Biliary malformation with renal tubular insufficiency

Preferred Label : Biliary malformation with renal tubular insufficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cholestatic jaundice and renal tubular insufficiency;

Inheritance : Autosomal vs. X-linked recessive;

Prefixed ID : 210550;

Details

Origin ID

210550;

UMLS CUI

C0400972;

Currated CISMeF NLP mapping
- Biliary malformation associated with renal tubular insufficiency (disorder) [SNOMED CT concept]
- Biliary tract malformation-renal failure syndrome [ORDO Disease]
- Lutz Richner Landolt syndrome [MeSH concept]
- lutz richner landolt syndrome [MeSH Supplementary Concept]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Biliary hyperplasia [HPO term]
- Chronic metabolic acidosis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Failure to thrive [HPO term]
- Generalized aminoaciduria [HPO term]
- Generalized hypotonia [HPO term]
- Generalized nonspecific aminoaciduria [HPO term]
- Glycosuria [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hypotonia [HPO term]
- Jaundice [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Proteinuria [HPO term]
- Recurrent infections [HPO term]
- Renal tubular dysfunction [HPO term]
- Single transverse palmar crease [HPO term]
- Susceptibility to infection [HPO term]
- Talipes equinovarus [HPO term]
- X-linked recessive inheritance [HPO term]
Matching ORDO disease(s)
- Biliary tract malformation-renal failure syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biliary malformation associated with renal tubular insufficiency (disorder) [SNOMED CT concept]
- Biliary tract malformation-renal failure syndrome [ORDO Disease]
- Lutz Richner Landolt syndrome [MeSH concept]
- lutz richner landolt syndrome [MeSH Supplementary Concept]

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