Search Ontology:
Human Disease

Charcot-Marie-Tooth disease recessive intermediate D

Term ID
DOID:0110203
Synonyms
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type D
  • CMTRID
  • RI-CMT type D
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25152455
References
Ontology
Human Disease   ( DOID:0110203 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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