Spermatogenic failure 2

Preferred Label : Spermatogenic failure 2;

Symbol : SPGF2;

CISMeF acronym : ASG; SPGF2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aspermiogenesis factor; ASG;

Description : For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Pericentric inversion of chromosome 1;

Prefixed ID : #108420;

Détails

Origin ID

108420;

UMLS CUI

C1862459;

Automatic exact mappings (from CISMeF team)
- blood glucose self-monitoring [MeSH Descriptor]
Currated CISMeF NLP mapping
- spermatogenic failure 2 [DO Concept]
DO Cross reference
- spermatogenic failure 2 [DO Concept]
Genes related to phenotype
- Muts homolog 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Azoospermia [HPO term]
- Oligospermia [HPO term]
ORDO concept(s)
- Male infertility with azoospermia or oligozoospermia due to single gene mutation [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- spermatogenic failure 2 [DO Concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients