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Weill-Marchesani syndrome 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614819
UMLS:C3553785
MONDO:0013899
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