{
    "disease_id": "DOID:0080135", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "IBA57 fatal multiple mitochondrial dysfunctions syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "MMDS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "multiple mitochondrial dysfunctions syndrome type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "multiple mitochondrial dysfunctions syndrome 3; MMDS3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014132", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014132", 
            "name": "IBA57 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080135", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080135", 
            "name": "IBA57 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080135", 
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080135", 
        "name": "multiple mitochondrial dysfunctions syndrome 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080135#disease-associations", 
            "id": "0080135", 
            "database": "Alliance of Genome Resources"
        }
    ]
}