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ONTOLOGY REPORT - ANNOTATIONS


Term:ischiocoxopodopatellar syndrome
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Accession:DOID:0111382 term browser browse the term
Definition:A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2. (DO)
Synonyms:exact_synonym: ICPPS;   SPS;   Scott-Taor syndrome;   congenital coxa vara, patella aplasia and tarsal synostosis;   coxo-podo-patellar syndrome;   coxopodipatellar syndrome;   coxopodopatellar syndrome;   ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension;   ischiopatellar dysplasia;   patella aplasia, coxa vara, and tarsal synostosis;   patella aplasia, coxa vara, tarsal synostosis;   small patella syndrome
 primary_id: MESH:C535540;   MESH:C536307
 alt_id: DOID:9007929;   OMIM:147891
 xref: GARD:3030;   ORDO:1509
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ischiocoxopodopatellar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx4 T-box transcription factor 4 JBrowse link 10 73,331,864 73,362,784 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        Musculoskeletal Abnormalities 1341
          synostosis 205
            ischiocoxopodopatellar syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2796
          bone disease 2247
            Bone Malalignment 3
              Bone Anteversion 3
                Coxa Vara 3
                  ischiocoxopodopatellar syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.