Charcot-Marie-Tooth Disease Type 1G
Disease ID: disease_node_18868
Connections displayed (default: 10).
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| Dbxref | MIM:618279, ORDO:476394 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050538 |
| Data Source | DOID |
| Synonyms | CMT1G, PMP2-related CMT1, PMP2-related Charcot-Marie-Tooth disease type 1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related hereditary motor and sensory neuropathy type 1 |
| Doid Label | Charcot-Marie-Tooth disease type 1G |
| Doid Description | A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18868 |
| Doid Id | DOID_0111560 |
| Label | Charcot-Marie-Tooth Disease Type 1G |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 1(ID:disease_node_18867) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)