ONTOLOGY REPORT - ANNOTATIONS


Term:GEMSS Syndrome
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Accession:DOID:9001464 term browser browse the term
Synonyms:exact_synonym: GEMMS;   Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome;   Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome;   Spherophakia Brachymorphia Syndrome;   WMS2;   Weill Marchesani Syndrome 2;   Weill Marchesani Syndrome, Autosomal Dominant
 primary_id: MESH:C537679
 alt_id: OMIM:608328;   RDO:0003560
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GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      Weill-Marchesani syndrome 6
        GEMSS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          eye and adnexa disease 1995
            eye disease 1995
              lens disease 190
                lens subluxation 5
                  Ectopia Lentis 4
                    GEMSS Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.