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DO Term : Leber congenital amaurosis with early-onset deafness [DOID:0112240] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
617879,
OMIM:617879,
LCAEOD

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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