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General Information
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| Term |
Charcot-Marie-Tooth disease type 1G |
ID (Ontology) |
DOID:0111560 (Human Disease) |
| Definition |
A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. |
| Also Known As |
"CMT1G" ; "PMP2-related Charcot-Marie-Tooth disease type 1" ; "PMP2-related Charcot-Marie-Tooth neuropathy type 1" (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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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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Charcot-Marie-Tooth disease type 1G | 1 | for disease ribbon | Charcot-Marie-Tooth disease type 1G | 1 | model of | Charcot-Marie-Tooth disease type 1G | 1 |
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Relationships