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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
 broad_synonym: PDE10A-RELATED CONDITION
 primary_id: MIM: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 | ClinVar Annotator: match by term: PDE10A-related condition OMIM
ClinVar
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 More... NCBI chr 1:53,457,781...54,049,735
Ensembl chr 1:53,462,979...53,801,966
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        Neurologic Manifestations 9992
          Dyskinesias 2169
            Infantile-Onset Limb and Orofacial Dyskinesia 1
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        central nervous system disease 12072
          brain disease 11337
            movement disease 2552
              Dyskinesias 2169
                Hyperkinesis 38
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
paths to the root