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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:31201375 NCBI chr 1:64,130,823...64,147,066
Ensembl chr 1:64,130,908...64,147,251
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Language Development Disorders 73
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            disease of mental health 5991
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  communication disorder 204
                    language disorder 123
                      Language Development Disorders 73
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
paths to the root