{"_id":"MONDO:0018690","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"7487-88-9","chemical_name":"Magnesium Sulfate","direct_evidence":"marker/mechanism","mesh_chemical_id":"D008278","pubmed":"2256494","source":"CTD"},{"cas_registry_number":"130-95-0","chemical_name":"Quinine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D011803","pubmed":"7369302","source":"CTD"}],"mesh":"D015845"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:4","DOID:225"],"children":[],"def":"\"A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.\" [url:http\\://en.wikipedia.org/wiki/Adie_syndrome, url:http\\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:https\\://www.merriam-webster.com/medical/Adie's%20syndrome]","descendants":[],"doid":"DOID:11549","name":"Adie syndrome","parents":["DOID:225"],"synonyms":{"exact":["Adie's pupil or syndrome","Adie's pupil syndrome","Adie's syndrome","Holmes-Adie syndrome"]},"xrefs":{"gard":"5749","mesh":"D000270","mim":"103100","ncit":"C34357","snomedct_us_2025_09_01":"123051004","umls_cui":"C0001519"}},"hpo":[{"disease_name":"Adie pupil","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","omim_refs":"OMIM:103100","original_disease_id":"OMIM:103100"},"omim":"103100","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001265","omim_refs":"OMIM:103100","original_disease_id":"OMIM:103100"},{"biocuration":{"date":"2015-01-21","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0012074","omim_refs":"OMIM:103100","original_disease_id":"OMIM:103100"}]},{"disease_name":"Holmes-Adie syndrome","orphanet":"454718","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012074","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000622","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001284","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0007695","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0009916","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011499","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000540","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000613","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001278","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012803","orphanet_refs":"orphanet:454718"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0034315","orphanet_refs":"orphanet:454718"}]}],"mondo":{"ancestors":["MONDO:0700096","MONDO:0000001","MONDO:7770006","MONDO:0002254"],"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. [NCIT:C34357]","label":"Holmes-Adie syndrome","mondo":"MONDO:0018690","parents":["MONDO:0002254"],"synonym":{"exact":["Adie pupil","Adie Syndrome","Adie syndrome","Adie's pupil","Holmes-Adie syndrome","tonic pupil","tonic pupil-tendon areflexia syndrome"],"related":["tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes"]},"xrefs":{"doid":["DOID:11549"],"efo":["EFO:0004126"],"gard":["0005749"],"medgen":["138"],"mesh":["D000270"],"ncit":["C34357"],"nord":["735"],"omim":["103100"],"orphanet":["454718"],"sctid":["24225004"],"umls":["C0001519"]}},"original_id":["MESH:D015845","orphanet:454718","UMLS:C0040416"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D000270","preferred":"D000270"},"nci":{"non-preferred":"C34357","preferred":"C34357"},"snomed":{"non-preferred":["24225004","123051004","1367666005"],"preferred":["24225004","123051004"]},"umls":"C0001519"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"H57.05"},"icd9cm":{"non-preferred":"379.46"},"mesh":{"non-preferred":"D015845","preferred":"D015845"},"snomed":{"non-preferred":["24225004","155204008","123051004","267749005"],"preferred":"24225004"},"umls":"C0040416"}]}