Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. [ Orphanet:1509 ]
Synonyms: coxopodopatellar syndrome small patella syndrome Scott-Taor syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia
Term information
- OMIM:147891 (Orphanet:1509/e)
- GARD:3030 (MONDO:GARD)
- MEDGEN:333474 (MONDO:equivalentTo)
- MESH:C535540 (MONDO:equivalentTo)
- DOID:0111382 (MONDO:equivalentTo)
- UMLS:C1840061 (MONDO:equivalentTo)
- Orphanet:1509 (OMIM:147891)
- SCTID:720752007 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6751
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4948
http://linkedlifedata.com/resource/umls/id/C1840061
http://purl.obolibrary.org/obo/DOID_0111382
https://omim.org/entry/147891
http://www.orpha.net/ORDO/Orphanet_1509
http://identifiers.org/medgen/333474
http://identifiers.org/snomedct/720752007
http://identifiers.org/mesh/C535540
ischiocoxopodopatellar syndrome
congenital coxa vara, patella aplasia and tarsal synostosis
Coxo-podo-patellar syndrome
SPS
patella aplasia, coxa vara, tarsal synostosis
ICPPS