Search Ontology:
Human Disease

Charcot-Marie-tooth disease axonal type 2MM

Term ID
DOID:0070840
Synonyms
  • CMT2MM
Definition
A Charcot-Marie-Tooth disease type 2 characterized by progressive sensorimotor polyneuropathy with age of onset between the first and fifth decade that has_material_basis_in homozygous or compound heterozygous mutation in the COX18 gene on chromosome 4q13. https://pubmed.ncbi.nlm.nih.gov/40830826/
References
Ontology
Human Disease   ( DOID:0070840 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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