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Metadata
DOID DOID:0060482
Name oculoauricular syndrome
Definition A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
https://www.ncbi.nlm.nih.gov/pubmed/18423520, https://www.ncbi.nlm.nih.gov/pubmed/25574057
Xrefs

ICD10CM:Q87.8

MESH:C567416

OMIM:612109

ORDO:157962

Subsets

DO_rare_slim

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is_a syndrome

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