Merge pull request #4419 from monarch-initiative/issue-1368

revise syn for congenital hereditary endothelial dystrophy of cornea

src/ontology/mondo-edit.obo

@@ -131198,7 +131198,7 @@ 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]
@@ -131213,9 +131213,9 @@ 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
@@ -167014,7 +167014,7 @@ 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]
@@ -167034,7 +167034,7 @@ 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"}
@@ -167046,6 +167046,7 @@ 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]