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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:GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
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Accession:DOID:9004585 term browser browse the term
Definition:This is a disease characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD.
Synonyms:exact_synonym: GDSBA;   TNRC6B-RELATED CONDITION
 primary_id: OMIM:619243

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GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl2 ADAMTS like 2 ISO Geleophysic dysplasia, ADMATSL2-related OMIA PMID:20862248 PMID:28158899 NCBI chrNW_004936669:3,363,991...3,397,099
Ensembl chrNW_004936669:3,363,867...3,397,402 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities | ClinVar Annotator: match by term: TNRC6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29463886 PMID:32152250 PMID:33004838 NCBI chrNW_004936492:1,461,572...1,697,500
Ensembl chrNW_004936492:1,461,533...1,631,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6302
        Developmental Disabilities 754
          GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  communication disorder 368
                    language disorder 153
                      speech disorder 80
                        GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES 2
paths to the root