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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 )
Relationships
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Genes Involved
Zebrafish Models