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DOID:0110330 - Leber congenital amaurosis 13
Disease Ontology Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
Synonyms: LCA13,
Xenbase Genes :
MONDO:0012990 - Leber congenital amaurosis 13 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Leber congenital amaurosis (is_a),
autosomal dominant disease (is_a),
autosomal recessive disease (is_a)