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hypertrichosis cubiti-short stature syndrome

Disease Summary
Associated Targets ()

Mondo Description Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
Mondo Term and Equivalent IDs
MONDO:0007693:  hypertrichosis cubiti-short stature syndrome
GARD:0000143: 
MESH:C535618: 
Orphanet:2220: 
UMLS:C1841696: