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spondyloepiphyseal dysplasia, Cantu type

Disease Summary
Associated Targets (0)

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Mondo Description Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Mondo Term and Equivalent IDs
MONDO:0012716:  spondyloepiphyseal dysplasia, Cantu type
GARD:0010629: 
MESH:C567128: 
Orphanet:163654: 
SCTID:718765003: 
UMLS:C2673649: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found