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DOID:0111382 - ischiocoxopodopatellar syndrome
Disease Ontology 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.
Synonyms: congenital coxa vara, patella aplasia and tarsal synostosis, coxopodipatellar syndrome, coxo-podo-patellar 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
Xenbase Genes
:
tbx4
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
dysostosis (is_a)