Spermatogenic failure 28

Preferred Label : Spermatogenic failure 28;

Symbol : SPGF28;

CISMeF acronym : SPGF28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FANCM gene (FANCM, 609644.0003);

Prefixed ID : #618086;

Details

Origin ID

618086;

UMLS CUI

C4748117;

Automatic exact mappings (from CISMeF team)
- spermatogenic failure 28 [DO Concept]
DO Cross reference
- spermatogenic failure 28 [DO Concept]
Genes related to phenotype
- Fancm gene [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Decreased testicular size [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [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]

Keyword's position in hierarchy(ies) :

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