{
    "disease_id": "DOID:0080133", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "multiple mitochondrial dysfunctions syndrome 1; MMDS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "multiple mitochondrial dysfunctions syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "MMDS1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "NFU1 fatal multiple mitochondrial dysfunctions syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "Mmds"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011582", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011582", 
            "name": "NFU1 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080133", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080133", 
            "name": "NFU1 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080133", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080133", 
        "name": "multiple mitochondrial dysfunctions syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080133#disease-associations", 
            "id": "0080133", 
            "database": "Alliance of Genome Resources"
        }
    ]
}