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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.
Mondo Term and Equivalent IDs
MONDO:0010754:  van den Bosch syndrome
GARD:0005453: 
MESH:C563129: 
Orphanet:3417: 
SCTID:733110004: 
UMLS:C0796192: