ZFIN Human Disease: Leber congenital amaurosis 4

OBO ID: DOID:0110332

Term Name:	Leber congenital amaurosis 4		Search Ontology:
Synonyms:	LCA4
Definition:	A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10615133
References:	ICD10CM:H35.5 MESH:C565778 OMIM:604393
Ontology:	Human Disease ( DOID:0110332 )

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 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AIPL1	aipl1	Retinitis pigmentosa, juvenile	604393
		Cone-rod dystrophy	604393
		Leber congenital amaurosis 4	604393

ZEBRAFISH MODELS

Fish	Conditions	Citations
aipl2^oki6/oki6	standard conditions	Iribarne et al., 2017

PHENOTYPE No data available

CITATIONS (1)