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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 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Caln1 calneuron 1 ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918 NCBI chr12:29,307,117...29,796,996
Ensembl chr12:29,308,341...29,743,705
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 chr12:28,381,879...29,268,457
Ensembl chr12:28,381,982...29,268,073
JBrowse link
G Pom121 POM121 transmembrane nucleoporin ISO ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability ClinVar PMID:23332918 NCBI chr12:24,316,575...24,341,943
Ensembl chr12:24,324,590...24,341,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.