Nephrotic syndrome, type 12

Preferred Label : Nephrotic syndrome, type 12;

Symbol : NPHS12;

CISMeF acronym : NPHS12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nucleoporin, 93-kD gene (NUP93, 614351.0001);

Laboratory abnormalities : Hematuria;

Prefixed ID : #616892;

Details

Origin ID

616892;

UMLS CUI

C4225166;

Currated CISMeF NLP mapping
- nephrotic syndrome type 12 [DO Concept]
DO Cross reference
- nephrotic syndrome type 12 [DO Concept]
Genes related to phenotype
- Nucleoporin, 93-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hematuria [HPO term]
- Progressive [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Steroid-resistant nephrotic syndrome [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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