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add new term: OPTN-related open angle glaucoma (#7473)
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* add new term: OPTN-related open angle glaucoma

close #6781

* add syn

* remove xrefs

* add back xrefs except OMIM

* added tracker + removed synonyms

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Co-authored-by: Sabrina Toro <sabrina@tislab.org>
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nicolevasilevsky and sabrinatoro committed Mar 25, 2024
1 parent 7b10d14 commit 36cfc0d
Showing 1 changed file with 14 additions and 3 deletions.
17 changes: 14 additions & 3 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -147085,15 +147085,12 @@ id: MONDO:0007665
name: obsolete glaucoma 1, open angle, E
def: "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." [NCIT:C35394]
synonym: "chronic simple glaucoma" EXACT [DOID:1070]
synonym: "glaucoma 1, open angle, E" EXACT [OMIM:137760]
synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:137760]
xref: DOID:1070 {source="MONDO:obsoleteEquivalent"}
xref: ICD10CM:H40.1
xref: ICD10CM:H40.11 {source="DOID:1070"}
xref: ICD9:365.11 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1070"}
xref: MESH:C562750 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: NCIT:C35394 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: OMIM:137760 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: SCTID:155122001 {source="DOID:1070"}
xref: SCTID:77075001 {source="MONDO:obsoleteEquivalent", source="DOID:1070"}
xref: UMLS:C0339573 {source="OMIM:137760", source="NCIT:C35394", source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoundInDiseaseSubset", source="DOID:1070"}
Expand All @@ -147103,6 +147100,7 @@ property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2507" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4936" xsd:anyURI
is_obsolete: true
replaced_by: MONDO:0100553

[Term]
id: MONDO:0007666
Expand Down Expand Up @@ -514464,6 +514462,19 @@ is_a: MONDO:0007100 {source="Orphanet:85447"} ! familial amyloid neuropathy
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7330" xsd:anyURI

[Term]
id: MONDO:0100553
name: OPTN-related open angle glaucoma
def: "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." [https://clinicalgenome.org/affiliation/40077/]
synonym: "glaucoma 1, open angle, E" EXACT [OMIM:137760]
synonym: "OPTN-related open angle glaucoma" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/]
xref: OMIM:137760 {source="MONDO:equivalentTo"}
is_a: MONDO:0005338 {source="https://clinicalgenome.org/affiliation/40077/"} ! open-angle glaucoma
intersection_of: MONDO:0005338 ! open-angle glaucoma
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17142 ! OPTN
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6781" xsd:anyURI

[Term]
id: MONDO:0200000
name: uterine ligament adenosarcoma
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