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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:0001909 | Leukemia |
| HP:0001915 | Aplastic anemia |
| HP:0001972 | Macrocytic anemia |
| HP:0002090 | Pneumonia |
| HP:0002240 | Hepatomegaly |
| HP:0002570 | Steatorrhea |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0002630 | Fat malabsorption |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002721 | Immunodeficiency |
