Visualize Submit Comment
Metadata
ID DOID:0110189
Name Leber congenital amaurosis 15
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
https://www.ncbi.nlm.nih.gov/pubmed/15024725
Xrefs

ICD10CM:H35.5

MIM:613843

Synonyms

LCA15 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

Add an item to the term tracker