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ischiocoxopodopatellar syndrome
Summary
- Synonym
-
- SPS
- Scott-Taor syndrome
- 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
- small patella syndrome
- 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.
- Super Class
- autosomal dominant disease dysostosis
External Links
- Disease Ontology
- DOID:0111382
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P14555 | Phospholipase A2, membrane associated |
