Search Ontology:
Human Disease
dystonia 37, early-onset with striatal lesions
- Term ID
- DOID:0060956
- Synonyms
-
- Definition
- A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. https://pubmed.ncbi.nlm.nih.gov/36333996/
- References
- Ontology
- Human Disease ( DOID:0060956 )
Other Pages
Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| NUP54 | Dystonia 37, early-onset, with striatal lesions | dystonia 37, early-onset with striatal lesions | 620427 |
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Zebrafish Models
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