Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Vocal Cord Paresis
Disease ID: disease_node_18837
Connections displayed (default: 10).
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| Dbxref | MIM:607706 |
|---|---|
| Subclassof | DOID_0050541, DOID_0050737 |
| Data Source | DOID |
| Doid Label | autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis |
| Doid Description | A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18837 |
| Doid Id | DOID_0051028 |
| Label | Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Vocal Cord Paresis |
- Outgoing r'ship
SUBCLASS_OFto/from Charcot-Marie-Tooth Disease Type 4(ID:disease_node_18827) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)