contractures, pterygia, and spondylocarpotarsal fusion syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chrna1, myh3, chrnd, chrng, chrna1.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017415 - multiple pterygium syndrome

MONDO:0017415 - multiple pterygium syndrome

MIM:

MIM:253290 - MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS
MIM:265000 - MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
MIM:312150 - MULTIPLE PTERYGIUM SYNDROME, X-LINKED

MIM:253290 - MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS

MIM:265000 - MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

MIM:312150 - MULTIPLE PTERYGIUM SYNDROME, X-LINKED

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), monogenic disease (is_a), skin disease (is_a), syndrome (is_a)