| Metadata | |
|---|---|
| ID | DOID:0110329 |
| Name | Leber congenital amaurosis 6 |
| Definition | A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794 |
| Xrefs | |
| Synonyms |
LCA6 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |