OBO ID: DOID:0080635
Term Name: optic disc anomalies with retinal and/or macular dystrophy Search Ontology:
Synonyms:
Definition: A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/24702266
References:
Ontology: Human Disease   (DOID:0080635)
OTHER optic disc anomalies with retinal and/or macular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SIX6 Optic disc anomalies with retinal and/or macular dystrophy 212550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None