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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Shwachman-Diamond syndrome
Summary
- Synonym
-
- Shwachman syndrome
- Shwachman-Bodian-Diamond syndrome
- Shwachman-Diamond type metaphyseal dysplasia
- pancreatic insufficiency and bone marrow dysfunction
- Definition
- A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060479
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 4069 | LYZ | lysozyme | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35354 | Prostaglandin G/H synthase 2 | |
| P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN | |
| P61626 | Lysozyme C |
