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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 Movement Abnormalities, Abnormal Gait, and Autistic Features
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Accession:DOID:9009123 term browser browse the term
Definition:A neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor.
Synonyms:exact_synonym: NEDMAGA
 narrow_synonym: ZSWIM6 RELATED INTELLECTUAL DISABILITY
 primary_id: OMIM:617865
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
ClinVar Annotator: match by term: ZSWIM6 related intellectual disability
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
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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 Movement Abnormalities, Abnormal Gait, and Autistic Features 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
              Neurodevelopmental Disorders 5572
                Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features 1
paths to the root