Nephronophthisis 3

Preferred Label : Nephronophthisis 3;

Symbol : NPHP3;

CISMeF acronym : NPHP3; NPH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NPH3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrocystin 3 gene (NPHP3, 608002.0001);

Laboratory abnormalities : No proteinuria; No hematuria;

Prefixed ID : #604387;

Details

Origin ID

604387;

UMLS CUI

C1858392;

Automatic exact mappings (from CISMeF team)
- Late-onset nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
- nephrocystin 3 [ORDO Gene]
- nephrocystin 3 [HGNC gene]
CISMeF manual mappings
- nephronophthisis type 3 [Disease (Nov.)]
Currated CISMeF NLP mapping
- nephronophthisis 3 [DO Concept]
- nephronophthisis 3 [MeSH concept]
- nephronophthisis 3 [MeSH Supplementary Concept]
DO Cross reference
- nephronophthisis 3 [DO Concept]
Genes related to phenotype
- Nephrocystin 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Enuresis [HPO term]
- Hepatic fibrosis [HPO term]
- Interstitial fibrosis [HPO term]
- Nephronophthisis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal insufficiency [HPO term]
- Renal tubular atrophy [HPO term]
- Tubulointerstitial fibrosis [HPO term]
Not associated HPO term(s)
- Hematuria [HPO term]
- Proteinuria [HPO term]
ORDO concept(s)
- Late-onset nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adolescent nephronophthisis (disorder) [SNOMED CT concept]
- nephronophthisis 3 [MeSH Supplementary Concept]
- nephronophthisis 3 [MeSH concept]
- nephronophthisis 3 [DO Concept]
- nephronophthisis type 3 [Disease (Nov.)]

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