{
  "id": 17491,
  "label": "arthrogryposis-renal dysfunction-cholestasis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017123",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 10090,
      "label": "arthrogryposis multiplex congenita 2, neurogenic type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16094
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090124",
          "GARD:0000790",
          "MEDGEN:1725686",
          "MESH:C536614",
          "OMIM:208100",
          "Orphanet:1143",
          "SCTID:715316005",
          "UMLS:C5435650"
        ],
        "synonyms": [
          "AMCN",
          "neurogenic arthrogryposis multiplex congenita",
          "AMC, neurogenic type",
          "arthrogryposis multiplex congenita, neurogenic type",
          "neurogenic type of AMC"
        ],
        "definition": "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy."
      },
      "child_count": 1,
      "reference_id": "MONDO:0008823"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 17982,
      "label": "inborn disorder of bilirubin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17981,
        21409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021347",
          "MEDGEN:1671515",
          "Orphanet:309816",
          "UMLS:C0349427",
          "icd11.foundation:1297666279"
        ],
        "synonyms": [
          "disorder of bilirubin metabolism",
          "disorder of bilirubin metabolism and excretion",
          "hereditary bilirubin metabolism disease",
          "inborn disorder of bilirubin metabolism and excretion",
          "bilirubin metabolism disorder"
        ],
        "definition": "An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017755"
    }
  ],
  "children": [
    {
      "id": 10089,
      "label": "arthrogryposis, renal dysfunction, and cholestasis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17491
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111353",
          "GARD:0015139",
          "MEDGEN:347219",
          "OMIM:208085",
          "UMLS:C1859722"
        ],
        "synonyms": [
          "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome",
          "arthrogryposis, renal dysfunction, and cholestasis 1",
          "arthrogryposis, renal dysfunction, and cholestasis type 1",
          "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B",
          "ARCS1",
          "Arc syndrome"
        ],
        "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 VPS33B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008822"
    },
    {
      "id": 14291,
      "label": "arthrogryposis, renal dysfunction, and cholestasis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17491
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013255"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 10090,
      "label": "arthrogryposis multiplex congenita 2, neurogenic type"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 17982,
      "label": "inborn disorder of bilirubin metabolism"
    }
  ]
}