Charcot-Marie-Tooth Disease Type 2Dd
Disease ID: disease_node_18865
Connections displayed (default: 10).
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| Dbxref | MIM:618036, ORDO:521414 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050539 |
| Data Source | DOID |
| Synonyms | ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD, Charcot-Marie-Tooth disease, axonal, type 2DD, Charcot-Marie-Tooth neuropathy, type 2DD |
| Doid Label | Charcot-Marie-Tooth disease type 2DD |
| Doid Description | A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18865 |
| Doid Id | DOID_0111558 |
| Label | Charcot-Marie-Tooth Disease Type 2Dd |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease)