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Charcot-Marie-Tooth disease dominant intermediate B
Summary
- Synonym
-
- CMTDI1
- CMTDIB
- Charcot-Marie-Tooth neuropathy dominant intermediate B
- DI-CMTB
- Definition
- A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).
- Super Class
- Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110197
- MeSH
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21576 | Vacuolar protein sorting-associated protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001284 | Areflexia |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0002460 | Distal muscle weakness |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001761 | Pes cavus |
| HP:0002936 | Distal sensory impairment |
| HP:0001265 | Hyporeflexia |
| HP:0003621 | Juvenile onset |
| HP:0003383 | Onion bulb formation |
| HP:0007107 | Segmental peripheral demyelination |
