{
    "disease_id": "DOID:0050763",
    "recommended_name": {
        "id": "DOID:0050763",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050763",
        "name": "ARC syndrome",
        "description": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS",
            "description": ""
        },
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "Arthrogryposis-renal dysfunction-cholestasis",
            "description": ""
        },
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene."
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "ARCS1",
            "description": ""
        },
        {
            "id": "MIM:208085",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208085",
            "name": "Arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": "Arthrogryposis, renal dysfunction, and cholestasis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111353",
            "label": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111354",
            "label": "arthrogryposis, renal dysfunction, and cholestasis 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111353",
        "DOID:0111354",
        "DOID:0050763"
    ],
    "unlinked_id_list": []
}
