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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 |
|---|---|---|---|
| 173169 | eif-6 | Eukaryotic translation initiation factor 6 | |
| 178585 | srp-1 | Serpin domain-containing protein | |
| 178672 | srp-3 | Serpin domain-containing protein | |
| 179125 | srp-6 | Serpin domain-containing protein | |
| 179195 | srp-7 | Serpin domain-containing protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001510 | Growth delay |
| HP:0001627 | Abnormal heart morphology |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| HP:0001873 | Thrombocytopenia |
| HP:0001875 | Neutropenia |
| HP:0001876 | Pancytopenia |
| HP:0001882 | Leukopenia |
| HP:0001897 | Normocytic anemia |
| HP:0001903 | Anemia |
