WormBase Tree Display for DO_term: DOID:0070224
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| DOID:0070224 | Name | progressive familial intrahepatic cholestasis 4 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. | ||||
| Synonym | Exact | PFIC4 | |||
| TJP2 deficit | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0070221 | |||||
| DB_info | Database | OMIM | disease | 615878 | |
| Attribute_of | Gene_by_orthology | WBGene00013683 |
