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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:0006858 | Impaired distal proprioception |
| HP:0001265 | Hyporeflexia |
| HP:0001171 | Split hand |
| HP:0003621 | Juvenile onset |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0003438 | Absent Achilles reflex |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0001763 | Pes planus |
| HP:0001252 | Hypotonia |
| HP:0002650 | Scoliosis |
