{
    "disease_id": "DOID:0050796",
    "recommended_name": {
        "id": "DOID:0050796",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050796",
        "name": "achalasia microcephaly syndrome",
        "description": "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)."
    },
    "synonyms": [
        {
            "id": "DOID:0050796",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050796",
            "name": "ACHALASIA-MICROCEPHALY SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050796",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050796",
            "name": "Achalasia microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008699",
            "name": "achalasia microcephaly syndrome",
            "description": "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."
        },
        {
            "id": "MONDO:0008699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008699",
            "name": "achalasia microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0008699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008699",
            "name": "achalasia-microcephaly syndrome",
            "description": ""
        }
    ]
}