Deafness, autosomal recessive 86

Preferred Label : Deafness, autosomal recessive 86;

Symbol : DFNB86;

CISMeF acronym : DFNB86;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0012);

Prefixed ID : #614617;

Details

Origin ID

614617;

UMLS CUI

C2829265;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 86 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 86 [DO Concept]
Genes related to phenotype
- Tbc1 domain family, member 24 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- 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]

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