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Weill-Marchesani syndrome 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.
Uniprot Description A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Mondo Term and Equivalent IDs
MONDO:0010194:  Weill-Marchesani syndrome 1