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Metadata
ID	DOID:0112240
Name	Leber congenital amaurosis with early-onset deafness
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/
Xrefs	MIM:617879
Synonyms	LCAEOD [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a sensory system disease