| Metadata | |
|---|---|
| ID | DOID:0070560 |
| Name | glucose transporter type 1 deficiency syndrome |
| Definition | A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. https://pubmed.ncbi.nlm.nih.gov/31605543/, https://pubmed.ncbi.nlm.nih.gov/36315575/, https://www.ncbi.nlm.nih.gov/books/NBK1430/ |
| Xrefs | |
| SKOS |
exactMatch MESH:C536830 exactMatch MIM:PS606777 exactMatch UMLS_CUI:C1847501 |
| Synonyms |
GLUT1DS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance |