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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
arthrogryposis, renal dysfunction, and cholestasis 1
Summary
- Synonym
-
- ARCS1
- Definition
- An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1.
- Super Class
- ARC syndrome
External Links
- Disease Ontology
- DOID:0111353
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P19440 | Glutathione hydrolase 1 proenzyme |
