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- MONDO_0034981 IAO_0000115 "OBSOLETE. A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disk. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disk, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life. [Orphanet:519404]" @default.
- MONDO_0034981 IAO_0000231 OMO_0001000 @default.
- MONDO_0034981 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/4776" @default.
- MONDO_0034981 normalizedInformationContent "100" @default.
- MONDO_0034981 referenceCount "1" @default.
- MONDO_0034981 hasDbXref "GARD:22130" @default.
- MONDO_0034981 hasDbXref "ICD10CM:Q14.2" @default.
- MONDO_0034981 hasDbXref "Orphanet:519404" @default.
- MONDO_0034981 id "MONDO:0034981" @default.
- MONDO_0034981 inSubset gard_rare @default.
- MONDO_0034981 inSubset nord_rare @default.
- MONDO_0034981 inSubset rare @default.
- MONDO_0034981 type Class @default.
- MONDO_0034981 isDefinedBy mondo.owl @default.
- MONDO_0034981 label "obsolete optic disk pit" @default.
- MONDO_0034981 subClassOf MONDO_0034981 @default.
- MONDO_0034981 subClassOf Thing @default.
- MONDO_0034981 deprecated "true" @default.
- MONDO_0034981 broadMatch Q14.2 @default.
- MONDO_0034981 exactMatch Orphanet_519404 @default.