{
    "disease_id": "DOID:0080136",
    "recommended_name": {
        "id": "DOID:0080136",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080136",
        "name": "multiple mitochondrial dysfunctions syndrome 4",
        "description": "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome 4",
            "description": "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene."
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "MMDS4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome 4; MMDS4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "multiple mitochondrial dysfunctions syndrome type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "ISCA2 fatal multiple mitochondrial dysfunctions syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014611",
            "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2",
            "description": ""
        },
        {
            "id": "MIM:616370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616370",
            "name": "Multiple mitochondrial dysfunctions syndrome 4",
            "description": "Multiple mitochondrial dysfunctions syndrome 4"
        }
    ]
}