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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:0007641 | Dyschromatopsia |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0008948 | Proximal upper limb amyotrophy |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009046 | Difficulty running |
| HP:0009053 | Distal lower limb muscle weakness |
