Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
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 OMIM
PMID:25741868 PMID:27374770 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Craniofacial Abnormalities 2387
              Maxillofacial Abnormalities 289
                Jaw Abnormalities 242
                  Micrognathism 51
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 7 1
paths to the root