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disease > genetic disease > hereditary disease > Weill-Marchesani syndrome
disease > diseases of the osteoarticular system > Weill-Marchesani syndrome
disease > eye disease > Weill-Marchesani syndrome
disease > complex syndrome > Weill-Marchesani syndrome

Preferred term

Weill-Marchesani syndrome  

Definition(s)

  • Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-JL5T2HJT-9

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RDF/XML TURTLE JSON-LD Last modified 5/14/20