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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: CNOT3-RELATED CONDITION;   IDDSADF
 primary_id: MIM:618672
 xref: EFO:0010653


show annotations for term's descendants           Sort by:
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: CNOT3-related condition | 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 More... NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167 		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:25741868 PMID:29758562 NCBI chr 1:65,551,983...65,556,915
Ensembl chr 1:65,551,983...65,556,915 		JBrowse link
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr 1:65,525,206...65,539,538
Ensembl chr 1:65,525,213...65,539,538 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873 		JBrowse link
G Tmc4 transmembrane channel-like 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies ClinVar PMID:25741868 NCBI chr 1:65,539,777...65,551,683
Ensembl chr 1:65,539,721...65,551,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Language Development Disorders 74
        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 5
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              developmental disorder of mental health 5641
                specific developmental disorder 4605
                  communication disorder 421
                    language disorder 171
                      Language Development Disorders 74
                        Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 5
paths to the root