Metadata | |
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ID | DOID:0110216 |
Name | Leber congenital amaurosis 11 |
Definition | A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. https://www.ncbi.nlm.nih.gov/pubmed/16384941 |
Xrefs | |
Synonyms |
LCA11 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |