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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:0009129 | Upper limb amyotrophy |
| HP:0009473 | Joint contracture of the hand |
| HP:0010830 | Impaired tactile sensation |
| HP:0012378 | Fatigue |
| HP:0012444 | Brain atrophy |
| HP:0012447 | Abnormal myelination |
| HP:0012473 | Tongue atrophy |
| HP:0012785 | Flexion contracture of finger |
| HP:0100290 | Abnormality of peripheral somatosensory evoked potentials |
| HP:0002311 | Incoordination |
