Search Ontology:
Human Disease

foveal hypoplasia 2

Term ID
DOID:0070531
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
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. (3)
References
  • MIM:609218
  • ORDO:397618
  • SNOMEDCT_US_2023_03_01:782754006
  • UMLS_CUI:C5190596
Ontology
Human Disease   ( DOID:0070531 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models