{
    "disease_id": "DOID:0080312", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0056797", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0056797", 
            "name": "neurodevelopmental disorder with midbrain and hindbrain malformations; NEDMHM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0056797", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0056797", 
            "name": "NEDMHM"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080312", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080312", 
            "name": "NEDMHM"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080312", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080312", 
        "name": "neurodevelopmental disorder with midbrain and hindbrain malformations"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080312#disease-associations", 
            "id": "0080312", 
            "database": "Alliance of Genome Resources"
        }
    ]
}