Glomerulopathy with Fibronectin Deposits-2

Preferred Label : Glomerulopathy with Fibronectin Deposits-2;

NCIt synonyms : GFND2;

NCIt definition : An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the FN1 gene, encoding fibronectin. It is characterized by microscopic hematuria, proteinuria and hypertension resulting in end-stage renal disease.;

Details

Origin ID

C187984;

UMLS CUI

C1866075;

Automatic exact mappings (from CISMeF team)
- Glomerulopathy with fibronectin deposits 2 [OMIM Phenotype]
- fibronectin 1 [ORDO Gene]
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)
- Glomerulopathy with fibronectin deposits [MeSH concept]
- Glomerulopathy with fibronectin deposits 2 [OMIM Phenotype]
- Glomerulopathy with fibronectin deposits 2 (disorder) [SNOMED CT concept]
- glomerulopathy with fibronectin deposits 2 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- FN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients