46,XX sex reversal 5

Preferred Label : 46,XX sex reversal 5;

Symbol : SRXX5;

CISMeF acronym : SRXX5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 2, group F, member 2 gene (NR2F2, 107773.0008);

Prefixed ID : #618901;

Details

Origin ID

618901;

UMLS CUI

C5394441;

Genes related to phenotype
- Nuclear receptor subfamily 2, group f, member 2 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Aplasia of the left hemidiaphragm [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypoplastic left heart [HPO term]
- Increased serum testosterone level [HPO term]
- Secundum atrial septal defect [HPO term]
- Urogenital sinus anomaly [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients