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Charcot-Marie-Tooth disease type 2Y
Summary
- Synonym
-
- CMT2 due to VCP mutation
- CMT2Y
- Charcot-Marie-Tooth neuropathy type 2Y
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
- autosomal dominant axonal Charcot-Marie-Tooth type 2Y
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110168
- Mondo Disease Ontology
- ORDO
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009130 | Hand muscle atrophy |
| HP:0010830 | Impaired tactile sensation |
| HP:0003676 | Progressive |
| HP:0011462 | Young adult onset |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003596 | Middle age onset |
| HP:0011463 | Childhood onset |
