| Metadata | |
|---|---|
| ID | DOID:0070531 |
| Name | foveal hypoplasia 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24290379/, https://pubmed.ncbi.nlm.nih.gov/24045842/, https://pubmed.ncbi.nlm.nih.gov/33498813/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:782754006 |
| SKOS |
exactMatch ORDO:397618 exactMatch MIM:609218 exactMatch SNOMEDCT_US_2023_03_01:782754006 exactMatch UMLS_CUI:C5190596 |
| Subsets |
DO_rare_slim |
| Synonyms |
FHONDA [NARROW] 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] |
| Parent Relationships |
is_a retinal disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |