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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
 primary_id: OMIM:618425
For additional species annotation, visit the Alliance of Genome Resources.


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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: Neurodevelopmental disorder with impaired speech and hyperkinetic movements
OMIM
ClinVar
PMID:25741868 PMID:31036918 NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      speech disorder 66
                        Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root