Deafness, autosomal recessive 112

Preferred Label : Deafness, autosomal recessive 112;

Symbol : DFNB112;

CISMeF acronym : DFNB112;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the B-double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene (BDP1, 607012.0001);

Prefixed ID : #618257;

Details

Origin ID

618257;

UMLS CUI

C4748855;

Automatic exact mappings (from CISMeF team)
- autosomal recessive nonsyndromic deafness 112 [DO Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 112 [DO Concept]
Genes related to phenotype
- B-double prime 1, subunit of rna polymerase III transcription initiation factor iiib [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Progressive hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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