Charcot-Marie-Tooth Disease Type 2J
Disease ID: disease_node_18861
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G60.0, MIM:607736, ORDO:99943 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050539 |
| Data Source | DOID |
| Synonyms | CMT2J, Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy type 2J |
| Doid Label | Charcot-Marie-Tooth disease type 2J |
| Doid Description | A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18861 |
| Doid Id | DOID_0110157 |
| Label | Charcot-Marie-Tooth Disease Type 2J |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 2(ID:disease_node_18839) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)