Deafness, autosomal recessive 5

Preferred Label : Deafness, autosomal recessive 5;

Symbol : DFNB5;

CISMeF acronym : DFNB5; NSRD5;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : NSRD5; Neurosensory nonsyndromic recessive deafness 5;

Inheritance : Autosomal recessive (14q);

Prefixed ID : %600792;

Details

Origin ID

600792;

UMLS CUI

C1833319;

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 5 [DO Concept]
- deafness, autosomal recessive 5 [MeSH concept]
- deafness, autosomal recessive 5 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 5 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [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 5 [MeSH Supplementary Concept]
- deafness, autosomal recessive 5 [MeSH concept]

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