Focal Segmental Glomerulosclerosis 7

Preferred Label : Focal Segmental Glomerulosclerosis 7;

NCIt synonyms : FSGS7;

NCIt definition : An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the PAX2 gene, encoding which paired box protein Pax-2.;

Details

Origin ID

C202604;

UMLS CUI

C4014925;

Currated CISMeF NLP mapping
- Focal segmental glomerulosclerosis 7 [OMIM Phenotype]
- focal segmental glomerulosclerosis 7 [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal segmental glomerulosclerosis 7 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Glomerular Hypertrophy [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- PAX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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