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Holmes-Adie syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.
Uniprot Description A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J.
Mondo Term and Equivalent IDs
MONDO:0018690:  Holmes-Adie syndrome
EFO:0004126: 
GARD:0005749: 
MESH:D000270: 
NCIT:C34357: 
OMIM:103100: ADIE PUPIL
Orphanet:454718: 
SCTID:24225004: 
UMLS:C0001519: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found