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Metadata
ID DOID:0110118
Name Leber congenital amaurosis 16
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
https://www.ncbi.nlm.nih.gov/pubmed/21763485
Xrefs

ICD10CM:H35.5

OMIM:614186

Synonyms

LCA16 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

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