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: Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease Show first 5 Terms
has subtype: Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 ... Show All 6 Terms

Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 Charcot-Marie-Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive 4 Charcot-Marie-Tooth disease X-linked recessive 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models