Dystonia 28, Childhood-Onset
Disease ID: disease_node_17274
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.8, MIM:617284, ORDO:589618, UMLS_CUI:C4310633 |
|---|---|
| Subclassof | DOID_0050736, DOID_543 |
| Data Source | DOID |
| Synonyms | DYSTONIA 28, CHILDHOOD-ONSET, DYT28 |
| Doid Label | dystonia 28, childhood-onset |
| Doid Description | A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17274 |
| Doid Id | DOID_0060936 |
| Label | Dystonia 28, Childhood-Onset |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)