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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
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Accession:DOID:9005400 term browser browse the term
Synonyms:exact_synonym: SMD-CRD;   SMDCRD
 primary_id: MESH:C563825;   RDO:0012986
 alt_id: OMIM:608940
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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcyt1a phosphate cytidylyltransferase 1, choline, alpha JBrowse link 11 71,547,865 71,592,037 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      bone development disease 1008
        osteochondrodysplasia 414
          Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          eye and adnexa disease 2268
            eye disease 2268
              retinal disease 723
                retinal degeneration 412
                  fundus dystrophy 270
                    retinitis pigmentosa 247
                      Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.