Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Intrahepatic cholestasis of pregnancy

Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis

ORPHA:69665

Benign recurrent intrahepatic cholestasis

BRIC · Summerskill-Walshe-Tygstrup syndrome

ORPHA:65682

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

ORPHA:99960

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

ORPHA:99961

Familial intrahepatic cholestasis

ORPHA:284385

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

ORPHA:480491

Neonatal intrahepatic cholestasis due to citrin deficiency

NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency

ORPHA:247598

OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis

OBSOLETE: Cholestatic hepatic amyloidosis

ORPHA:102069

Progressive familial intrahepatic cholestasis

PFIC

ORPHA:172

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

ORPHA:79306

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

ORPHA:79304

Progressive familial intrahepatic cholestasis type 3

PFIC3

ORPHA:79305

Progressive familial intrahepatic cholestasis type 4

TJP2 deficit · PFIC4

ORPHA:480483

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

ORPHA:480476