{
  "id": 14291,
  "label": "arthrogryposis, renal dysfunction, and cholestasis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013255",
  "properties": {
    "xrefs": [
      "DOID:0111354",
      "GARD:0015658",
      "MEDGEN:462022",
      "OMIM:613404",
      "UMLS:C3150672"
    ],
    "synonyms": [
      "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome",
      "arthrogryposis, renal dysfunction, and cholestasis 2",
      "arthrogryposis, renal dysfunction, and cholestasis type 2",
      "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39",
      "ARCS2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17491,
      "label": "arthrogryposis-renal dysfunction-cholestasis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        10090,
        16198,
        17982
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050763",
          "GARD:0000794",
          "MEDGEN:1647210",
          "MESH:C535382",
          "OMIMPS:208085",
          "Orphanet:2697",
          "SCTID:720513002",
          "UMLS:C4551984"
        ],
        "synonyms": [
          "ARC syndrome",
          "arthrogryposis, renal dysfunction, and cholestasis",
          "arthrogryposis - renal dysfunction - cholestasis",
          "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis",
          "arthrogryposis renal dysfunction cholestasis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017123"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17491,
      "label": "arthrogryposis-renal dysfunction-cholestasis syndrome"
    }
  ]
}