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Charcot-Marie-Tooth disease type 2
Summary
- Synonym
-
- hereditary motor and sensory neuropathy Guadalajara neuronal type
- hereditary motor and sensory neuropathy Okinawa type
- hereditary motor and sensory neuropathy type 2
- Definition
- A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
- Super Class
- Charcot-Marie-Tooth disease
External Links
- Disease Ontology
- DOID:0050539
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36871 | Phosphoglucomutase-1 | |
| P55084 | Trifunctional enzyme subunit beta, mitochondrial | |
| P60891 | Ribose-phosphate pyrophosphokinase 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
