{
  "id": 10095,
  "label": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008828",
  "properties": {
    "xrefs": [
      "DOID:0090127",
      "EFO:0009028",
      "GARD:0000306",
      "MEDGEN:349226",
      "MESH:C537560",
      "OMIM:208250",
      "Orphanet:2848",
      "UMLS:C1859690"
    ],
    "synonyms": [
      "CACP",
      "CACP syndrome",
      "Jacobs syndrome",
      "PAC syndrome",
      "arthropathy-camptodactyly syndrome",
      "camptodactyly-arthropathy-coxa vara-pericarditis syndrome",
      "camptodactyly-arthropathy-pericarditis syndrome",
      "pericarditis-arthropathy-camptodactyly syndrome",
      "arthropathy camptodactyly syndrome",
      "camptodactyly arthropathy coxa vara pericarditis syndrome",
      "camptodactyly arthropathy pericarditis syndrome",
      "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome",
      "fibrosing serositis, familial",
      "hypertrophic synovitis, congenital familial",
      "pericarditis arthropathy camptodactyly syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7203,
      "label": "rheumatic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1575",
          "EFO:0005755",
          "ICD9:729.0",
          "MEDGEN:3157",
          "MESH:D012216",
          "NANDO:2100151",
          "NANDO:2100152",
          "NCIT:C27204",
          "SCTID:396332003",
          "UMLS:C0009326",
          "Wikipedia:Rheumatism"
        ],
        "synonyms": [
          "rheumatic disease",
          "rheumatologic disorder",
          "collagen disease",
          "collagen vascular disease",
          "connective tissue disease",
          "disease, rheumatic",
          "diseases, rheumatic",
          "enthesopathies",
          "enthesopathy",
          "inflammatory rheumatism",
          "musculoskeletal pain disorder",
          "rheumatism"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis."
      },
      "child_count": 30,
      "reference_id": "MONDO:0005554"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7203,
      "label": "rheumatic disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}