Nephronophthisis 2

Preferred Label : Nephronophthisis 2;

Symbol : NPHP2;

CISMeF acronym : NPHP2; NPH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NPH2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the inversin gene (INVS, 243305.0001);

Laboratory abnormalities : Hyperkalemia; Elevated serum creatinine;

Prefixed ID : #602088;

Détails

Origin ID

602088;

UMLS CUI

C1865872;

CISMeF manual mappings
- nephronophthisis type 2 [Disease (Nov.)]
Currated CISMeF NLP mapping
- nephronophthisis 2 [DO Concept]
- nephronophthisis 2 [MeSH concept]
- nephronophthisis 2 [MeSH Supplementary Concept]
DO Cross reference
- nephronophthisis 2 [DO Concept]
Genes related to phenotype
- Inversin [OMIM gene]
HPO term(s)
- Absence of renal corticomedullary differentiation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic tubulointerstitial nephritis [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Enlarged kidney [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hyperkalemia [HPO term]
- Hyperkalemic metabolic acidosis [HPO term]
- Hypertension [HPO term]
- Nephronophthisis [HPO term]
- Oligohydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pulmonary insufficiency [HPO term]
- Renal cortical microcysts [HPO term]
- Renal failure by age 3 [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Situs inversus totalis [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Infantile nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile nephronophthisis (disorder) [SNOMED CT concept]
- infantile nephronophthisis [Disease (Nov.)]
- nephronophthisis 2 [MeSH Supplementary Concept]
- nephronophthisis 2 [MeSH concept]
- nephronophthisis 2 [DO Concept]
- nephronophthisis type 2 [Disease (Nov.)]

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