ZFIN Human Disease: Leber congenital amaurosis 6

OBO ID: DOID:0110329

Term Name:	Leber congenital amaurosis 6		Search Ontology:
Synonyms:	LCA6
Definition:	A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794
References:	ICD10CM:H35.5 MESH:C565327 OMIM:613826
Ontology:	Human Disease ( DOID:0110329 )

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 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RPGRIP1	rpgrip1	Leber congenital amaurosis 6	613826

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None