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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: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 |
