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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:Meier-Gorlin syndrome 2
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Accession:DOID:0080513 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: MGORS2
 primary_id: OMIM:613800
For additional species annotation, visit the Alliance of Genome Resources.



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Meier-Gorlin syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 OMIM
ClinVar
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 More... NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    syndrome 9705
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        Congenital Abnormalities 6764
          Musculoskeletal Abnormalities 2775
            Craniofacial Abnormalities 2344
              Maxillofacial Abnormalities 284
                Jaw Abnormalities 237
                  Micrognathism 51
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 2 1
paths to the root