Cholestasis, progressive familial intrahepatic, 6

Preferred Label : Cholestasis, progressive familial intrahepatic, 6;

Symbol : PFIC6;

Type : Phenotype, molecular basis known;

Prefixed ID : #619484;

Details

Origin ID

619484;

UMLS CUI

C5561965;

Genes related to phenotype
- Solute carrier family 51, subunit alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bleeding requiring red cell transfusion [HPO term]
- Bruising susceptibility [HPO term]
- Chronic diarrhea [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated gamma-glutamyltransferase level [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Infantile onset [HPO term]
- Intrahepatic cholestasis [HPO term]
- Periportal fibrosis [HPO term]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients