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
Disease Ontology
DOID:0111206
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1409 CRYAA crystallin alpha A
26353 HSPB8 heat shock protein family B (small) member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
12954 Cryaa crystallin, alpha A
Displaying 1 entry
Gene ID Gene Symbol Description Source
24273 Cryaa crystallin, alpha A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024