MeSH Browser

MeSH Supplementary: Nephronophthisis, familial juvenile
Unique ID: C537699
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537699
Entry Term(s): Juvenile nephronophthisis; Nephronophthisis 1; Type 1 nephronophthisis
Heading Mapped to: Kidney Diseases, Cystic / congenital
Frequency: 88
Note: A hereditary, autosomal recessive cystic kidney disease that leads to RENAL FAILURE in childhood or adolescence. It is the most frequent genetic cause of renal failure in children and is characterized by ANEMIA; POLYURIA; POLYDYPSIA, and isosthenuria; extrarenal manifestations may include, LIVER FIBROSIS; SITUS INVERSUS, and cardiac malformations. Mutations in the NPHP1 gene have been identified. OMIM: 256100
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Concept UI: M0532160
Terms: Nephronophthisis, familial juvenile Preferred Term
Term UI T743458
Date02/24/2009
LexicalTag NON
ThesaurusID; Juvenile nephronophthisis
Term UI T743454
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Type 1 nephronophthisis
Term UI T743455
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Nephronophthisis 1
Term UI T743459
Date02/24/2009
LexicalTag NON
ThesaurusID

Nephronophthisis, familial juvenile MeSH Supplementary Concept Data 2024