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DO Term : ischiocoxopodopatellar syndrome [DOID:0111382] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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 the TBX4 gene on chromosome 17q23.2.
  • synonyms:
  • 147891,
  • SNOMEDCT_US_2023_03_01:720752007,
  • small patella syndrome,
  • ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension,
  • OMIM:147891,
  • ORDO:1509,
  • GARD:3030,
  • patella aplasia, coxa vara, and tarsal synostosis,
  • UMLS_CUI:C1868581,
  • UMLS_CUI:C1840061,
  • MESH:C535540,
  • ischiopatellar dysplasia,
  • coxo-podo-patellar syndrome,
  • congenital coxa vara, patella aplasia and tarsal synostosis,
  • MESH:C536307,
  • coxopodipatellar syndrome,
  • Scott-Taor syndrome,
  • SPS
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