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Weill-Marchesani syndrome

Disease Summary
Associated Targets (7)
Tbio

7


GARD Rare
Mondo Description Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Disease Ontology Description An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
Mondo Term and Equivalent IDs
MONDO:0018096:  Weill-Marchesani syndrome
GARD:0004936: 
MESH:D056846: 
NCIT:C85226: 
OMIMPS:277600: 
Orphanet:3449: 
SCTID:2884008: 
UMLS:C0265313: