From ac3e10d38ce5b0266978f94c859e462ff8885899 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Thu, 3 Feb 2022 11:26:40 -0800 Subject: [PATCH] revise syn for congenital hereditary endothelial dystrophy of cornea close #1368 --- src/ontology/mondo-edit.obo | 9 +++++---- 1 file changed, 5 insertions(+), 4 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 0b0e73d19a..24f51a05a6 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -131202,7 +131202,7 @@ synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical, synonym: "corneal dystrophy, posterior polymorphous, type 1" EXACT [MONDORULE:1, OMIM:122000] synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [DOID:0110855, OMIM:122000] synonym: "corneal endothelial dystrophy 1, autosomal dominant, formerly" RELATED [OMIM:122000] -synonym: "Maumenee corneal dystrophy" EXACT EXCLUDE [DOID:0110855] +synonym: "Maumenee corneal dystrophy" EXACT [DOID:0110855, https://orcid.org/0000-0002-0736-9199] synonym: "posterior polymorphous corneal dystrophy" RELATED [OMIM:122000] synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [DOID:0110855, MONDORULE:1] synonym: "PPCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122000] @@ -131217,9 +131217,9 @@ xref: UMLS:C0339284 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:122000 xref: UMLS:CN029625 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020364 {source="DC-OMIM:122000", source="DOID:0110855", source="MONDO:Redundant", source="MONDOLEX:0007378", source="OMIM:122000"} ! posterior polymorphous corneal dystrophy intersection_of: MONDO:0020364 ! posterior polymorphous corneal dystrophy -intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12723 ! VSX1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15804 ! OVOL2 property_value: confidence "1.4132500127013152" xsd:double +property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1368 xsd:string [Term] id: MONDO:0007379 @@ -167015,7 +167015,7 @@ is_a: MONDO:0020214 {source="Orphanet:98972"} ! posterior corneal dystrophy [Term] id: MONDO:0009019 name: congenital hereditary endothelial dystrophy of cornea -def: "Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [Orphanet:293603] +def: "A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." [https://orcid.org/0000-0001-5208-3432, Orphanet:293603] subset: gard_rare subset: ordo_disease {source="Orphanet:293603"} synonym: "autosomal recessive CHED" EXACT [Orphanet:293603] @@ -167035,7 +167035,7 @@ synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:L synonym: "corneal endothelial dystrophy 2, autosomal recessive, formerly" RELATED [MESH:C536439] synonym: "corneal endothelial dystrophy type 2" RELATED [GARD:0006196] synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603] -synonym: "Maumenee corneal dystrophy" EXACT [Orphanet:293603] +synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [Orphanet:293603] xref: DOID:0060649 {source="MONDO:equivalentTo"} xref: GARD:0006196 {source="MONDO:equivalentTo"} xref: ICD10:H18.5 {source="ORDO:293603/attributed", source="ORDO:293603/ntbt", source="Orphanet:293603"} @@ -167047,6 +167047,7 @@ is_a: MONDO:0000766 {source="DOID:0060649"} ! corneal endothelial dystrophy is_a: MONDO:0020214 {source="Orphanet:293603"} ! posterior corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16438 {source="mim2gene_medgen"} ! SLC4A11 property_value: confidence "2.75" xsd:double +property_value: seeAlso https://github.com/monarch-initiative/mondo/issues/1368 xsd:string property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 xsd:anyURI {source="GARD:0006196"} [Term]