Deafness, autosomal recessive 9

Preferred Label : Deafness, autosomal recessive 9;

Symbol : DFNB9;

CISMeF acronym : AUNB1; DFNB9; NSRAN; NSRD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurosensory nonsyndromic recessive deafness 9; NSRD9;

Included titles and symbols : Auditory neuropathy, autosomal recessive, 1; Auditory neuropathy, nonsyndromic recessive; AUNB1; NSRAN;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the otoferlin gene (OTOF, 603681.0001);

Prefixed ID : #601071;

Details

Origin ID

601071;

UMLS CUI

C1832828;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- auditory neuropathy, nonsyndromic recessive [MeSH concept]
- auditory neuropathy, nonsyndromic recessive [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 9 [DO Concept]
- deafness, autosomal recessive 9 [MeSH concept]
- deafness, autosomal recessive 9 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 9 [DO Concept]
Genes related to phenotype
- Otoferlin [OMIM gene]
HPO term(s)
- Absence of acoustic middle ear muscle reflexes [HPO term]
- Absence of acoustic reflex [HPO term]
- Absent brainstem auditory responses [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Congenital onset [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 9 [MeSH Supplementary Concept]
- deafness, autosomal recessive 9 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients