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Summary Literature (0)
DOID:0050475 - Weill-Marchesani syndrome

Disease Ontology Definition:A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

Synonyms: congenital mesodermal dystrophy, GEMSS syndrome, Marchesani-Weill Syndrome, Mesodermal Dysmorphodystrophy, Congenital, Spherophakia Brachymorphia Syndrome

Xenbase Genes : fbn1, adamts10, adamts17

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018096 - Weill-Marchesani syndrome


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a), syndrome (is_a)