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DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome
Disease Ontology Definition:A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
Synonyms: multiple pterygium syndrome,
Echinobase Genes :
MIM:253290 - multiple pterygium syndrome, lethal type; lmps |
MIM:265000 - multiple pterygium syndrome, escobar variant; evmps |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee