ZFIN Human Disease: Leber congenital amaurosis 1

OBO ID: DOID:0110078

Term Name:	Leber congenital amaurosis 1		Search Ontology:
Synonyms:	amaurosis congenita of Leber I LCA1
Definition:	A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8944027
References:	ICD10CM:H35.5 OMIM:204000
Ontology:	Human Disease ( DOID:0110078 )

Relationships

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

OTHER Leber congenital amaurosis 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GUCY2D	gucy2f gucy2d	Leber congenital amaurosis 1	204000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None