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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 IAGP ClinVar Annotator: match by term: Myoclonus, intractable, neonatal
ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus		 ClinVar
OMIM		 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    Pathological Conditions, Signs and Symptoms 69213
      Signs and Symptoms 45310
        Neurologic Manifestations 37650
          Dyskinesias 2916
            Myoclonus 504
              Neonatal Intractable Myoclonus 1
Path 2
Term Annotations click to browse term
  disease 146647
    disease of anatomical entity 133718
      nervous system disease 71379
        central nervous system disease 51285
          brain disease 48626
            movement disease 4628
              Dyskinesias 2916
                Myoclonus 504
                  Neonatal Intractable Myoclonus 1
paths to the root