{
    "disease_id": "DOID:0060640", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "EE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "encephalopathy, petechiae, and ethylmalonic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "encephalopathy, ethylmalonic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "EPEMA syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "encephalopathy, ethylmalonic; EE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011229", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011229", 
            "name": "eme"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060640", 
        "description": "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060640", 
        "name": "ethylmalonic encephalopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060640#disease-associations", 
            "id": "0060640", 
            "database": "Alliance of Genome Resources"
        }
    ]
}