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General Information
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| Term |
Shwachman-Diamond syndrome |
ID (Ontology) |
DOID:0060479 (Human Disease) |
| Definition |
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. |
| Also Known As |
"pancreatic insufficiency and bone marrow dysfunction" ; "Shwachman syndrome" ; "Shwachman-Bodian-Diamond syndrome" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 12 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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Shwachman-Diamond syndrome | 12 | 3 | 1 | ameliorates | Shwachman-Diamond syndrome | 7 | -- | -- | exacerbates | Shwachman-Diamond syndrome | 1 | -- | -- | for disease ribbon | Shwachman-Diamond syndrome | -- | 1 | -- | model of | Shwachman-Diamond syndrome | 4 | 1 | -- |
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Relationships