Charcot-Marie-Tooth disease recessive intermediate A

Term ID

DOID:0110201

Synonyms

• autosomal recessive intermediate Charcot-Marie-Tooth disease type A
• Charcot-Marie-Tooth neuropathy recessive intermediate A
• CMTRIA
• RI-CMTA

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/12499475

References

• MESH:C564256
• MIM:608340
• ORDO:217055

Ontology

Human Disease   ( DOID:0110201 )