Metadata | |
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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 | |
Synonyms |
LCAEOD [EXACT] |
Parent Relationships |