ZFIN Human Disease: Leber congenital amaurosis 2

OBO ID: DOID:0110016

Term Name:	Leber congenital amaurosis 2		Search Ontology:
Synonyms:	amaurosis congenita of Leber II LCA2
Definition:	A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. https://www.ncbi.nlm.nih.gov/pubmed/9326927
References:	ICD10CM:H35.5 OMIM:204100
Ontology:	Human Disease ( DOID:0110016 )

Relationships

is a type of:	autosomal recessive disease Leber congenital amaurosis 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
RPE65	rpe65a rpe65b	Leber congenital amaurosis 2	204100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None