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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;   ORC4-RELATED CONDITION
 primary_id: MIM:613800

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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 | ClinVar Annotator: match by term: ORC4-related condition OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chrNW_004624866:626,556...716,725
Ensembl chrNW_004624866:622,859...716,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    syndrome 9724
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14229
    Developmental Disease 12518
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11792
        Congenital Abnormalities 7168
          Musculoskeletal Abnormalities 3241
            Craniofacial Abnormalities 2612
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 262
                  Micrognathism 55
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 2 1
paths to the root