Deafness, autosomal recessive 36, with or without vestibular involvement

Preferred Label : Deafness, autosomal recessive 36, with or without vestibular involvement;

Symbol : DFNB36;

CISMeF acronym : DFNB36;

Type : Phenotype, molecular basis known;

Included titles and symbols : Deafness, autosomal dominant, without vestibular involvement;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the espin gene (ESPN, 606351.0001);

Prefixed ID : #609006;

Details

Origin ID

609006;

UMLS CUI

C1837007;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- Deafness, Autosomal Recessive 36 [NCIt concept]
- autosomal recessive nonsyndromic deafness 36 [DO Concept]
- deafness, autosomal recessive 36 [MeSH Supplementary Concept]
- deafness, autosomal recessive 36, without vestibular involvement [MeSH concept]
- deafness, autosomal recessive 36, without vestibular involvement [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 36 [DO Concept]
Genes related to phenotype
- Espin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
- Vestibular areflexia [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [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