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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 chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  Micrognathism 49
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 6 1
paths to the root