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Sotos syndrome 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.
Uniprot Description A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
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.
OMIM:117550
SCTID:75968004
UMLS:CN035106
MONDO:0007299
High level summary of knowledge for a disease, including descriptions and datasource references.