Search Ontology:
Human Disease
foveal hypoplasia 2
- Term ID
- DOID:0070531
- Synonyms
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- 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
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- MIM:609218
- ORDO:397618
- SNOMEDCT_US_2023_03_01:782754006
- UMLS_CUI:C5190596
- Ontology
- Human Disease ( DOID:0070531 )
- is a type of
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Genes Involved
Zebrafish Models