Deafness-infertility syndrome

Preferred Label : Deafness-infertility syndrome;

Symbol : DIS;

CISMeF acronym : DIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, sensorineural, and male infertility; Chromosome 15q15.3 deletion syndrome;

Inheritance : Autosomal recessive;

Molecular basis : A contiguous gene syndrome caused by deletion of the stereocilin gene (STRC, 606440) and the sperm-associated cation channel-2 gene (CATSPER2, 607249) gene;

Prefixed ID : #611102;

Détails

Origin ID

611102;

UMLS CUI

C1970187;

Automatic exact mappings (from CISMeF team)
- CCAR1 wt Allele [NCIt concept]
- Discontinue [NCIt concept]
Currated CISMeF NLP mapping
- Deafness-infertility syndrome [ICD-11 More detail]
- Deafness-infertility syndrome [ORDO Disease]
- Sensorineural deafness and male infertility (disorder) [SNOMED CT concept]
- deafness, sensorineural, and male infertility [MeSH concept]
- deafness, sensorineural, and male infertility [MeSH Supplementary Concept]
HPO term(s)
- Abnormal spermatogenesis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Male infertility [HPO term]
- Reduced sperm motility [HPO term]
ORDO concept(s)
- Deafness-infertility syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness-infertility syndrome [ORDO Disease]
- Deafness-infertility syndrome [ICD-11 More detail]
- Sensorineural deafness and male infertility (disorder) [SNOMED CT concept]
- deafness, sensorineural, and male infertility [MeSH Supplementary Concept]
- deafness, sensorineural, and male infertility [MeSH concept]

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