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sclerosteosis

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Explore Associated Targets
Mondo Description Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Disease Ontology Description A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
Mondo Term and Equivalent IDs
MONDO:0017838:  sclerosteosis
GARD:0004771: 
MESH:C537525: 
NCIT:C131133: 
OMIMPS:269500: 
Orphanet:3152: 
SCTID:17568006: 
UMLS:C0265301: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)