{
  "id": 17104,
  "label": "primary hypertrophic osteoarthropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016620",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 9483,
      "label": "hypertrophic osteoarthropathy, primary, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4222,
        17104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015101",
          "MEDGEN:382429",
          "OMIM:167100",
          "UMLS:C2674695"
        ],
        "synonyms": [
          "PHOAD",
          "hypertrophic osteoarthropathy, primary, autosomal dominant",
          "PDP, autosomal dominant",
          "Pho, autosomal dominant",
          "pachydermoperiostosis, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008172"
    },
    {
      "id": 14774,
      "label": "hypertrophic osteoarthropathy, primary, autosomal recessive, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17104
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013756"
    },
    {
      "id": 16307,
      "label": "cranio-osteoarthropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001564",
          "MEDGEN:394824",
          "Orphanet:1525",
          "SCTID:720753002",
          "UMLS:C2678439",
          "icd11.foundation:225223076"
        ],
        "synonyms": [
          "Currarino disease",
          "Currarino idiopathic osteoarthropathy",
          "Reginato-Schiapachasse syndrome",
          "cranio osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015466"
    },
    {
      "id": 21491,
      "label": "hypertrophic osteoarthropathy, primary, autosomal recessive, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015216",
          "MEDGEN:1641972",
          "OMIM:259100",
          "UMLS:C4551679"
        ],
        "synonyms": [
          "HPGD primary hypertrophic osteoarthropathy",
          "hypertrophic osteoarthropathy, primary, autosomal recessive 1",
          "hypertrophic osteoarthropathy, primary, autosomal recessive, 1",
          "primary hypertrophic osteoarthropathy caused by mutation in HPGD",
          "Cranioosteoarthropathy",
          "Currarino idiopathic osteoarthropathy",
          "PDP, autosomal recessive",
          "PHOAR1",
          "Pho, autosomal recessive",
          "Touraine-Solente-Gole syndrome",
          "familial idiopathic osteoarthropathy of childhood",
          "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 HPGD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024546"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}