source="MONDO:equivalentTo"} is_a: MONDO:0005447 {source="https://orcid.org/0000-0001-5208-3432"} ! testicular cancer -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI [Term] @@ -420723,7 +420725,7 @@ xref: Orphanet:86885 {source="MONDO:equivalentTo"} xref: UMLS:C0079774 {source="Orphanet:86885", source="MONDO:notFoundInDiseaseSubset", source="Orphanet:86885/e"} is_a: MONDO:0005570 {source="https://orcid.org/0000-0001-9310-0163"} ! hematologic disorder is_a: MONDO:0015758 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-5002-8648"} ! primary cutaneous T-cell lymphoma -is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="https://orcid.org/0000-0001-9310-0163", source="https://orcid.org/0000-0002-1216-4761"} ! cell proliferation disorder property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6739" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6746" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI @@ -447272,6 +447274,7 @@ xref: NCIT:C3311 {source="MONDO:equivalentTo"} xref: SCTID:49783001 {source="MONDO:equivalentTo"} xref: UMLS:C0030472 {source="MONDO:equivalentTo", source="NCIT:C3311"} is_a: MONDO:0002254 {source="NCIT:C3311"} ! syndromic disease +is_a: MONDO:0045054 {source="https://orcid.org/0000-0002-4142-7153"} ! cancer-related condition [Term] id: MONDO:0021074 @@ -447285,7 +447288,7 @@ synonym: "premalignant state" EXACT [NCIT:C3341] xref: MESH:D011230 {source="MONDO:equivalentTo"} xref: NCIT:C3341 {source="MONDO:equivalentTo"} xref: UMLS:C0032927 {source="NCIT:C3341", source="MONDO:notFoundInDiseaseSubset"} -is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder [Term] id: MONDO:0021075 @@ -463412,7 +463415,7 @@ name: neoplastic disease or syndrome def: "Either an isolated neoplasm or a syndrome with neoplasm as a major feature." [MONDO:cjm] synonym: "neoplastic disease" RELATED [] synonym: "neoplastic disorder" RELATED [] -is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder union_of: MONDO:0005070 ! neoplasm union_of: MONDO:0021058 ! neoplastic syndrome @@ -502359,10 +502362,11 @@ intersection_of: has_characteristic MONDO:0021141 ! acquired [Term] id: MONDO:0045024 -name: cancer or benign tumor +name: cell proliferation disorder def: "Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions." [MONDO:cjm] subset: harrisons_view subset: rare_grouping +synonym: "cancer or benign tumor" EXACT [] synonym: "cell proliferation disorder" EXACT [https://orcid.org/0000-0002-4142-7153] synonym: "neoplasm" NARROW [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neoplasm] intersection_of: MONDO:0700096 ! human disease @@ -502652,7 +502656,7 @@ synonym: "problem/condition, cancer related" EXACT [NCIT:C8278] synonym: "problem/condition, cancer-related" EXACT [NCIT:C8278] xref: NCIT:C8278 {source="MONDO:equivalentTo"} xref: UMLS:C0280950 {source="MONDO:equivalentTo"} -is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor +is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cell proliferation disorder [Term] id: MONDO:0045055 @@ -516837,6 +516841,15 @@ intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20202 ! CACNA2D4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6562" xsd:anyURI +[Term] +id: MONDO:0700245 +name: syndromic disorder of cell proliferation +def: "A cell proliferation disorder that is part of a larger syndrome." [MONDO:patterns/syndromic] +is_a: MONDO:0045024 ! cell proliferation disorder +intersection_of: MONDO:0045024 ! cell proliferation disorder +intersection_of: has_characteristic MONDO:0021127 ! has a syndromic presentation +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 + [Term] id: MONDO:0800001 name: delayed sleep phase syndrome, susceptibility to @@ -536471,7 +536484,7 @@ name: cancer or benign tumor, non-human animal def: "Cancer or benign tumor that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] is_a: MONDO:0005583 ! non-human animal disease intersection_of: MONDO:0005583 ! non-human animal disease -intersection_of: MONDO:0700097 MONDO:0045024 ! cross-species analog cancer or benign tumor +intersection_of: MONDO:0700097 MONDO:0045024 ! cross-species analog cell proliferation disorder [Term] id: MONDO:1011306