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autosomal recessive nonsyndromic deafness 25
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.
Uniprot Description A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110483
OMIM:613285
UMLS:C1414017
MONDO:0013210
High level summary of knowledge for a disease, including descriptions and datasource references.