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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
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Accession:DOID:0060306 term browser browse the term
Definition:A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO)
Synonyms:exact_synonym: EPS;   ear, patella, short stature syndrome;   microtia, absent patellae, micrognathia syndrome
 primary_id: MESH:C538012
 alt_id: RDO:0003944
 xref: GARD:2033;   OMIM:PS224690;   ORDO:2554
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Meier-Gorlin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 ISS OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 8:76,517,164...76,639,925
Ensembl chr 8:76,517,164...76,639,925
JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:31784481 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Gmnn geminin, DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 9:23,219,169...23,237,314
Ensembl chr 9:23,219,169...23,237,314
JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 PMID:25741868 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 ClinVar
OMIM
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
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 ClinVar
OMIM
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 More... NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar
OMIM
PMID:7710253 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21358632 More... NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 ClinVar
OMIM
PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 ClinVar
OMIM
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
JBrowse link
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
JBrowse link
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 chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 8
ClinVar Annotator: match by term: Meier-Gorlin syndrome 8
ClinVar
OMIM
PMID:25741868 PMID:28198391 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Meier-Gorlin syndrome 13
        Meier-Gorlin syndrome 1 2
        Meier-Gorlin syndrome 2 1
        Meier-Gorlin syndrome 3 2
        Meier-Gorlin syndrome 4 1
        Meier-Gorlin syndrome 5 1
        Meier-Gorlin syndrome 6 1
        Meier-Gorlin syndrome 7 1
        Meier-Gorlin syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        Congenital Abnormalities 5589
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  Micrognathism 49
                    Meier-Gorlin syndrome 13
                      Meier-Gorlin syndrome 1 2
                      Meier-Gorlin syndrome 2 1
                      Meier-Gorlin syndrome 3 2
                      Meier-Gorlin syndrome 4 1
                      Meier-Gorlin syndrome 5 1
                      Meier-Gorlin syndrome 6 1
                      Meier-Gorlin syndrome 7 1
                      Meier-Gorlin syndrome 8 1
paths to the root