Spermatogenic failure 8

Preferred Label : Spermatogenic failure 8;

Symbol : SPGF8;

CISMeF acronym : SPGF8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 5, group A, member 1 gene (NR5A1, 184757.0016);

Prefixed ID : #613957;

Détails

Origin ID

613957;

UMLS CUI

C3151406;

Currated CISMeF NLP mapping
- spermatogenic failure 8 [DO Concept]
DO Cross reference
- spermatogenic failure 8 [DO Concept]
Genes related to phenotype
- Nuclear receptor subfamily 5, group a, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Azoospermia [HPO term]
- Cryptozoospermia [HPO term]
- Oligospermia [HPO term]
ORDO concept(s)
- Male infertility with azoospermia or oligozoospermia due to single gene mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spermatogenic failure 8 [DO Concept]

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

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