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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 1
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Accession:DOID:0080512 term browser browse the term
Definition:A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)
Synonyms:exact_synonym: MGORS1
 primary_id: OMIM:224690
For additional species annotation, visit the Alliance of Genome Resources.



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Meier-Gorlin syndrome 1 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 1 ClinVar PMID:25741868 PMID:28492532 PMID:31474763 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 OMIM
ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Musculoskeletal Abnormalities 2775
            Craniofacial Abnormalities 2343
              Maxillofacial Abnormalities 285
                Jaw Abnormalities 238
                  Micrognathism 51
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 1 3
paths to the root