ZFIN Human Disease: Leber congenital amaurosis with early-onset deafness

OBO ID: DOID:0112240

Term Name:	Leber congenital amaurosis with early-onset deafness		Search Ontology:
Synonyms:	LCAEOD
Definition:	A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. https://pubmed.ncbi.nlm.nih.gov/29198720/
References:	OMIM:617879
Ontology:	Human Disease ( DOID:0112240 )

Relationships

is a type of:	autosomal dominant disease sensory system disease autosomal dominant disease sensory system disease Show first 5 Terms

OTHER Leber congenital amaurosis with early-onset deafness PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TUBB4B	tubb4b	Leber congenital amaurosis with early-onset deafness	617879

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None