Metadata | |
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ID | 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 | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a syndrome |