MedGen

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

A decreased magnitude of the sensory perception of sound. [from HPO]

An inherited or acquired condition characterized by the inability to hear in one or both ears. [from NCI]

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. [from NCI]

A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas. [from NCI]

The magnitude of INBREEDING in humans. [from MeSH]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. [from MONDO]

Mitochondrial nonsyndromic hearing loss and deafness is characterized by sensorineural hearing loss (SNHL) of variable onset and severity. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset SNHL. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Pathogenic variants in MT-TS1 are usually associated with childhood onset of SNHL that is generally nonsyndromic – although the MT-TS1 substitution m.7445A>G has been found in some families who also have palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels). [from GeneReviews]

Absence of the inner ear due to a developmental defect. [from HPO]

A progressive form of sensorineural hearing impairment. [from HPO]