Foveal Hypoplasia 1
Disease ID: disease_node_20194
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| Dbxref | MIM:136520 |
|---|---|
| Subclassof | DOID_0050736, DOID_5679 |
| Data Source | DOID |
| Synonyms | FVH1, foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract, O'Donnell-Pappas syndrome, foveal hypoplasia-presenile cataract syndrome |
| Doid Label | foveal hypoplasia 1 |
| Doid Description | 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. PAX6 gene variation results in a number of eye diseases, including aniridia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all. O'Donnell-Pappas syndrome/foveal hypoplasia-presenile cataract syndrome refers to the subset of FVH1 with presenile cataract. This characteristic is not sufficient for distinction from FVH1 at this time [JAB, 2024-01-23]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20194 |
| Doid Id | DOID_0070530 |
| Label | Foveal Hypoplasia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Retinal Diseases(ID:disease_node_6605) (Disease)