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spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Uniprot Description A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.
Mondo Term and Equivalent IDs
MONDO:0010075: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0112198
OMIM:271640
MONDO:0010075
High level summary of knowledge for a disease, including descriptions and datasource references.