Deafness, nonsyndromic sensorineural, mitochondrial

Preferred Label : Deafness, nonsyndromic sensorineural, mitochondrial;

Type : Phenotype, molecular basis known;

Description : Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007).;

Prefixed ID : #500008;

Details

Origin ID

500008;

UMLS CUI

C3151897;

Automatic exact mappings (from CISMeF team)
- Deafness, nonsyndromic sensorineural, mitochondrial [MeSH concept]
- Non-syndromic mitochondrial sensorineural deafness [ICD-11 More detail]
- Non-syndromic mitochondrial sensorineural deafness (disorder) [SNOMED CT concept]
- mitochondrial nonsyndromic sensorineural deafness [DO Concept]
Currated CISMeF NLP mapping
- Mitochondrial non-syndromic sensorineural deafness [ORDO Disease]
DO Cross reference
- mitochondrial nonsyndromic sensorineural deafness [DO Concept]
Manual NTBT mappings (CISMeF)
- nonsyndromic sensorineural deafness [Disease (Nov.)]
ORDO concept(s)
- Mitochondrial non-syndromic sensorineural deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients