Bile acid synthesis defect, congenital, 3

Preferred Label : Bile acid synthesis defect, congenital, 3;

Symbol : CBAS3;

CISMeF acronym : CBAS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, family 7, subfamily B, polypeptide 1 gene (CYP7B1, 603711.0001);

Laboratory abnormalities : Increased serum bilirubin; Abnormal liver function tests; Increased alkaline phosphatase;

Prefixed ID : #613812;

Details

Origin ID

613812;

UMLS CUI

C3151147;

Currated CISMeF NLP mapping
- Congenital bile acid synthesis defect type 3 [ICD-11 More detail]
- Congenital bile acid synthesis defect type 3 [ORDO Disease]
- Congenital bile acid synthesis defect type 3 (disorder) [SNOMED CT concept]
- bile acid synthesis defect, congenital, 3 [MeSH concept]
- bile acid synthesis defect, congenital, 3 [MeSH Supplementary Concept]
- congenital bile acid synthesis defect 3 [DO Concept]
DO Cross reference
- congenital bile acid synthesis defect 3 [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 7, subfamily b, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Acholic stools [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Diarrhea [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Hepatic failure [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Intrahepatic cholestasis [HPO term]
- Jaundice [HPO term]
- Neonatal onset [HPO term]
- Splenomegaly [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Congenital bile acid synthesis defect type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital bile acid synthesis defect type 3 [ORDO Disease]
- bile acid synthesis defect, congenital, 3 [MeSH Supplementary Concept]
- bile acid synthesis defect, congenital, 3 [MeSH concept]
- congenital bile acid synthesis defect 3 [DO Concept]

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