Charcot-Marie-Tooth disease type 4J

Term ID

DOID:0110184

Synonyms

• autosomal recessive Charcot-Marie-Tooth disease type 4J
• CMT4J

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/17572665

References

• ICD10CM:G60.0
• OMIM:611228
• ORDO:139515

Ontology

Human Disease   ( DOID:0110184 )