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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:ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
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Accession:DOID:9006671 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities.
Synonyms:exact_synonym: ATITHS;   POU4F1-RELATED CONDITION;   childhood-onset ataxia, intention tremor, and hypotonia syndrome
 primary_id: MIM:619352



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ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition OMIM
ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914 NCBI chr15:81,253,714...81,260,057 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          Dyskinesias 2234
            Ataxia 957
              ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            movement disease 2633
              Dyskinesias 2234
                Ataxia 957
                  ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
paths to the root