Spermatogenic failure 19

Preferred Label : Spermatogenic failure 19;

Symbol : SPGF19;

CISMeF acronym : SPGF19;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cilia- and flagella-associated protein-43 gene (CFAP43, 617558.0001);

Prefixed ID : #617592;

Détails

Origin ID

617592;

UMLS CUI

C4539818;

Currated CISMeF NLP mapping
- spermatogenic failure 19 [DO Concept]
DO Cross reference
- spermatogenic failure 19 [DO Concept]
Genes related to phenotype
- Cilia- and flagella-associated protein 43 [OMIM gene]
HPO term(s)
- Absent sperm flagella [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coiled sperm flagella [HPO term]
- Infertility [HPO term]
- Short sperm flagella [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 19 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients