Metadata | |
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ID | DOID:0110184 |
Name | Charcot-Marie-Tooth disease type 4J |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive Charcot-Marie-Tooth disease type 4J [EXACT] CMT4J [EXACT] |
Parent Relationships |