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Angelman syndrome

Disease Summary
Associated Targets (9)
Tbio

6

Tchem

2

Tclin

1


Explore Associated Targets
Mondo Description Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Uniprot Description A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.
Mondo Term and Equivalent IDs
MONDO:0007113:  Angelman syndrome
GARD:0005810: 
ICD10:Q93.51: 
MESH:C531619: 
MESH:D017204: 
NCIT:C75462: 
Orphanet:72: 
SCTID:76880004: 
UMLS:C0162635: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)