progressive familial intrahepatic cholestasis 2

Term ID

DOID:0070222

Synonyms

• BSEP deficiency
• PFIC2

Definition

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/9806540

References

• GARD:1288
• MESH:C535934
• OMIM:601847
• ORDO:79304
• SNOMEDCT_US_2023_03_01:1155841005
• UMLS_CUI:C3489789

Ontology

Human Disease   ( DOID:0070222 )