Nephrotic syndrome, type 16

Preferred Label : Nephrotic syndrome, type 16;

Symbol : NPHS16;

CISMeF acronym : NPHS16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KN motif- and ankyrin repeat domain-containing protein 2 gene (KANK2, 614610.0002);

Laboratory abnormalities : Proteinuria; Hematuria;

Prefixed ID : #617783;

Details

Origin ID

617783;

UMLS CUI

C4540453;

Automatic exact mappings (from CISMeF team)
- nephrotic syndrome type 16 [DO Concept]
DO Cross reference
- nephrotic syndrome type 16 [DO Concept]
Genes related to phenotype
- Kn motif- and ankyrin repeat domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hematuria [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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