Hypercholanemia, familial 3

Preferred Label : Hypercholanemia, familial 3;

Symbol : FHCA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bile acid conjugation defect 1; BACD1;

Prefixed ID : #619232;

Details

Origin ID

619232;

UMLS CUI

C5543203;

Genes related to phenotype
- Bile acid coa:amino acid n-acyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Juvenile onset [HPO term]
- Rickets [HPO term]
ORDO concept(s)
- Familial hypercholanemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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