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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, Autism, and Dysmorphic Facies
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Accession:DOID:9008787 term browser browse the term
Synonyms:exact_synonym: IDDSADF
 primary_id: OMIM:618672
 xref: EFO:0010653

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Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot3 CCR4-NOT transcription complex subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29758562 PMID:31201375 PMID:32720325 NCBI chrNW_004955604:109,522...122,001
Ensembl chrNW_004955604:109,340...122,001 		JBrowse link
G Leng1 leukocyte receptor cluster member 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:29758562 NCBI chrNW_004955604:106,509...109,564 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Language Development Disorders 62
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  communication disorder 364
                    language disorder 151
                      Language Development Disorders 62
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
paths to the root