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General Information
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| Term |
Charcot-Marie-Tooth disease type 2A2B |
ID (Ontology) |
DOID:0111557 (Human Disease) |
| Definition |
A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. |
| Also Known As |
"AR-CMT2, Ouvrier type" ; "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" ; "Charcot-Marie-Tooth disease, axonal, type 2A2B" (for all, see Synonyms field below) |
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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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Charcot-Marie-Tooth disease type 2A2B | 2 | 1 | for disease ribbon | Charcot-Marie-Tooth disease type 2A2B | 2 | -- | model of | Charcot-Marie-Tooth disease type 2A2B | 2 | -- |
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Relationships