ischiocoxopodopatellar syndrome (DOID:0111382)
Alliance: disease page
Synonyms: congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis; Scott-Taor syndrome; small patella syndrome; SPS
Alt IDs: OMIM:147891, MESH:C535540, MESH:C536307, ORDO:1509, UMLS_CUI:C1840061, UMLS_CUI:C1868581
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 the TBX4 gene on chromosome 17q23.2.