{
    "disease_id": "DOID:0080133",
    "recommended_name": {
        "id": "DOID:0080133",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080133",
        "name": "multiple mitochondrial dysfunctions syndrome 1",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080133",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080133",
            "name": "NFU1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome 1",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene."
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome 1; MMDS1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "MMDS1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "NFU1 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "Mmds",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "NFU1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011582",
            "name": "multiple mitochondrial dysfunctions syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:605711",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605711",
            "name": "Multiple mitochondrial dysfunctions syndrome 1",
            "description": "Multiple mitochondrial dysfunctions syndrome 1"
        }
    ]
}