Biliary cirrhosis, primary, 1

Preferred Label : Biliary cirrhosis, primary, 1;

Symbol : PBC1;

CISMeF acronym : PBC; PBC1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : PBC;

Description : Primary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus (161560) on chromosome 3p12-q13.2. Significant association of PBC has also been shown with SNPs at the HLA-DQB1 locus (604305) on chromosome 6p21.3 (PBC2; 613007), at the IL12RB2 locus (601642) on chromosome 1p31.2 (PBC3; 613008), at the IRF5 (607218)-TNPO3 (610032) locus on chromosome 7q32 (PBC4; 614220), and at the ZPBP2 locus (608499) on chromosome 17q12-q21 (PBC5; 614221). Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (Kaplan, 1996). See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a feature.;

Inheritance : Autosomal dominant;

Prefixed ID : %109720;

Details

Origin ID

109720;

UMLS CUI

C4551595;

Broader ORDO disease(s)
- Primary biliary cholangitis [ORDO Disease]
Currated CISMeF NLP mapping
- Biliary cirrhosis [HPO term]
- Biliary cirrhosis primary [MedDRA Preferred Term]
- Primary Biliary Cholangitis [MeSH concept]
- Primary Biliary Cirrhosis [NCIt concept]
- Primary biliary cholangitis [ORDO Disease]
- Primary biliary cholangitis (disorder) [SNOMED CT concept]
- Primary biliary cirrhosis [ICD-10 Sub-category]
- Primary biliary cirrhosis [PASCAL descriptor]
- Primary biliary cirrhosis [MedDRA LLT]
- Primary biliary cirrhosis [ICD-10 Sub-category (who)]
- liver cirrhosis, biliary [MeSH Descriptor]
- primary biliary cholangitis [DO Concept]
- primary biliary cirrhosis [Disease (Nov.)]
- primary biliary cirrhosis [Radlex concept]
- primary biliary cirrhosis [SNOMED Notion]
DO Cross reference
- primary biliary cholangitis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Biliary cirrhosis [HPO term]
ORDO concept(s)
- Primary biliary cholangitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Biliary cirrhosis primary [MedDRA Preferred Term]
- Chronic non-suppurative destructive cholangitis [MedDRA LLT]
- Hanot's cirrhosis [MedDRA LLT]
- Primary Biliary Cholangitis [MeSH concept]
- Primary Biliary Cirrhosis [NCIt concept]
- Primary biliary cholangitis [ORDO Disease]
- Primary biliary cholangitis (disorder) [SNOMED CT concept]
- Primary biliary cirrhosis [ICD-10 Sub-category (who)]
- Primary biliary cirrhosis [MedDRA LLT]
- Primary biliary cirrhosis [ICD-10 Sub-category]
- primary biliary cirrhosis [SNOMED Notion]
- primary biliary cirrhosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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