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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
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Accession:DOID:9009214 term browser browse the term
Synonyms:exact_synonym: IDDSFTA
 broad_synonym: BCL11B-RELATED BAFOPATHY;   BCL11B-RELATED CONDITION
 primary_id: OMIM:618092


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11B BCL11 transcription factor B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities OMIM
ClinVar		 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32659295 More... NCBI chr 8:67,622,592...67,713,922
Ensembl chr 8:67,622,708...67,714,404 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Language Development Disorders 64
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              developmental disorder of mental health 5495
                specific developmental disorder 4468
                  communication disorder 386
                    language disorder 157
                      Language Development Disorders 64
                        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
paths to the root