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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 OMIM
ClinVar		 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14333
    Pathological Conditions, Signs and Symptoms 11313
      Signs and Symptoms 9506
        Neurologic Manifestations 9201
          Dyskinesias 2040
            Myoclonus 387
              Neonatal Intractable Myoclonus 1
Path 2
Term Annotations click to browse term
  disease 14333
    disease of anatomical entity 14027
      nervous system disease 12344
        central nervous system disease 11065
          brain disease 10383
            movement disease 2390
              Dyskinesias 2040
                Myoclonus 387
                  Neonatal Intractable Myoclonus 1
paths to the root