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| Term ID: | 18690 |
| Name: | Holmes-Adie syndrome |
| Definition: | 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. |
| Alternative IDs: | 103100 |
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| TreeNumbers: | |
| Synonyms: | Adie pupil; Adie syndrome; Adie's pupil; Adie's pupil or syndrome; Adie's pupil syndrome; Adie's syndrome; Holmes-Adie syndrome; poorly Reacting pupils; tonic pupil; tonic pupil-tendon areflexia syndrome; tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes |
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| Reference: |
MedGen:
MeSH:
OMIM: 103100;
MSeqDR  :
Genes: | Could not execute query 3
SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar
FROM gb_exome.clinvar_variation_v2_latest as t5
WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:103100%' OR t5.otherIDs like '%OMIM Allelic Variant:103100%' )
ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start; |
Holmes-Adie syndrome