Search Ontology:
Human Disease
ischiocoxopodopatellar syndrome
- Term ID
- DOID:0111382
- Synonyms
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- 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
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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
- Ontology
- Human Disease ( DOID:0111382 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models