{"_id":"MONDO:0008699","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"53230-10-7","chemical_name":"Mefloquine","direct_evidence":"marker/mechanism","mesh_chemical_id":"D015767","pubmed":"10532181","source":"CTD"},"mesh":"C536010"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050177","DOID:630","DOID:4","DOID:0050737","DOID:225","DOID:0050739"],"children":[],"def":"\"A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).\" [url:https\\://en.wikipedia.org/wiki/Achalasia_microcephaly]","descendants":[],"doid":"DOID:0050796","name":"achalasia microcephaly syndrome","parents":["DOID:0050737","DOID:225"],"synonyms":{"exact":["Achalasia microcephaly","ACHALASIA-MICROCEPHALY SYNDROME"]},"xrefs":{"gard":"456","mesh":"C536010","mim":"200450","ordo":"929","snomedct_us_2025_09_01":"718573009","umls_cui":"C1860212"}},"hpo":[{"disease_name":"Achalasia-Microcephaly syndrome","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"},"omim":"200450","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000252","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002571","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"},{"biocuration":{"date":"2018-10-08","name":"HPO:skoehler"},"evidence":"IEA","hp_freq":"HP:0040284","hpo_id":"HP:0000565","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001249","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"},{"biocuration":{"date":"2019-04-18","name":"HPO:skoehler"},"evidence":"IEA","hp_freq":"HP:0040284","hpo_id":"HP:0001007","omim_refs":"OMIM:200450","original_disease_id":"OMIM:200450"}]},{"disease_name":"Achalasia-microcephaly syndrome","orphanet":"929","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000252","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000286","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000303","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000347","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000400","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000448","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001249","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001510","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002571","orphanet_refs":"orphanet:929"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0007477","orphanet_refs":"orphanet:929"}]}],"mondo":{"ancestors":["MONDO:0000429","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:0003847","MONDO:0006025","MONDO:7770008"],"definition":"Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. [Orphanet:929]","label":"achalasia microcephaly syndrome","mondo":"MONDO:0008699","parents":["MONDO:0006025"],"synonym":{"exact":["achalasia-microcephaly syndrome"]},"xrefs":{"doid":["DOID:0050796"],"gard":["0000456"],"medgen":["349753"],"mesh":["C536010"],"omim":["200450"],"orphanet":["929"],"sctid":["718573009"],"umls":["C1860212"]}},"original_id":"orphanet:929","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C536010","preferred":"C536010"},"snomed":{"non-preferred":"718573009"},"umls":"C1860212"}}