Focal segmental glomerulosclerosis 7

Preferred Label : Focal segmental glomerulosclerosis 7;

Symbol : FSGS7;

CISMeF acronym : FSGS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomerulosclerosis, focal segmental, 7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box gene 2 gene (PAX2, 167409.0013);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #616002;

Details

Origin ID

616002;

UMLS CUI

C4014925;

Automatic exact mappings (from CISMeF team)
- PAX2 wt Allele [NCIt concept]
CISMeF manual mappings
- focal segmental glomerulosclerosis 7 [DO Concept]
Currated CISMeF NLP mapping
- Focal Segmental Glomerulosclerosis 7 [NCIt concept]
DO Cross reference
- focal segmental glomerulosclerosis 7 [DO Concept]
Genes related to phenotype
- Paired box gene 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Incomplete penetrance [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Renal hypoplasia [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal Segmental Glomerulosclerosis 7 [NCIt concept]
- focal segmental glomerulosclerosis 7 [DO Concept]

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