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Disease Ontology Browser
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 TBX4 on chromosome 17q23.2.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/22/2020
MGI 6.16
The Jackson Laboratory