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DOID:0050475 - Weill-Marchesani syndrome
Disease Ontology Definition:An autosomal genetic disease characterized by short stature, bachycephaly 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,
Echinobase Genes
:
| MIM:277600 - weill-marchesani syndrome 1; wms1 |
| MIM:608328 - weill-marchesani syndrome 2; wms2 |
| MIM:613195 - weill-marchesani-like 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)