Charcot-Marie-Tooth Disease Axonal Type 2S
Disease ID: disease_node_18849
Connections displayed (default: 10).
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| Dbxref | MIM:616155, ORDO:443073 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2S, Charcot-Marie-Tooth disease type 2S, Charcot-Marie-Tooth neuropathy type 2S, autosomal recessive axonal Charcot-Marie-Tooth type 2S |
| Doid Label | Charcot-Marie-Tooth disease axonal type 2S |
| Doid Description | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18849 |
| Doid Id | DOID_0110171 |
| Label | Charcot-Marie-Tooth Disease Axonal Type 2S |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)