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Aarskog-Scott syndrome, X-linked

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.
Uniprot Description An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity.
Mondo Term and Equivalent IDs
MONDO:0010589:  Aarskog-Scott syndrome, X-linked
GARD:0004775: 
MESH:C535331: 
NCIT:C129720: 
Orphanet:915: 
SCTID:14921002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found