FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ischiocoxopodopatellar syndrome ID (Ontology) DOID:0111382 (Human Disease)
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.
Also Known As "congenital coxa vara, patella aplasia and tarsal synostosis" ; "coxo-podo-patellar syndrome" ; "coxopodipatellar syndrome" (for all, see Synonyms field below)
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 Genes
 ischiocoxopodopatellar syndrome       1
 for disease ribbon | ischiocoxopodopatellar syndrome       1
 model of | ischiocoxopodopatellar syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__dysostosis__________________|
                                ischiocoxopodopatellar syndrome  1 rec.
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Is a autosomal dominant disease
dysostosis
Part of
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Synonyms
  • "congenital coxa vara, patella aplasia and tarsal synostosis" EXACT
    "coxo-podo-patellar syndrome" EXACT
    "coxopodipatellar syndrome" EXACT
    "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT
    "ischiopatellar dysplasia" EXACT
    "patella aplasia, coxa vara, and tarsal synostosis" EXACT
    "Scott-Taor syndrome" EXACT
    "small patella syndrome" EXACT
    "SPS" EXACT OMO:0003012
Secondary IDs
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GARD:3030
MESH:C535540
MESH:C536307
MIM:147891
ORDO:1509
SNOMEDCT_US_2023_03_01:720752007
UMLS_CUI:C1840061
UMLS_CUI:C1868581