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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: GEMSS syndrome, Marchesani-Weill Syndrome, Mesodermal Dysmorphodystrophy, Congenital, Spherophakia Brachymorphia Syndrome, congenital mesodermal dystrophy,
Xenbase Genes
:
fbn1,
adamts10,
adamts17
| MONDO:0018096 - Weill-Marchesani syndrome |
Other Model Organisms: AGR, 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)