Charcot-Marie-Tooth disease axonal type 2H

Term ID

DOID:0110166

Synonyms

• AR-CMT2C
• autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features
• autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features
• Autosomal recessive axonal CMT4C2
• Axonal Charcot-Marie-Tooth disease with pyramidal involvement
• Charcot-Marie-Tooth disease type 2H
• CMT2H

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. https://www.ncbi.nlm.nih.gov/pubmed/11166163

References

• ICD10CM:G60.0
• MIM:607731
• ORDO:101102

Ontology

Human Disease   ( DOID:0110166 )