Metadata | |
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ID | DOID:0110079 |
Name | Leber congenital amaurosis 8 |
Definition | A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. https://www.ncbi.nlm.nih.gov/pubmed/11231775 |
Xrefs | |
Synonyms |
LCA8 [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 |