Deafness, autosomal recessive 32, with or without immotile sperm

Preferred Label : Deafness, autosomal recessive 32, with or without immotile sperm;

Symbol : DFNB32;

CISMeF acronym : DFNB32; HIIMS; DFNB105;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HIIMS; Hearing impairment infertile male syndrome; Deafness, autosomal recessive 105; DFNB105;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cell division cycle 14A gene (CDC14A, 603504.0001);

Prefixed ID : #608653;

Details

Origin ID

608653;

UMLS CUI

C1837608;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 32 [DO Concept]
- deafness, autosomal recessive 32 [MeSH concept]
- deafness, autosomal recessive 32 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 32 [DO Concept]
Genes related to phenotype
- Cell division cycle 14a [OMIM gene]
HPO term(s)
- Abnormal sperm morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Immotile sperm [HPO term]
- Male infertility [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
See also inter- (CISMeF)
- cell division cycle 14A [ORDO Gene]
- symbol withdrawn DFNB32 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 32 [MeSH Supplementary Concept]
- deafness, autosomal recessive 32 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients