You are using an outdated browser. Please upgrade your browser to improve your experience.
sclerosteosis 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
Uniprot Description A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
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:0060757
OMIM:614305
UMLS:C3280402
MONDO:0013679
High level summary of knowledge for a disease, including descriptions and datasource references.