Spermatogenic failure 5

Preferred Label : Spermatogenic failure 5;

Symbol : SPGF5;

CISMeF acronym : SPGF5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Male infertility with large-headed, multiflagellar, polyploid spermatozoa; Infertility associated with multitailed spermatozoa and excessive dna;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Aurora kinase C gene (AURKC, 603495.0001);

Laboratory abnormalities : Large spermatozoa; Irregularly shaped sperm heads; Multi-tailed spermatozoa; Polyploid sperm heads;

Prefixed ID : #243060;

Details

Origin ID

243060;

UMLS CUI

C0403812;

Currated CISMeF NLP mapping
- Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid (disorder) [SNOMED CT concept]
- Male infertility due to large-headed multiflagellar polyploid spermatozoa [ORDO Disease]
- male infertility with Large-Headed, multiflagellar, polyploid spermatozoa [MeSH concept]
- male infertility with Large-Headed, multiflagellar, polyploid spermatozoa [MeSH Supplementary Concept]
- spermatogenic failure 5 [DO Concept]
DO Cross reference
- spermatogenic failure 5 [DO Concept]
Genes related to phenotype
- Aurora kinase C [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Functional abnormality of male internal genitalia [HPO term]
- Male infertility [HPO term]
ORDO concept(s)
- Male infertility due to large-headed multiflagellar polyploid spermatozoa [ORDO Disease]
- Male infertility with teratozoospermia due to single gene mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid (disorder) [SNOMED CT concept]
- Male infertility due to large-headed multiflagellar polyploid spermatozoa [ORDO Disease]
- male infertility with Large-Headed, multiflagellar, polyploid spermatozoa [MeSH Supplementary Concept]
- male infertility with Large-Headed, multiflagellar, polyploid spermatozoa [MeSH concept]
- spermatogenic failure 5 [DO Concept]

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