Metadata | |
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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 |