foveal hypoplasia 1
Information
- Disease name
- foveal hypoplasia 1
- Disease ID
- DOID:0070530
- 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." [url:https\://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome, url:https\://eyewiki.org/Foveal_Hypoplasia, url:https\://pubmed.ncbi.nlm.nih.gov/12721955/, url:https\://pubmed.ncbi.nlm.nih.gov/24290379/, url:https\://pubmed.ncbi.nlm.nih.gov/7065945/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:5679
- Cross Reference ID (Disease Ontology)
- MIM:136520
- Exact Synonym (Disease Ontology)
- foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract
- Exact Synonym (Disease Ontology)
- FVH1
- Disase Synonym (Disease Ontology)
- foveal hypoplasia-presenile cataract syndrome
- Disase Synonym (Disease Ontology)
- O'Donnell-Pappas syndrome