diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9eea93ae20..913aedc2e8 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -9126,15 +9126,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12893/combin [Term] id: MONDO:0000733 name: cornea plana +def: "A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies." [Orphanet:53691] +synonym: "congenital cornea plana" EXACT [Orphanet:53691] synonym: "flat cornea" EXACT [DOID:0060287] xref: DOID:0060287 {source="MONDO:equivalentTo"} xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"} -xref: ICD10CM:Q13.4 {source="DOID:0060287"} +xref: ICD10CM:Q13.4 {source="DOID:0060287", source="MONDO:equivalentTo", source="Orphanet:53691"} xref: OMIMPS:121400 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} -xref: Orphanet:53691 {source="DOID:0060287"} +xref: Orphanet:53691 {source="DOID:0060287", source="MONDO:equivalentTo"} xref: SCTID:204145006 {source="MONDO:equivalentTo"} is_a: MONDO:0000942 {source="DOID:0060287"} ! corneal disorder relationship: has_characteristic MONDO:0021152 {source="OMIMPS:121400"} ! inherited +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7573" xsd:anyURI [Term] id: MONDO:0000734 @@ -401580,14 +401583,14 @@ name: obsolete congenital cornea plana subset: gard_rare {source="GARD:16657"} subset: nord_rare {source="MONDO:NORD"} xref: GARD:16657 {source="MONDO:obsoleteEquivalent", source="Orphanet:53691"} -xref: ICD10CM:Q13.4 {source="Orphanet:53691/attributed", source="Orphanet:53691/ntbt", source="Orphanet:53691"} -xref: Orphanet:53691 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6744" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7573" xsd:anyURI is_obsolete: true +replaced_by: MONDO:0000733 [Term] id: MONDO:0018889