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General Information
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| Term |
Wolfram syndrome 2 |
ID (Ontology) |
DOID:0110630 (Human Disease) |
| Definition |
An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. |
| Also Known As |
"WFS2" |
| 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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| 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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| Genes | Human Disease Models |
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Wolfram syndrome 2 | 1 | 1 | for disease ribbon | Wolfram syndrome 2 | 1 | -- | model of | Wolfram syndrome 2 | 1 | -- |
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Relationships