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Metadata
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

ICD10CM:H35.5

MESH:C564140

OMIM:613837

Synonyms

LCA11 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal dominant disease

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