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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
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Accession:DOID:9002328 term browser browse the term
Synonyms:exact_synonym: SMED Type II;   SMED, Short Limb-Abnormal Calcification Type;   SMED, Short Limb-Hand Type;   SMED-SL;   SMED-SL/AC;   Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
 primary_id: MESH:C564794;   RDO:0013638
 alt_id: OMIM:271665
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Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddr2 discoidin domain receptor tyrosine kinase 2 JBrowse link 13 88,311,639 88,436,561 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      endocrine system disease 4789
        Dwarfism 307
          Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 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.