Progressive Familial Intrahepatic Cholestasis 5
Disease ID: disease_node_17767
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| Dbxref | MIM:617049, ORDO:480476 |
|---|---|
| Subclassof | DOID_0070221, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NR1H4 deficiency, PFIC5 |
| Doid Label | progressive familial intrahepatic cholestasis 5 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17767 |
| Doid Id | DOID_0070225 |
| Label | Progressive Familial Intrahepatic Cholestasis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Progressive Familial Intrahepatic Cholestasis(ID:disease_node_17766) (Disease)