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TCF12-related craniosynostosis
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
Uniprot Description A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
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:615314
UMLS:C3715051
MONDO:0014128
High level summary of knowledge for a disease, including descriptions and datasource references.