Leber congenital amaurosis with early-onset deafness

Summary

DOID:0112240 - Leber congenital amaurosis with early-onset deafness

Disease Ontology 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.

Synonyms: LCAEOD

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tubb4b

MIM:

MIM:617879 - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD

MIM:617879 - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), sensory system disease (is_a)