OBO ID: DOID:0111452 |
Term Name: | progressive myoclonus epilepsy 1A | Search Ontology: | |
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Synonyms: |
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Definition: | An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/8596935 | ||
References: | |||
Ontology: | Human Disease ( DOID:0111452 ) |
OTHER progressive myoclonus epilepsy 1A PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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