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General Information
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| Term |
immunodeficiency 47 |
ID (Ontology) |
DOID:0112002 (Human Disease) |
| Definition |
A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. |
| Also Known As |
"CDG IIs" ; "CDG2S" ; "CDGIIs" (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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No relevant records available
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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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| Genes |
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immunodeficiency 47 | 3 | for disease ribbon | immunodeficiency 47 | 3 | model of | immunodeficiency 47 | 3 |
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Relationships