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Charcot-Marie-Tooth disease type 2B
Summary
- Synonym
-
- CMT2B
- Charcot-Marie-Tooth neuropathy type 2B
- HMSN IIB
- HMSN2B
- autosomal dominant Charcot-Marie-Tooth disease type 2B
- hereditary motor and sensory nueropathy IIB
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110159
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51149 | Ras-related protein Rab-7a |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003621 | Juvenile onset |
| HP:0003438 | Absent Achilles reflex |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002380 | Fasciculations |
| HP:0003378 | Axonal degeneration/regeneration |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0001761 | Pes cavus |
