Nephropathy, progressive tubulointerstitial, with cholestatic liver disease

Preferred Label : Nephropathy, progressive tubulointerstitial, with cholestatic liver disease;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 602114;

Details

Origin ID

602114;

UMLS CUI

C1865831;

Automatic exact mappings (from CISMeF team)
- nephropathy, progressive tubulointerstitial, with cholestatic liver disease [MeSH concept]
- nephropathy, progressive tubulointerstitial, with cholestatic liver disease [MeSH Supplementary Concept]
HPO term(s)
- Abnormal tubulointerstitial morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestatic liver disease [HPO term]
- Chronic kidney disease [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Nephropathy [HPO term]
- Progressive renal insufficiency [HPO term]
- Tubulointerstitial nephropathy [HPO term]
ORDO concept(s)
- Primary sclerosing cholangitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephropathy, progressive tubulointerstitial, with cholestatic liver disease [MeSH Supplementary Concept]
- nephropathy, progressive tubulointerstitial, with cholestatic liver disease [MeSH concept]

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