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Human Disease

Leber congenital amaurosis with early-onset deafness

Term ID
DOID:0112240
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
Ontology
Human Disease   ( DOID:0112240 )
Relationships
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Genes Involved
Zebrafish Models