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Aase-Smith syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Mondo Term and Equivalent IDs
MONDO:0007839:  Aase-Smith syndrome
GARD:0005642: 
MESH:C535332: 
Orphanet:916: 
SCTID:718576001: 
UMLS:C0220686: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found