ORPHA:99961

Benign recurrent intrahepatic cholestasis type 2

Synonyms: BRIC type 2 · BRIC2

This disease is described under Benign recurrent intrahepatic cholestasis

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Benign recurrent intrahepatic cholestasis type 2	BRIC type 2 · BRIC2
fr	Cholestase intrahépatique récurrente bénigne type 2	= en
de	Cholestase, benigne intrahepatische, rekurrente, Typ 2	BRIC Typ 2 · BRIC2
es	Colestasis intrahepática recurrente benigna tipo 2	BRIC tipo 2 · BRIC2
it	Colestasi intraepatica ricorrente benigna, tipo 2	BRIC, tipo 2 · BRIC2
nl	Goedaardige recidiverende intrahepatische cholestase type 2	= en
pt	Colestase intrahepática benigna, tipo 2
pl	Łagodna nawracająca cholestaza wewnątrzwątrobowa typu 2	BRIC typu 2 · BRIC2
cs	Benigní rekurentní intrahepatální cholestáza, typ 2	BRIC typ 2 · BRIC2
uk	Доброякісний рецидивуючий внутрішньопечінковий холестаз, тип 2	BRIC тип 2 · BRIC2
zh	良性复发性肝内胆汁淤积2型	BRIC2型
tr	Selim nükseden intrahepatik kolestaz tip 2	BRIC2 · BRIC tip 2

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	605479	E		validated
ICD-10	K83.1	NTBT	attributed	validated
ICD-11	5C58.04	NTBT	index	validated
MONDO	0011559	E		validated
UMLS	C2608083	E		validated
GARD	10029	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:65682Benign recurrent intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ABCB11	Disease-causing germline mutation(s) in	Assessed	HGNC:42	ENSG00000073734	603201	2q31.1	ATP binding cassette subfamily B member 11

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.