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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 6
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Accession:DOID:0080517 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: MGORS6
 primary_id: OMIM:616835
For additional species annotation, visit the Alliance of Genome Resources.


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Meier-Gorlin syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin, DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-gorlin syndrome 6 ClinVar
OMIM
PMID:11477602, PMID:14973488, PMID:26637980 NCBI chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  Micrognathism 46
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 6 1
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.