{
  "id": 14774,
  "label": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013756",
  "properties": {
    "xrefs": [
      "GARD:0015805",
      "MEDGEN:482430",
      "OMIM:614441",
      "UMLS:C3280800"
    ],
    "synonyms": [
      "SLCO2A1 primary hypertrophic osteoarthropathy",
      "hypertrophic osteoarthropathy, primary, autosomal recessive 2",
      "hypertrophic osteoarthropathy, primary, autosomal recessive, 2",
      "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2",
      "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1",
      "PDP, autosomal recessive",
      "PHOAR2",
      "pachydermoperiostosis, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17104,
      "label": "primary hypertrophic osteoarthropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14283",
          "GARD:0020667",
          "MEDGEN:18210",
          "MESH:D010004",
          "MedDRA:10051686",
          "NANDO:1200642",
          "NANDO:2100288",
          "NANDO:2201004",
          "NCIT:C85023",
          "OMIMPS:259100",
          "Orphanet:248095",
          "Orphanet:2796",
          "SCTID:88220006",
          "UMLS:C0029411",
          "icd11.foundation:792225761"
        ],
        "synonyms": [
          "PDP",
          "PHO",
          "Touraine Solente Gole syndrome",
          "Touraine-Solente-Gole syndrome",
          "hypertrophic osteoarthropathy, primary",
          "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1",
          "hypertropic osteoarthropathy, primary",
          "idiopathic hypertrophic osteoarthropathy",
          "pachydermoperiostosis",
          "pachydermoperiostosis of nail [ambiguous]",
          "PHOAR1",
          "hypertrophic osteoarthropathy, primary, autosomal recessive, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016620"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17104,
      "label": "primary hypertrophic osteoarthropathy"
    }
  ]
}