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Metadata
ID DOID:0110217
Name Leber congenital amaurosis 17
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.
https://www.ncbi.nlm.nih.gov/pubmed/23307924
Xrefs

ICD10CM:H35.5

OMIM:615360

Synonyms

LCA17 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

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