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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 or without Hyperkinetic Movements and Seizures, Autosomal Recessive
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Accession:DOID:9009115 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. (OMIM)
Synonyms:exact_synonym: NDHMSR;   autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures
 narrow_synonym: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
 primary_id: OMIM:617820
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:26350515 PMID:27164704 PMID:28051072 PMID:28492532 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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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 or without Hyperkinetic Movements and Seizures, Autosomal Recessive 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 or without Hyperkinetic Movements and Seizures, Autosomal Recessive 1
paths to the root