| Metadata | |
|---|---|
| ID | DOID:0110330 |
| Name | Leber congenital amaurosis 13 |
| Definition | A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582 |
| Xrefs | |
| Synonyms |
LCA13 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |