Spermatogenic failure 33

Preferred Label : Spermatogenic failure 33;

Symbol : SPGF33;

CISMeF acronym : SPGF33;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-66 gene (WDR66, 618146.0001);

Prefixed ID : #618152;

Details

Origin ID

618152;

UMLS CUI

C4748395;

Automatic exact mappings (from CISMeF team)
- CFAP251 wt Allele [NCIt concept]
- spermatogenic failure 33 [DO Concept]
DO Cross reference
- spermatogenic failure 33 [DO Concept]
Genes related to phenotype
- Cilia- and flagella-associated protein 251 [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]

Keyword's position in hierarchy(ies) :

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