Visualize Submit Comment
Metadata
ID DOID:0110079
Name Leber congenital amaurosis 8
Definition A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.
https://www.ncbi.nlm.nih.gov/pubmed/11231775
Xrefs

ICD10CM:H35.5

OMIM:613835

Synonyms

LCA8 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

Add an item to the term tracker