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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 7
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Accession:DOID:0080518 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (DO)
Synonyms:exact_synonym: MGORS7
 primary_id: OMIM:617063
For additional species annotation, visit the Alliance of Genome Resources.


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Meier-Gorlin syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Meier-gorlin syndrome 7 ClinVar
OMIM
PMID:25741868 PMID:27374770 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Musculoskeletal Abnormalities 1670
            Craniofacial Abnormalities 1404
              Maxillofacial Abnormalities 233
                Jaw Abnormalities 221
                  Micrognathism 44
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 7 1
paths to the root