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spondyloepiphyseal dysplasia, Stanescu type
Disease Summary
Associated Targets (1)
Tbio
1
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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616583
Orphanet:459051
UMLS:C4225273
MONDO:0014701
High level summary of knowledge for a disease, including descriptions and datasource references.