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ONTOLOGY REPORT - ANNOTATIONS


Term:Oto-Palato-Digital Syndrome Type 1
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Accession:DOID:9006729 term browser browse the term
Synonyms:exact_synonym: OPD I SYNDROME;   OPD1;   Opd Syndrome, Type 1;   Otopalatodigital Syndrome Type 1;   Otopalatodigital Syndrome, Type I;   Taybi syndrome
 narrow_synonym: FRONTOOTOPALATODIGITAL OSTEODYSPLASIA;   OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER
 primary_id: MESH:C536065;   RDO:0001485
 alt_id: OMIM:311300
For additional species annotation, visit the Alliance of Genome Resources.


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Oto-Palato-Digital Syndrome Type 1 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
RGD:1598954
RGD:11554173
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      bone development disease 980
        osteochondrodysplasia 406
          Oto-Palato-Digital Syndrome Type 1 2
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Congenital Limb Deformities 409
              Upper Extremity Deformities, Congenital 80
                Congenital Hand Deformities 65
                  Oto-Palato-Digital Syndrome Type 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.