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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 8:82,669,466...82,950,273
Ensembl chr 8:82,878,941...82,950,273
JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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 chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
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, PMID:25741868 NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
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 chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783
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, PMID:21358633, PMID:22333897, PMID:22855792, PMID:23023959, PMID:23516378, PMID:24033266, PMID:25689043 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631, PMID:21358632 NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685
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 chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, PMID:21358632, PMID:21358633, PMID:22333897, PMID:22689986, PMID:22855792, PMID:23023959, PMID:23516378, PMID:24033266, PMID:25689043, PMID:25741868, PMID:28492532 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
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, PMID:25741868, PMID:28492532 NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685
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:18414213, PMID:21358632, PMID:22333897, PMID:25741868 NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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:18414213, PMID:21358631, PMID:21358632, PMID:22333897, PMID:23023959, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
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 chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
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 chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783
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 chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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
OMIM
PMID:28198391 NCBI chr19:14,523,482...14,561,281
Ensembl chr19:14,523,554...14,561,278
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 1 1
        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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  Micrognathism 46
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 1 1
                      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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.