ZFIN Human Disease: Leber congenital amaurosis 13

OBO ID: DOID:0110330

Term Name:	Leber congenital amaurosis 13		Search Ontology:
Synonyms:	LCA13
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
References:	ICD10CM:H35.5 MESH:C567197 OMIM:612712
Ontology:	Human Disease ( DOID:0110330 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease Leber congenital amaurosis autosomal dominant disease autosomal recessive disease Leber congenital amaurosis Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RDH11	rdh12	Leber congenital amaurosis 13	612712
RDH12	rdh12	Leber congenital amaurosis 13	612712

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None