"disease_ontology"^^ . "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)."^^ . _:vb50937615 . _:vb50937615 . "OMIM:200450"^^ . "ACHALASIA-MICROCEPHALY SYNDROME"@en . . . _:vb50937616 . _:vb50937616 . "2013-11-20T03:01:06Z"^^ . . _:vb50937615 . . _:vb50937615 . . "SNOMEDCT_US_2021_09_01:718573009"^^ . "UMLS_CUI:C1860212"^^ . "lschriml"^^ . "DOID:0050796"^^ . _:vb50937616 . _:vb50937615 . "MESH:C536010"^^ . "GARD:456"^^ . "Achalasia microcephaly"@en . _:vb50937616 . "achalasia microcephaly syndrome"^^ . _:vb50937616 .