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Disease Ontology Browser
foveal hypoplasia 2 (DOID:0070531)
Alliance: disease page
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
Alt IDs: OMIM:609218, ORDO:397618, UMLS_CUI:C5190596
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory