| Metadata | |
|---|---|
| ID | DOID:0050539 |
| Name | Charcot-Marie-Tooth disease type 2 |
| Definition | A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, https://www.ncbi.nlm.nih.gov/pubmed/25098539 |
| Xrefs |
SNOMEDCT_US_2023_03_01:193158000 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary motor and sensory neuropathy Guadalajara neuronal type [EXACT] hereditary motor and sensory neuropathy Okinawa type [EXACT] hereditary motor and sensory neuropathy type 2 [EXACT] |
| Parent Relationships |