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Human Disease

ischiocoxopodopatellar syndrome

Term ID
DOID:0111382
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
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. (2)
References
Ontology
Human Disease   ( DOID:0111382 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models