| Metadata | |
|---|---|
| ID | DOID:0111382 |
| Name | ischiocoxopodopatellar 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. https://www.ncbi.nlm.nih.gov/pubmed/11303519, https://www.ncbi.nlm.nih.gov/pubmed/15106123 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720752007 |
| Subsets |
DO_rare_slim |
| 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] |
| Parent Relationships |
is_a autosomal dominant disease is_a dysostosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |