Search Ontology:
Human Disease

Charcot-Marie-tooth disease axonal type 2LL

Term ID
DOID:0070839
Synonyms
  • CMT2LL
Definition
A Charcot-Marie-Tooth disease type 2 characterized by childhood-onset progressive gait difficulties, distal muscle weakness and atrophy, and areflexia that has_material_basis_in compound heterozygous mutation in the DARS2 gene, encoding mitochondrial aspartyl-tRNA synthetase, on chromosome 1q25. https://pubmed.ncbi.nlm.nih.gov/40814755/
References
Ontology
Human Disease   ( DOID:0070839 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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