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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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal ClinVar
OMIM		 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chr11:53,458,795...53,493,801 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    Pathological Conditions, Signs and Symptoms 12056
      Signs and Symptoms 10132
        Neurologic Manifestations 9810
          Dyskinesias 2138
            Myoclonus 403
              Neonatal Intractable Myoclonus 1
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      nervous system disease 13225
        central nervous system disease 11812
          brain disease 11082
            movement disease 2513
              Dyskinesias 2138
                Myoclonus 403
                  Neonatal Intractable Myoclonus 1
paths to the root