FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term foveal hypoplasia 2 ID (Ontology) DOID:0070531 (Human Disease)
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.
Also Known As "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" ; "FVH2"
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 Genes
 foveal hypoplasia 2       1
 for disease ribbon | foveal hypoplasia 2       1
 model of | foveal hypoplasia 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
eye disease                      |
 |__retinal disease______________|
                                 foveal hypoplasia 2  1 rec.
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Is a autosomal recessive disease
retinal disease
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Synonyms
  • "FHONDA" NARROW OMO:0003012
    "FHONDA syndrome" NARROW
    "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT
    "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis" NARROW
    "FVH2" EXACT OMO:0003012
Secondary IDs
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MIM:609218
ORDO:397618
SNOMEDCT_US_2023_03_01:782754006
UMLS_CUI:C5190596