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..expandWeill-Marchesani syndrome ()

       Child Nodes:
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18096
Name:Weill-Marchesani syndrome
Definition: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.
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Synonyms:congenital mesodermal dystrophy; GEMSS syndrome; Marchesani-Weill syndrome; mesodermal dysmorphodystrophy congenital; mesodermal Dysmorphodystrophy, congenital; spherophakia brachymorphia syndrome; spherophakia-brachymorphia syndrome; WM syndrome; WMS
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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