{
    "disease_id": "DOID:0060640",
    "recommended_name": {
        "id": "DOID:0060640",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060640",
        "name": "ethylmalonic encephalopathy",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "ethylmalonic encephalopathy",
            "description": "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities."
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "EE",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "encephalopathy, petechiae, and ethylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "encephalopathy, ethylmalonic",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "EPEMA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "encephalopathy, ethylmalonic; EE",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0011229",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011229",
            "name": "eme",
            "description": ""
        },
        {
            "id": "MIM:602473",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602473",
            "name": "Ethylmalonic encephalopathy",
            "description": "Ethylmalonic encephalopathy"
        }
    ]
}