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spondyloepiphyseal dysplasia tarda
Disease Summary
Associated Targets (16)
Tbio
8
Tclin
5
Tchem
2
Tdark
1
Mondo Description Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Uniprot Description X-linked recessive disorder of endochondral bone formation.
Disease Ontology Description A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
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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 Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080362
Orphanet:93284
SCTID:51952004
MONDO:0019667
High level summary of knowledge for a disease, including descriptions and datasource references.