Congenital anomalies of kidney and urinary tract 3

Preferred Label : Congenital anomalies of kidney and urinary tract 3;

Symbol : CAKUT3;

CISMeF acronym : CAKUT3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear receptor-interacting protein 1 gene (NRIP1, 602490.0001);

Prefixed ID : #618270;

Details

Origin ID

618270;

UMLS CUI

C4748921;

Genes related to phenotype
- Nuclear receptor-interacting protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ectopic kidney [HPO term]
- Hydronephrosis [HPO term]
- Incomplete penetrance [HPO term]
- Renal cyst [HPO term]
- Variable expressivity [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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