{
    "disease_id": "DOID:0080312",
    "recommended_name": {
        "id": "DOID:0080312",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080312",
        "name": "neurodevelopmental disorder with midbrain and hindbrain malformations",
        "description": "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in ARHGEF2 on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080312",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080312",
            "name": "NEDMHM",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "neurodevelopmental disorder with midbrain and hindbrain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "neurodevelopmental disorder with midbrain and hindbrain malformations; NEDMHM",
            "description": ""
        },
        {
            "id": "MONDO:0056797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0056797",
            "name": "NEDMHM",
            "description": ""
        },
        {
            "id": "MIM:617523",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617523",
            "name": "Neurodevelopmental disorder with midbrain and hindbrain malformations",
            "description": "Neurodevelopmental disorder with midbrain and hindbrain malformations"
        }
    ]
}