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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 4
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Accession:DOID:0080515 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: MGORS4
 primary_id: OMIM:613804
For additional species annotation, visit the Alliance of Genome Resources.



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Meier-Gorlin syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar
PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Congenital Abnormalities 6693
          Musculoskeletal Abnormalities 2713
            Craniofacial Abnormalities 2322
              Maxillofacial Abnormalities 282
                Jaw Abnormalities 235
                  Micrognathism 51
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 4 1
paths to the root