Nephrotic syndrome, type 21

Preferred Label : Nephrotic syndrome, type 21;

Symbol : NPHS21;

CISMeF acronym : NPHS21;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the advillin gene (AVIL, 613397.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #618594;

Details

Origin ID

618594;

UMLS CUI

C5231498;

Genes related to phenotype
- Advillin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Podocyte foot process effacement [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Steroid-resistant nephrotic syndrome [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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