ONTOLOGY REPORT - ANNOTATIONS


Term:Terminal Osseous Dysplasia and Pigmentary Defects
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Accession:DOID:9000162 term browser browse the term
Synonyms:exact_synonym: ODPD;   ODPF;   ODPF syndrome;   TOD;   TODPD;   osseous dysplasia, digital, with facial pigmentary defects and multiple frenula;   terminal osseous dysplasia
 primary_id: MESH:C564554
 alt_id: OMIM:300244;   RDO:0008567;   RDO:0013479
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Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        pigmentation disease 212
          Terminal Osseous Dysplasia and Pigmentary Defects 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Congenital Limb Deformities 343
              Upper Extremity Deformities, Congenital 76
                Congenital Hand Deformities 62
                  Terminal Osseous Dysplasia and Pigmentary Defects 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.