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FRAXF syndrome
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:100974
SCTID:716708005
UMLS:C4274329
UMLS:CN197382
MONDO:0015084
High level summary of knowledge for a disease, including descriptions and datasource references.