{
    "disease_id": "DOID:0080476",
    "recommended_name": {
        "id": "DOID:0080476",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080476",
        "name": "peroxisome biogenesis disorder 1A",
        "description": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080476",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080476",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "Cerebrohepatorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder 1A (Zellweger); PBD1A",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "PBD1A",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "Zs",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder, complementation group E",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder, complementation group 1",
            "description": ""
        },
        {
            "id": "MIM:214100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214100",
            "name": "Peroxisome biogenesis disorder 1A",
            "description": "Peroxisome biogenesis disorder 1A"
        }
    ]
}