Visualize Submit Comment
Metadata
ID DOID:0110216
Name Leber congenital amaurosis 11
Definition A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.
https://www.ncbi.nlm.nih.gov/pubmed/16384941
Xrefs

ICD10CM:H35.5

MESH:C564140

MIM:613837

Synonyms

LCA11 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a Leber congenital amaurosis

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

disease has basis in some Abnormality of prenatal development or birth

Add an item to the term tracker