RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Unverricht-Lundborg syndrome
Accession: DOID:3535
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Definition: A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. (DO)
Synonyms: exact_synonym: Baltic myoclonic epilepsies; Baltic myoclonic epilepsy; Baltic myoclonus; Baltic myoclonus epilepsies; Baltic myoclonus epilepsy; EPM1; Epilepsy, Progressive Myoclonic 1; Epilepsy, Progressive Myoclonic Type 1; Mediterranean Myoclonic Epilepsy; Myoclonic Epilepsy of Unverricht and Lundborg; ULD; Unverricht Lundborg disease; Unverricht disease; Unverricht diseases; Unverricht's disease; progressive myoclonus epilepsy 1; progressive myoclonus epilepsy of Unverricht and Lundborg
primary_id: MESH:D020194
alt_id: OMIM:254800
xref: GARD:3876 ; NCI:C179710
For additional species annotation, visit the
Alliance of Genome Resources .
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD OMIM ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 More...
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
G
Cstb
cystatin B
ISO
OMIM
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
G
Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29358611 PMID:32214227 More...
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B
ClinVar
PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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