Megabladder, congenital

Preferred Label : Megabladder, congenital;

Symbol : MGBL;

CISMeF acronym : MGBL;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myocardin gene (MYOCD, 606127.0001);

Prefixed ID : #618719;

Details

Origin ID

618719;

UMLS CUI

C5231472;

Currated CISMeF NLP mapping
- Congenital megabladder [PASCAL descriptor]
- congenital megabladder [DO Concept]
DO Cross reference
- congenital megabladder [DO Concept]
Genes related to phenotype
- Myocardin [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Fetal megacystis [HPO term]
- Hyperechogenic kidneys [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Multiple glomerular cysts [HPO term]
- Patent ductus arteriosus [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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