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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:0001256 | Intellectual disability, mild |
| HP:0001518 | Small for gestational age |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002719 | Recurrent infections |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0003411 | Proximal femoral metaphyseal irregularity |
| HP:0002098 | Respiratory distress |
| HP:0006598 | Irregular ossification at anterior rib ends |
| HP:0001263 | Global developmental delay |
| HP:0002812 | Coxa vara |
