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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:Infantile-Onset Limb and Orofacial Dyskinesia
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Accession:DOID:9004996 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking. (OMIM)
Synonyms:exact_synonym: IOLOD
 primary_id: OMIM:616921


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Infantile-Onset Limb and Orofacial Dyskinesia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde10a phosphodiesterase 10A ISO ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27058446 PMID:28492532 PMID:29159890 PMID:32581362 NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        Neurologic Manifestations 10043
          Dyskinesias 2190
            Infantile-Onset Limb and Orofacial Dyskinesia 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            movement disease 2576
              Dyskinesias 2190
                Hyperkinesis 41
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
paths to the root