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Char syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Uniprot Description An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Disease Ontology Description A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
Mondo Term and Equivalent IDs
MONDO:0008209:  Char syndrome
GARD:0001237: 
MESH:C566815: 
Orphanet:46627: 
SCTID:703534001: 
UMLS:C1868570: