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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 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              retinal disease 716
                retinal degeneration 408
                  fundus dystrophy 265
                    retinitis pigmentosa 242
                      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.