Search Ontology:
Human Disease
foveal hypoplasia 1
- Term ID
- DOID:0070530
- Synonyms
-
- foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract
- foveal hypoplasia-presenile cataract syndrome
- FVH1
- O'Donnell-Pappas syndrome
- Definition
- A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (5)
- References
- Ontology
- Human Disease ( DOID:0070530 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models