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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: congenital mesodermal dystrophy, GEMSS syndrome, Marchesani-Weill Syndrome, Mesodermal Dysmorphodystrophy, Congenital, Spherophakia Brachymorphia Syndrome
Xenbase Genes
:
fbn1,
adamts10,
adamts17
| MONDO:0018096 - Weill-Marchesani syndrome |
| MIM:277600 - WEILL-MARCHESANI SYNDROME 1; WMS1 |
| MIM:608328 - WEILL-MARCHESANI SYNDROME 2; WMS2 |
| MIM:613195 - WEILL-MARCHESANI SYNDROME 4; WMS4 |
| MIM:614819 - WEILL-MARCHESANI SYNDROME 3; WMS3 |
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)