Troyer Syndrome
Disease ID: disease_node_16680
Connections displayed (default: 10).
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| Dbxref | GARD:5372, ICD10CM:G11.4, MIM:275900, ORDO:101000 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG20, autosomal recessive spastic paraplegia 20, autosomal recessive spastic paraplegia Troyer type, autosomal recessive spastic paraplegia type 20, childhood-onset spastic paraparesis with distal muscle wasting, hereditary spastic paraplegia 20, spastic paraplegia 20, spastic paraplegia type 20 |
| Doid Label | Troyer syndrome |
| Doid Description | A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16680 |
| Doid Id | DOID_0050886 |
| Label | Troyer Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease)