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spondyloepiphyseal dysplasia, Stanescu type

Disease Summary
Associated Targets (1)
Tbio

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Uniprot Description An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands.
Mondo Term and Equivalent IDs
MONDO:0014701:  spondyloepiphyseal dysplasia, Stanescu type
Orphanet:459051: 
UMLS:C4225273: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found