progressive familial intrahepatic cholestasis 1

Term ID

DOID:0070226

Synonyms

• FIC1 deficiency
• PFIC1

Definition

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/9500542

References

• GARD:9802
• MESH:C535933
• OMIM:211600
• ORDO:79306

Ontology

Human Disease   ( DOID:0070226 )