Nephronophthisis 4

Preferred Label : Nephronophthisis 4;

Symbol : NPHP4;

CISMeF acronym : NPHP4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephronophthisis 4, juvenile;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrocystin 4 gene (NPHP4, 607215.0001);

Prefixed ID : #606966;

Details

Origin ID

606966;

UMLS CUI

C1847013;

CISMeF manual mappings
- nephronophthisis type 4 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Nephronophthisis type 4 (disorder) [SNOMED CT concept]
- nephrocystin 4 [ORDO Gene]
- nephronophthisis 4 [DO Concept]
- nephronophthisis 4 [MeSH concept]
- nephronophthisis 4 [MeSH Supplementary Concept]
DO Cross reference
- nephronophthisis 4 [DO Concept]
Genes related to phenotype
- Nephrocystin 4 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Growth delay [HPO term]
- Interstitial fibrosis [HPO term]
- Nephronophthisis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal tubular atrophy [HPO term]
- Renal tubular cell atrophy with corticomedullary cysts [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tubulointerstitial fibrosis [HPO term]
ORDO concept(s)
- Nephronophthisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 4 [MeSH Supplementary Concept]
- nephronophthisis 4 [MeSH concept]

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