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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:0000824 | Decreased response to growth hormone stimulation test |
| HP:0000886 | Deformed rib cage |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000938 | Osteopenia |
| HP:0000964 | Eczematoid dermatitis |
| HP:0000988 | Skin rash |
| HP:0001167 | Abnormal finger morphology |
| HP:0001249 | Intellectual disability |
| HP:0001367 | Abnormal joint morphology |
| HP:0001508 | Failure to thrive |
