| Metadata | |
|---|---|
| ID | DOID:0090045 |
| Name | glucose transporter type 1 deficiency syndrome 2 |
| Definition | A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. https://www.omim.org/entry/612126, https://www.ncbi.nlm.nih.gov/pubmed/26336901 |
| Xrefs | |
| SKOS |
exactMatch MIM:612126 exactMatch MESH:C564288 exactMatch ORDO:98811 exactMatch GARD:10541 exactMatch UMLS_CUI:C1842534 |
| Subsets |
DO_rare_slim |
| Synonyms |
childhood-onset GLUT1 deficiency syndrome 2 [EXACT] dystonia 18 [EXACT] DYT18 [EXACT] GLUT1 deficiency syndrome 2 [EXACT] GLUT1DS2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a glucose transporter type 1 deficiency syndrome is_a dystonia |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal dominant inheritance |