Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0080110 - multiple pterygium syndrome


Disease Ontology Definition:A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.

Synonyms:

Xenbase Genes : chrna1, chrnd, chrng, chrna1.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017415 - multiple pterygium syndrome

OMIM:
OMIM:253290 - MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS
OMIM: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
Parent(s): genetic disease (is_a)