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trigonocephaly 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.
Uniprot Description A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head.
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:614485
MONDO:0013774
High level summary of knowledge for a disease, including descriptions and datasource references.