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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:0000155 | Oral ulcer |
| HP:0000246 | Sinusitis |
| HP:0000356 | Abnormality of the outer ear |
| HP:0000365 | Hearing impairment |
| HP:0000670 | Carious teeth |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000708 | Atypical behavior |
| HP:0000729 | Autistic behavior |
| HP:0000736 | Short attention span |
| HP:0000819 | Diabetes mellitus |
