progressive familial intrahepatic cholestasis 5

Term ID

DOID:0070225

Synonyms

• NR1H4 deficiency
• PFIC5

Definition

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. https://www.ncbi.nlm.nih.gov/pubmed/26888176

References

• OMIM:617049
• ORDO:480476

Ontology

Human Disease   ( DOID:0070225 )