Spermatogenic failure 7

Preferred Label : Spermatogenic failure 7;

Symbol : SPGF7;

CISMeF acronym : MIAR; SPGF7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Male infertility, nonsyndromic, autosomal recessive; MIAR;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cation channel, sperm-associated, 1 gene (CATSPER1, 606389.0001);

Prefixed ID : #612997;

Details

Origin ID

612997;

UMLS CUI

C2751811;

Automatic exact mappings (from CISMeF team)
- Non-syndromic male infertility due to sperm motility disorder [ORDO Disease]
Currated CISMeF NLP mapping
- spermatogenic failure 7 [DO Concept]
- spermatogenic failure 7 [MeSH concept]
- spermatogenic failure 7 [MeSH Supplementary Concept]
DO Cross reference
- spermatogenic failure 7 [DO Concept]
Genes related to phenotype
- Cation channel, sperm-associated, 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Immotile sperm [HPO term]
- Male infertility [HPO term]
- Oligospermia [HPO term]
- Reduced sperm motility [HPO term]
ORDO concept(s)
- Non-syndromic male infertility due to sperm motility disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spermatogenic failure 7 [MeSH Supplementary Concept]
- spermatogenic failure 7 [MeSH concept]
- spermatogenic failure 7 [DO Concept]

Keyword's position in hierarchy(ies) :

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