| Metadata | |
|---|---|
| ID | DOID:0070530 |
| Name | foveal hypoplasia 1 |
| Definition | A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. https://eyewiki.org/Foveal_Hypoplasia, https://pubmed.ncbi.nlm.nih.gov/7065945/, https://pubmed.ncbi.nlm.nih.gov/24290379/, https://pubmed.ncbi.nlm.nih.gov/12721955/, https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome |
| Xrefs | |
| SKOS |
exactMatch MIM:136520 narrowMatch UMLS_CUI:C2931644 narrowMatch GARD:406 narrowMatch ORDO:2253 |
| Synonyms |
foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract [EXACT] foveal hypoplasia-presenile cataract syndrome [NARROW] FVH1 [EXACT] O'Donnell-Pappas syndrome [NARROW] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinal disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |