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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 HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
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Accession:DOID:9005460 term browser browse the term
Definition:A disease that is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication.
Synonyms:exact_synonym: NEDHAHM
 primary_id: OMIM:618760


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NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements OMIM
ClinVar		 PMID:25741868 PMID:30929742 NCBI chr12:53,378,407...53,382,243
Ensembl chr12:53,378,409...53,382,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17420
    Developmental Disease 17269
      Neurodevelopmental Disorders 6641
        NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
Path 2
Term Annotations click to browse term
  disease 17420
    disease of anatomical entity 14883
      nervous system disease 12972
        central nervous system disease 11621
          brain disease 10911
            disease of mental health 7891
              developmental disorder of mental health 5357
                pervasive developmental disorder 2307
                  autism spectrum disorder 2292
                    autistic disorder 1793
                      NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 1
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