Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type X

Term ID
DOID:0050542
Synonyms
  • Cowchock syndrome
Definition
A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
References
  • ORDO:64747
Ontology
Human Disease   ( DOID:0050542 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models