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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:DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
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Accession:DOID:9000526 term browser browse the term
Definition:This disease is characterized by global developmental delay apparent from early childhood with intellectual disability.
Synonyms:exact_synonym: DDISBA;   SPTBN1-RELATED CONDITION
 primary_id: MIM:619475


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DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities | ClinVar Annotator: match by term: SPTBN1-related condition OMIM
ClinVar		 PMID:25741868 PMID:33847457 PMID:34211179 NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Neurodevelopmental Disorders 6902
        intellectual disability 4379
          DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          brain disease 11791
            disease of mental health 8376
              developmental disorder of mental health 5602
                specific developmental disorder 4599
                  communication disorder 414
                    language disorder 166
                      speech disorder 84
                        DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES 1
paths to the root