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Charcot-Marie-Tooth disease axonal type 2V
Summary
- Synonym
-
- CMT2V
- Charcot-Marie-Tooth neuropathy type 2V
- autosomal dominant Charcot-Marie-Tooth disease type 2V
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110178
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54802 | Alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002360 | Sleep abnormality |
| HP:0012514 | Lower limb pain |
| HP:0002936 | Distal sensory impairment |
| HP:0001265 | Hyporeflexia |
| HP:0003676 | Progressive |
