autosomal recessive nonsyndromic deafness 124 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive nonsyndromic deafness 124 (DOID:0070676)
Alliance: disease page
Synonyms: DFNB124
Alt IDs: OMIM:620794
Definition: An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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