Medullary Cystic Kidney Disease Type II

Preferred Label : Medullary Cystic Kidney Disease Type II;

Alternative definition : NICHD: An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.;

Détails

Origin ID

C123172;

UMLS CUI

C4054550;

Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
See also inter- (CISMeF)
- juvenile gout [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- UMOD Gene [NCIt concept]

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

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