autosomal recessive nonsyndromic deafness 53 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive nonsyndromic deafness 53 (DOID:0110509)
Alliance: disease page
Synonyms: autosomal recessive deafness 53; DFNB53
Alt IDs: OMIM:609706, ICD10CM:H90.3
Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.

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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