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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 TUBB4B on chromosome 9q34.3.
https://pubmed.ncbi.nlm.nih.gov/29198720/
Xrefs

OMIM:617879

Synonyms

LCAEOD [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a sensory system disease

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