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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:Heyn-Sproul-Jackson Syndrome
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Accession:DOID:9005184 term browser browse the term
Synonyms:exact_synonym: HESJAS
 primary_id: MIM:618724


show annotations for term's descendants           Sort by:
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:25741868 PMID:26912663 PMID:28492532 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Pathologic Processes 8259
        Growth Disorders 1021
          Heyn-Sproul-Jackson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal dominant disease 6647
                complex cortical dysplasia with other brain malformations 1634
                  Malformations of Cortical Development, Group I 1394
                    microcephaly 1143
                      Heyn-Sproul-Jackson Syndrome 1
paths to the root