foveal hypoplasia 2

Summary

DOID:0070531 - foveal hypoplasia 2

Disease Ontology Definition:A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen.

Synonyms: FHONDA, FHONDA syndrome, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis, FVH2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc38a8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), retinal disease (is_a)