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Metadata
ID	DOID:0110330
Name	Leber congenital amaurosis 13
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. https://www.ncbi.nlm.nih.gov/pubmed/15258582
Xrefs	ICD10CM:H35.5 MESH:C567197 OMIM:612712
Synonyms	LCA13 [EXACT]
Parent Relationships	is_a Leber congenital amaurosis is_a autosomal recessive disease is_a autosomal dominant disease