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General Information
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| Term |
immunodeficiency 31C |
ID (Ontology) |
DOID:0111946 (Human Disease) |
| Definition |
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. |
| Also Known As |
"autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" ; "autosomal dominant chronic mucocutaneous familial candidiasis" ; "autosomal dominant immunodeficiency 31C" (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 31C | 1 | for disease ribbon | immunodeficiency 31C | 1 | model of | immunodeficiency 31C | 1 |
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Relationships