Terminology Service for NFDI4Health
Troyer syndrome
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http://purl.obolibrary.org/obo/DOID_0050886
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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Troyer syndrome
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
Subsets
DO_FlyBase_slim
created by
lschriml
creation date
2014-08-07T12:18:56Z
has obo namespace
disease_ontology
id
DOID:0050886