FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Lafora disease ID (Ontology) DOID:3534 (Human Disease)
Definition A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Also Known As "Lafora Progressive Myoclonic Epilepsy" ; "Lafora's disease" ; "MYOCLONIC EPILEPSY OF LAFORA"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 Lafora disease       2      2
 model of | Lafora disease       2       --
Spanning Tree (Parents/Children)
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variable age at onset electroclinical syndrome
 |__progressive myoclonus epilepsy__
autosomal genetic disease           |
 |__autosomal recessive disease_____|
                                    Lafora disease  4 rec.
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Is a autosomal recessive disease
progressive myoclonus epilepsy
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Synonyms
  • "Lafora Progressive Myoclonic Epilepsy" EXACT
    "Lafora's disease" EXACT
    "MYOCLONIC EPILEPSY OF LAFORA" EXACT
Secondary IDs
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GARD:8214
MESH:D020192
MIM:254780
NCI:C84804
SNOMEDCT_US_2023_03_01:230425004
UMLS_CUI:C0751783