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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
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002355 | Difficulty walking |
| HP:0002380 | Fasciculations |
| HP:0002411 | Myokymia |
| HP:0002460 | Distal muscle weakness |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002540 | Inability to walk |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0003130 | Abnormal peripheral myelination |
