Charcot-Marie-Tooth Disease Type 2A2B
Disease ID: disease_node_18866
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| Dbxref | MIM:617087, ORDO:90118 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050539 |
| Data Source | DOID |
| Synonyms | AR-CMT2, Ouvrier type, CMT2A2B, Charcot-Marie-Tooth disease, axonal, type 2A2B, SEOAN due to MFN2 deficiency, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, severe early-onset axonal neuropathy due to MFN2 deficiency |
| Doid Label | Charcot-Marie-Tooth disease type 2A2B |
| Doid Description | A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18866 |
| Doid Id | DOID_0111557 |
| Label | Charcot-Marie-Tooth Disease Type 2A2B |
- 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)