Foveal Hypoplasia 2
Disease ID: disease_node_20572
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:609218, ORDO:397618, SNOMEDCT_US_2023_03_01:782754006, UMLS_CUI:C5190596 |
|---|---|
| Subclassof | DOID_5679, DOID_0050737 |
| Data Source | DOID |
| Synonyms | FVH2, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, FHONDA, FHONDA syndrome, foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis |
| Doid Label | foveal hypoplasia 2 |
| Doid Description | 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. 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]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20572 |
| Doid Id | DOID_0070531 |
| Label | Foveal Hypoplasia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Retinal Diseases(ID:disease_node_6605) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)