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Cornelia de Lange syndrome 3
Disease Summary
Associated Targets (5)
Tbio
3
Tchem
2
Mondo Description Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.
Uniprot Description A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation.
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:0080507
OMIM:610759
UMLS:C1853099
MONDO:0012555
High level summary of knowledge for a disease, including descriptions and datasource references.