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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:progressive myoclonus epilepsy 3
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Accession:DOID:0111446 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21. (DO)
Synonyms:exact_synonym: CLN14;   CLN14 disease;   EPM3;   Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions;   PME type 3;   Progressive Myoclonic Epilepsy 3;   Progressive myoclonic epilepsy due to KCTD7 deficiency;   neuronal ceroid lipofuscinosis 14;   progressive myoclonus epilepsy type 3
 narrow_synonym: EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS
 primary_id: MESH:C567095
 alt_id: OMIM:611726
 xref: GARD:2167;   ORDO:263516
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by OMIM:611726
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
OMIM
ClinVar
PMID:2274208, PMID:15778103, PMID:17455289, PMID:18414213, PMID:19084560, PMID:21710140, PMID:22606975, PMID:22638565, PMID:22693283, PMID:22748208, PMID:25060828, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26795593, PMID:27742667, PMID:28492532, PMID:29056246, PMID:30295347, PMID:30500434, PMID:32581362 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      electroclinical syndrome 395
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 49
            progressive myoclonus epilepsy 3 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Myoclonus 90
                  Myoclonic Epilepsies 82
                    progressive myoclonus epilepsy 49
                      progressive myoclonus epilepsy 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.