| Metadata | |
|---|---|
| ID | DOID:0111559 |
| Name | Charcot-Marie-Tooth disease type 2EE |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. https://www.ncbi.nlm.nih.gov/pubmed/26437932, https://www.ncbi.nlm.nih.gov/pubmed/30298599 |
| Xrefs | |
| Synonyms |
Charcot-Marie-Tooth disease, axonal, type 2EE [EXACT] CMT2EE [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |