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ONTOLOGY REPORT - ANNOTATIONS


Term:oculodentodigital dysplasia
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Accession:DOID:0060291 term browser browse the term
Definition:A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)
Synonyms:exact_synonym: ODD Syndrome;   ODDD;   ODOD;   Oculo-Dento-Digital Dysplasia;   Oculo-Dento-Osseous Dysplasia;   Oculodentodigital Syndrome;   Oculodentoosseous Dysplasia;   Osseous-Oculo-Dental Dysplasia
 primary_id: MESH:C563160
 alt_id: OMIM:164200;   RDO:0012536
 xref: GARD:7239;   ORDO:2710
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oculodentodigital dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1578474
RGD:8554872
RGD:12910132
RGD:8662400
RGD:8662375
RGD:8662372
RGD:7240710
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      oculodentodigital dysplasia 1
        Oculodentodigital Dysplasia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              dysostosis 307
                synostosis 203
                  syndactyly 42
                    oculodentodigital dysplasia 1
                      Oculodentodigital Dysplasia, Autosomal Recessive 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.