WormBase Tree Display for DO_term: DOID:0070223
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| DOID:0070223 | Name | progressive familial intrahepatic cholestasis 3 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. | ||||
| Synonym | Exact | MDR3 deficiency | |||
| PFIC3 | |||||
| progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0070221 | |||||
| DB_info | Database | OMIM | disease | 602347 | |
| Attribute_of | Gene_by_orthology (11) |
