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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:Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
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Accession:DOID:9000239 term browser browse the term
Definition:Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate. NEDISHM is caused by homozygous or compound heterozygous mutation in the ZNF142 gene on chromosome 2q35. (OMIM)
Synonyms:exact_synonym: NEDISHM;   ZNF142-RELATED CONDITION
 primary_id: MIM:618425


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Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition OMIM
ClinVar		 PMID:25741868 PMID:27066578 PMID:30389958 PMID:31036918 PMID:31345219 More... NCBI chr 9:83,591,318...83,613,896
Ensembl chr 9:83,591,318...83,613,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  communication disorder 433
                    speech disorder 88
                      Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root