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General Information
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| Term |
Charcot-Marie-Tooth disease axonal type 2Q |
ID (Ontology) |
DOID:0110170 (Human Disease) |
| Definition |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. |
| Also Known As |
"autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" ; "autosomal dominant Charcot-Marie-Tooth disease type 2Q" ; "Charcot-Marie-Tooth neuropathy type 2Q" (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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 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 |
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Charcot-Marie-Tooth disease axonal type 2Q | 1 | 1 | for disease ribbon | Charcot-Marie-Tooth disease axonal type 2Q | -- | 1 | model of | Charcot-Marie-Tooth disease axonal type 2Q | 1 | 1 |
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Relationships