| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |