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PHAVER syndrome

Disease Summary
Associated Targets ()

Mondo Description Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
Mondo Term and Equivalent IDs
MONDO:0009859:  PHAVER syndrome
GARD:0004465: 
MESH:C538357: 
Orphanet:2876: 
SCTID:723453002: 
UMLS:C1849928: