OBO ID: DOID:0111382
Term Name: ischiocoxopodopatellar syndrome Search Ontology:
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 TBX4 on chromosome 17q23.2. (2)
References:
Ontology: Human Disease   (DOID:0111382)
OTHER ischiocoxopodopatellar syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX4 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 147891
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None