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MIRAGE
Charcot-Marie-Tooth disease axonal type 2Z
Summary
- Synonym
-
- CMT2Z
- Charcot-Marie-Tooth neuropathy type 2Z
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110181
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6X9 | ATPase MORC2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003324 | Generalized muscle weakness |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003394 | Muscle spasm |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003487 | Babinski sign |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003797 | Limb-girdle muscle atrophy |
