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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:Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
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Accession:DOID:9005747 term browser browse the term
Synonyms:primary_id: RDO:9000674
For additional species annotation, visit the Alliance of Genome Resources.



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Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918
G Caln1 calneuron 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918 NCBI chr12:25,811,743...26,303,670
Ensembl chr12:25,819,628...26,303,344
JBrowse link
G Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918 NCBI chr12:25,323,839...25,780,036
Ensembl chr12:25,322,701...25,781,290
JBrowse link
G Pom121 POM121 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918 NCBI chr12:21,273,713...21,294,299
Ensembl chr12:21,276,913...21,294,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Neurodevelopmental Disorders 5712
        intellectual disability 3473
          Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
paths to the root