DO_rare_slim has material basis in autosomal recessive disease foveal hypoplasia 2 SNOMEDCT_US_2025_09_01:782754006 UMLS_CUI:C5190596 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. MIM:609218 MIM:609218 UMLS_CUI:C5190596 SNOMEDCT_US_2023_03_01:782754006 ORDO:397618 DOID:0070531 disease_ontology FHONDA FHONDA syndrome FHONDA syndrome refers to a subset of FVH2 with both optic nerve decussation defects and anterior segment dysgenesis. These characteristics are not sufficient for distinction from FVH2 at this time [JAB, 2024-01-23]. FVH2 ORDO:397618 foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis retinal disease autosomal recessive inheritance