Nephronophthisis 1

Preferred Label : Nephronophthisis 1;

NCIt synonyms : Juvenile Nephronophthisis; Familiar Juvenile Nephronophthisis; Familial Juvenile Nephronophthisis; NPH1;

NCIt definition : Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.;

Details

Origin ID

C74998;

UMLS CUI

C1855681;

Automatic exact mappings (from CISMeF team)
- Nephrocystin 1 [OMIM gene]
- Neurexophilin 1 [OMIM gene]
Currated CISMeF NLP mapping
- Juvenile nephronophthisis [ORDO Disease]
- Juvenile nephronophthisis [ICD-11 More detail]
- Juvenile nephronophthisis (disorder) [SNOMED CT concept]
- Nephronophthisis 1 [OMIM Phenotype]
- juvenile nephronophthisis [HPO term]
- nephronophthisis 1 [DO Concept]
- nephronophthisis type 1 [Disease (Nov.)]
- nephronophthisis, familial juvenile [MeSH Supplementary Concept]
- nephronophthisis, familial juvenile [MeSH 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)
- Juvenile nephronophthisis [ORDO Disease]
- Juvenile nephronophthisis (disorder) [SNOMED CT concept]
- Nephronophthisis 1 [OMIM Phenotype]
- juvenile nephronophthisis [HPO term]
- nephronophthisis, familial juvenile [MeSH Supplementary Concept]
- nephronophthisis, familial juvenile [MeSH concept]
Validated automatic mappings to NTBT
- Nephronophthisis [HPO term]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- NPHP1 wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- NPHP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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