Deafness, Autosomal Recessive 12 malady
Categories: Genetic diseases, Neuronal diseases, Ear diseases, Rare diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 12:
deafness, autosomal recessive 12:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Ear diseases, Cardiovascular diseases
OMIM:49 Chaib et al. (1996) reviewed the frequency and inheritance of congenital isolated deafness and causes for difficulties... (601386) more...
MalaCards based summary: Deafness, Autosomal Recessive 12, also known as deafness, autosomal recessive, 12, is related to dfnb12 nonsyndromic hearing loss and deafness and usher syndrome, and has symptoms including abnormality of the eyeand prelingual sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Recessive 12 is CDH23 (Cadherin-Related 23). Affiliated tissues include brain and eye, and related mouse phenotype hearing/vestibular/ear.
UniProtKB/Swiss-Prot:67 Deafness, autosomal recessive, 12: A form of non-syndromic sensorineural hearing loss. 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.
MalaCards organs/tissues related to Deafness, Autosomal Recessive 12:33
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 12:67 (show all 31)
Clinvar genetic disease variations for Deafness, Autosomal Recessive 12:5
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 12.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet