ONTOLOGY REPORT - ANNOTATIONS


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
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Meier-Gorlin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp5 bone morphogenetic protein 5 JBrowse link 8 82,669,466 82,950,273 RGD:13592920
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
RGD:7240710
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:7240710
RGD:8554872
RGD:11554173
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:7240710
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:7240710
RGD:8554872
RGD:11554173
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:7240710
RGD:8554872
RGD:11554173
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:7240710
RGD:8554872
RGD:11554173
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
Meier-Gorlin syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm5 minichromosome maintenance complex component 5 JBrowse link 19 14,523,482 14,561,281 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Meier-Gorlin syndrome 10
        Meier-Gorlin syndrome 1 0
        Meier-Gorlin syndrome 2 0
        Meier-Gorlin syndrome 3 0
        Meier-Gorlin syndrome 4 0
        Meier-Gorlin syndrome 5 0
        Meier-Gorlin syndrome 6 0
        Meier-Gorlin syndrome 7 0
        Meier-Gorlin syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  Micrognathism 35
                    Meier-Gorlin syndrome 10
                      Meier-Gorlin syndrome 1 0
                      Meier-Gorlin syndrome 2 0
                      Meier-Gorlin syndrome 3 0
                      Meier-Gorlin syndrome 4 0
                      Meier-Gorlin syndrome 5 0
                      Meier-Gorlin syndrome 6 0
                      Meier-Gorlin syndrome 7 0
                      Meier-Gorlin syndrome 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.