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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:0004302 | Functional motor deficit |
| HP:0005879 | Congenital finger flexion contractures |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0006970 | Periventricular leukomalacia |
| HP:0007002 | Motor axonal neuropathy |
| HP:0007210 | Lower limb amyotrophy |
| HP:0007230 | Decreased distal sensory nerve action potential |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy |
