Focal segmental glomerulosclerosis 4, susceptibility to

Preferred Label : Focal segmental glomerulosclerosis 4, susceptibility to;

Symbol : FSGS4;

CISMeF acronym : FSGS4;

Type : Phenotype, molecular basis known;

Description : Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278).;

Prefixed ID : #612551;

Détails

Origin ID

612551;

UMLS CUI

C2675525;

Automatic exact mappings (from CISMeF team)
- APOL1 wt Allele [NCIt concept]
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
Genes related to phenotype
- Apolipoprotein l1 [OMIM gene]
HPO term(s)
- Focal segmental glomerulosclerosis [HPO term]
- Polygenic inheritance [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis [ORDO Disease]
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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