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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
progressive familial intrahepatic cholestasis 3
Summary
- Synonym
-
- MDR3 deficiency
- PFIC3
- progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
- 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.
- Super Class
- autosomal recessive disease progressive familial intrahepatic cholestasis
External Links
- Disease Ontology
- DOID:0070223
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21439 | Phosphatidylcholine translocator ABCB4 |
