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van den Bosch syndrome
Disease Summary
Associated Targets ()
Mondo Description Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.
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.
GARD:0005453
MESH:C563129
OMIM:314500
Orphanet:3417
SCTID:733110004
UMLS:C0796192
MONDO:0010754
High level summary of knowledge for a disease, including descriptions and datasource references.