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

MIM:613835

Synonyms

LCA8 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

Add an item to the term tracker