OBO ID: DOID:0060482
Term Name: oculoauricular syndrome Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   (DOID:0060482)
Relationships
is a type of:
OTHER oculoauricular syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HMX1 Oculoauricular syndrome 612109
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)