| Metadata | |
|---|---|
| ID | DOID:0110332 |
| Name | Leber congenital amaurosis 4 |
| Definition | A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10615133 |
| Xrefs | |
| Synonyms |
LCA4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Retinopathy has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has phenotype some Keratoconus |