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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:Neonatal Intractable Myoclonus
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Accession:DOID:9006777 term browser browse the term
Definition:A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. (OMIM)
Synonyms:exact_synonym: KIF5A-RELATED INTRACTABLE NEONATAL MYOCLONUS;   NEIMY
 primary_id: MIM:617235

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Neonatal Intractable Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal OMIM
ClinVar		 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    Pathological Conditions, Signs and Symptoms 11558
      Signs and Symptoms 9741
        Neurologic Manifestations 9432
          Dyskinesias 2069
            Myoclonus 393
              Neonatal Intractable Myoclonus 1
Path 2
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12613
        central nervous system disease 11277
          brain disease 10584
            movement disease 2427
              Dyskinesias 2069
                Myoclonus 393
                  Neonatal Intractable Myoclonus 1
paths to the root