Visualize Submit Comment
Metadata
ID DOID:0110080
Name Leber congenital amaurosis 12
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32.
https://www.ncbi.nlm.nih.gov/pubmed/17186464
Xrefs

ICD10CM:H35.5

MESH:C565697

OMIM:610612

Synonyms

LCA12 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

Add an item to the term tracker