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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


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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 NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416 		JBrowse link
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 chr12:25,323,230...25,781,897
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 19100
    Developmental Disease 14598
      Neurodevelopmental Disorders 6946
        intellectual disability 4382
          Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
paths to the root