Deafness, autosomal recessive 46

Preferred Label : Deafness, autosomal recessive 46;

Symbol : DFNB46;

CISMeF acronym : DFNB46;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %609647;

Details

Origin ID

609647;

UMLS CUI

C1864815;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 46 [DO Concept]
- deafness, autosomal recessive 46 [MeSH concept]
- deafness, autosomal recessive 46 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 46 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Profound sensorineural hearing impairment [HPO term]
Not associated HPO term(s)
- Absent vestibular function [HPO term]
- Intellectual disability [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 46 [MeSH Supplementary Concept]
- deafness, autosomal recessive 46 [MeSH concept]

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