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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z2Z2 | Elongation factor-like GTPase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002750 | Delayed skeletal maturation |
| HP:0002754 | Osteomyelitis |
| HP:0002863 | Myelodysplasia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0002953 | Vertebral compression fracture |
| HP:0003016 | Metaphyseal widening |
| HP:0003025 | Metaphyseal irregularity |
| HP:0004322 | Short stature |
| HP:0004395 | Malnutrition |
| HP:0004429 | Recurrent viral infections |
