Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
go back to main search page
Accession:DOID:9006288 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism
Synonyms:exact_synonym: IDLDP;   NR4A2-RELATED CONDITION
 primary_id: MIM:619911



show annotations for term's descendants           Sort by:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition OMIM
ClinVar
PMID:23066323 PMID:25741868 PMID:28492532 PMID:29758562 PMID:29770430 More... NCBI chr 3:41,689,847...41,707,036 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Language Development Disorders 74
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  communication disorder 421
                    language disorder 172
                      Language Development Disorders 74
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM 1
paths to the root