diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 7bbc46812..6c9a92ac4 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -1395,8 +1395,6 @@ subset: ordo_malformation_syndrome {source="Orphanet:1052"} subset: orphanet_rare {source="Orphanet:1052"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mosaic variegated aneuploidy syndrome 1" EXACT [NCIT:C128192] -synonym: "MVA1" EXACT ABBREVIATION [NCIT:C128192] synonym: "Warburton-Anyane-Yeboa syndrome" EXACT [Orphanet:1052] xref: DOID:0080688 {source="MONDO:equivalentTo"} xref: GARD:3007 {source="MONDO:GARD"} @@ -1405,7 +1403,6 @@ xref: icd11.foundation:398235351 {source="MONDO:equivalentTo"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1641418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536987 {source="Orphanet:1052/e", source="MONDO:equivalentTo", source="Orphanet:1052"} -xref: NCIT:C128192 {source="MONDO:equivalentTo"} xref: OMIMPS:257300 {source="MONDO:equivalentTo"} xref: Orphanet:1052 {source="MONDO:equivalentTo", source="OMIM:257300"} xref: SCTID:700056005 {source="MONDO:equivalentTo"} @@ -25553,6 +25550,7 @@ synonym: "malignant tumour of the lacrimal duct" EXACT OMO:0003005 [] xref: DOID:12756 {source="MONDO:equivalentTo"} xref: ICD9:190.7 {source="DOID:12756", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:57795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C175319 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3567 {source="DOID:12756", source="MONDO:equivalentTo"} xref: SCTID:188274004 {source="DOID:12756", source="MONDO:equivalentTo"} xref: SCTID:188275003 {source="DOID:12756"} @@ -75186,6 +75184,7 @@ synonym: "intramuscular lipoma" EXACT [DOID:7014] synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [] xref: DOID:7014 {source="MONDO:equivalentTo"} xref: MEDGEN:90788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C7450 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C7450 {source="DOID:7014"} xref: NCIT:C7451 {source="MONDO:equivalentTo", source="DOID:7014"} xref: SCTID:24045002 {source="DOID:7014"} @@ -77059,6 +77058,7 @@ xref: ICD9:223.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:223.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:146348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014571 {source="DOID:731", source="MONDO:equivalentTo"} +xref: NCIT:C192667 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3431 {source="DOID:731"} xref: NCIT:C4893 {source="MONDO:equivalentTo"} xref: SCTID:126879004 {source="DOID:731"} @@ -83496,6 +83496,7 @@ synonym: "uterine corpus soft tissue neoplasm" EXACT [] xref: DOID:8302 {source="MONDO:equivalentTo"} xref: MEDGEN:269077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40178 {source="DOID:8302", source="MONDO:equivalentTo"} +xref: NCIT:C40179 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: UMLS:C1513364 {source="MEDGEN:269077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0006424 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! soft tissue neoplasm is_a: MONDO:0021254 {source="MONDO:Redundant", source="NCIT:C40178/inferred", source="NCIT:C40179"} ! corpus uteri neoplasm @@ -88140,8 +88141,8 @@ name: submandibular gland cancer def: "A malignant neoplasm involving the submandibular gland." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of submandibular gland" EXACT [MONDO:patterns/cancer] -synonym: "carcinoma of submandibular gland" EXACT [NCIT:C8396] -synonym: "carcinoma of the submandibular gland" EXACT [NCIT:C8396] +synonym: "carcinoma of submandibular gland" NARROW [https://orcid.org/0000-0002-5002-8648, NCIT:C8396] +synonym: "carcinoma of the submandibular gland" NARROW [https://orcid.org/0000-0002-5002-8648, NCIT:C8396] synonym: "malignant neoplasm of submandibular gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173] synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer] @@ -88149,14 +88150,14 @@ synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173] synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173] synonym: "malignant tumour of submandibular gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the submandibular gland" EXACT OMO:0003005 [] -synonym: "submandibular gland cancer" EXACT [DOID:9173, MONDO:patterns/location, NCIT:C8396] -synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396] +synonym: "submandibular gland cancer" EXACT [DOID:9173, MONDO:patterns/location] +synonym: "submandibular gland carcinoma" NARROW [https://orcid.org/0000-0002-5002-8648, NCIT:C8396] xref: DOID:9173 {source="MONDO:equivalentTo"} xref: ICD10CM:C08.0 {source="DOID:9173"} xref: ICD9:142.1 {source="DOID:9173", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:57782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -xref: NCIT:C3526 {source="DOID:9173"} -xref: NCIT:C8396 {source="MONDO:equivalentTo"} +xref: NCIT:C3526 {source="https://orcid.org/0009-0001-6494-4831", source="DOID:9173", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} +xref: NCIT:C8396 {source="https://orcid.org/0000-0002-5002-8648", source="MONDO:mondoIsBroaderThanSource"} xref: SCTID:363380002 {source="DOID:9173", source="MONDO:equivalentTo"} xref: SCTID:94077005 {source="DOID:9173"} xref: UMLS:C0153360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:57782"} @@ -124784,6 +124785,7 @@ xref: ICD10CM:C64-C68 {source="https://github.com/monarch-initiative/mondo/issue xref: ICD10CM:C68.9 {source="DOID:3996"} xref: ICD9:189.9 {source="DOID:3996"} xref: MEDGEN:738719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C192668 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C9297 {source="EFO:1000363", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} xref: SCTID:190132004 {source="DOID:3996"} xref: SCTID:448233000 {source="MONDO:equivalentTo", source="DOID:3996"} @@ -127712,6 +127714,7 @@ xref: MESH:D013945 {source="DOID:3284"} xref: NANDO:2200079 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NCIT:C7569 {source="DOID:4554", source="MONDO:equivalentTo", source="EFO:1000576"} xref: NCIT:C7612 {source="DOID:3284"} +xref: NCIT:C7612 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: ONCOTREE:THYC {source="MONDO:equivalentTo"} xref: Orphanet:99868 {source="MONDO:equivalentTo"} xref: SCTID:128717008 {source="DOID:4554", source="DOID:3284"} @@ -127888,7 +127891,7 @@ xref: EFO:1000585 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:11810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D013955 {source="MONDO:equivalentTo"} -xref: NCIT:C85189 {source="MONDO:otherHierarchy", source="EFO:1000585"} +xref: NCIT:C85189 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:otherHierarchy", source="EFO:1000585", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:489 {source="MONDO:equivalentObsolete"} xref: SCTID:39462005 {source="MONDO:equivalentTo"} xref: UMLS:C0040124 {source="MEDGEN:11810", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212493,9 +212496,10 @@ synonym: "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" EXA synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1] synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1] synonym: "MVA syndrome" RELATED [] -synonym: "MVA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MVA1" RELATED ABBREVIATION [MONDO:Lexical, NCIT:C128192] xref: DOID:0080141 {source="MONDO:equivalentTo"} xref: MEDGEN:338026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C128192 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: OMIM:257300 {source="DOID:0080141", source="MONDO:equivalentTo", source="Orphanet:1052"} xref: UMLS:C1850343 {source="MEDGEN:338026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0000141 {source="DC-OMIM:257300", source="DOID:0080141", source="MONDO:Redundant", source="OMIM:257300"} ! mosaic variegated aneuploidy syndrome @@ -405928,6 +405932,7 @@ synonym: "Pure familial AML" EXACT [Orphanet:319465] xref: GARD:17450 {source="MONDO:GARD"} xref: ICD10CM:C92.0 {source="Orphanet:319465/attributed", source="Orphanet:319465/ntbt", source="Orphanet:319465"} xref: MEDGEN:1634915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C7175 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: Orphanet:319465 {source="MONDO:equivalentTo"} xref: SCTID:764940002 {source="MONDO:equivalentTo"} xref: UMLS:C4707228 {source="MEDGEN:1634915", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -416018,7 +416023,8 @@ xref: GARD:21654 {source="MONDO:GARD"} xref: ICD10CM:C56 {source="Orphanet:398987", source="Orphanet:398987/ntbt"} xref: icd11.foundation:551209361 {source="MONDO:equivalentTo", source="Orphanet:398987", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:138044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -xref: NCIT:C8111 {source="MONDO:equivalentTo", source="DOID:6331"} +xref: NCIT:C39995 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} +xref: NCIT:C8111 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648", source="MONDO:preferredExternal", source="DOID:6331"} xref: ONCOTREE:OIMT {source="MONDO:equivalentTo"} xref: Orphanet:398987 {source="MONDO:equivalentTo"} xref: SCTID:254871000 {source="MONDO:equivalentTo", source="DOID:6331"} @@ -441866,7 +441872,8 @@ xref: ICD9:209-209.99 {source="DOID:169"} xref: ICD9:239.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:64652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D018358 {source="MONDO:equivalentTo", source="DOID:169"} -xref: NCIT:C3809 {source="MONDO:equivalentTo", source="DOID:169"} +xref: NCIT:C188218 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} +xref: NCIT:C3809 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648", source="MONDO:preferredExternal", source="DOID:169"} xref: Orphanet:877 {source="MONDO:equivalentTo"} xref: SCTID:128928004 {source="DOID:169"} xref: SCTID:255046005 {source="MONDO:equivalentTo", source="DOID:169"} @@ -453766,7 +453773,6 @@ synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [] synonym: "AML with recurrent Genetic abnormalities" EXACT [] synonym: "AML with recurrent genetic anomaly" EXACT [] 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"} xref: Orphanet:98277 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -469192,7 +469198,8 @@ synonym: "urinary tract tumor" EXACT [] synonym: "urinary tract tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:52949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -xref: NCIT:C3431 {source="MONDO:equivalentTo"} +xref: NCIT:C192666 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} +xref: NCIT:C3431 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648", source="MONDO:preferredExternal"} xref: ONCOTREE:BLADDER {source="MONDO:equivalentTo"} xref: SCTID:126879004 {source="MONDO:equivalentTo"} xref: UMLS:C0042076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:52949"} @@ -547389,6 +547396,7 @@ synonym: "meningeal metastasis" EXACT [NCIT:C3814, PMID:29535794] synonym: "metastatic malignant neoplasm in the leptomeninges" EXACT [NCIT:C3814] xref: icd11.foundation:262966673 {source="MONDO:equivalentTo"} xref: MEDGEN:352817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} +xref: NCIT:C27383 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-5002-8648"} xref: NCIT:C3814 {source="MONDO:equivalentTo"} xref: UMLS:C1704231 {source="MEDGEN:352817", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0024880 {source="NCIT:C3814", source="PMID:29535794"} ! metastatic malignant neoplasm