Cardiac-urogenital syndrome

Preferred Label : Cardiac-urogenital syndrome;

Symbol : CUGS;

CISMeF acronym : CUGS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin regulatory factor gene (MYRF, 608329.0002);

Prefixed ID : #618280;

Details

Origin ID

618280;

UMLS CUI

C4748946;

Genes related to phenotype
- Myelin regulatory factor [OMIM gene]
HPO term(s)
- Accessory spleen [HPO term]
- Ambiguous genitalia [HPO term]
- Aplasia of the uterus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Bronchomalacia [HPO term]
- Cryptorchidism [HPO term]
- Dextrocardia [HPO term]
- Dysplastic tricuspid valve [HPO term]
- Hepatopulmonary fusion [HPO term]
- Hypoplastic left heart [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent urachus [HPO term]
- Pulmonary hypoplasia [HPO term]
- Scimitar anomaly [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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