Deafness, autosomal recessive 1b

Preferred Label : Deafness, autosomal recessive 1b;

Symbol : DFNB1B;

CISMeF acronym : DFNB1B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gap junction protein, beta-6 gene (GJB6, 604418.0004);

Prefixed ID : #612645;

Details

Origin ID

612645;

UMLS CUI

C2675235;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 1B [DO Concept]
- deafness, autosomal recessive 1b [MeSH concept]
- deafness, autosomal recessive 1b [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 1B [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hearing impairment [HPO term]
- Vestibular dysfunction [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 1b [MeSH Supplementary Concept]
- deafness, autosomal recessive 1b [MeSH concept]

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