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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 or without hyperkinetic movements and seizures, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:26350515 PMID:26467025 PMID:27164704 PMID:28051072 More... NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17941
    Developmental Disease 12578
      Neurodevelopmental Disorders 5956
        Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17941
    disease of anatomical entity 17296
      nervous system disease 12917
        central nervous system disease 11044
          brain disease 10315
            disease of mental health 7310
              Neurodevelopmental Disorders 5956
                Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive 1
paths to the root