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Eiken syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.
Uniprot Description A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation.
Mondo Term and Equivalent IDs
MONDO:0010803:  Eiken syndrome
DOID:0111732: 
MESH:C564010: 
Orphanet:79106: 
SCTID:720863002: 
UMLS:C1838779: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)