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autosomal dominant distal hereditary motor neuronopathy 2
Summary
- Synonym
-
- HMN II
- HMN IIA
- HMN2
- HMN2A
- autosomal dominant adult spinal muscular atrophy IIA
- distal hereditary motor neuronopathy type 2
- distal hereditary motor neuronopathy type 2A
- distal hereditary motor neuropathy type II
- distal hereditary motor neuropathy type IIA
- spinal Charcot-Marie-Tooth disease IIA
- Definition
- An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life.
- Super Class
- autosomal dominant distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111206
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6P1J6 | Phospholipase B1, membrane-associated |
