{
  "id": 5126,
  "label": "disappearing bone disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0003157",
  "properties": {
    "xrefs": [
      "DOID:4837",
      "ICD9:733.09",
      "MEDGEN:45247",
      "NANDO:1200878",
      "NANDO:1200880",
      "SCTID:240161003",
      "UMLS:C0029436"
    ],
    "synonyms": [
      "Gorham's disease",
      "massive osteolysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal."
  },
  "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"
    }
  ],
  "children": [
    {
      "id": 8476,
      "label": "acroosteolysis dominant type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        5126,
        7203,
        8475,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2736",
          "GARD:0000508",
          "ICD9:756.59",
          "MEDGEN:182961",
          "MESH:C531695",
          "MESH:C535663",
          "MESH:C537586",
          "NCIT:C84745",
          "NORD:1214",
          "OMIM:102500",
          "Orphanet:955",
          "SCTID:63122002",
          "UMLS:C0917715"
        ],
        "synonyms": [
          "Arthrodentoosteodysplasia",
          "Cheney syndrome",
          "Hajdu Cheney Syndrome",
          "Hajdu-Cheney syndrome",
          "Hajdu-Cheney syndrome-NOTCH2",
          "acrodentoosteodysplasia",
          "acroosteolysis with osteoporosis and changes in skull and mandible",
          "serpentine fibula polycystic kidney syndrome",
          "serpentine fibula-polycystic kidney syndrome",
          "serpentine fibula-polycystic kidneys syndrome",
          "HJCYS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007057"
    },
    {
      "id": 8805,
      "label": "Gorham-Stout disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4167,
        5126,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006542",
          "ICD9:733.99",
          "MEDGEN:45248",
          "MedDRA:10071283",
          "NANDO:1200878",
          "NANDO:1200880",
          "NORD:1200",
          "OMIM:123880",
          "Orphanet:73",
          "SCTID:1515008",
          "UMLS:C0029438",
          "icd11.foundation:1318015458"
        ],
        "synonyms": [
          "Gorham disease",
          "Gorham syndrome",
          "Gorham-Stout disease",
          "idiopathic massive osteolysis",
          "progressive massive osteolysis",
          "vanishing bone disease",
          "cystic angiomatosis of bone diffuse",
          "cystic angiomatosis of bone, diffuse",
          "osteolysis massive",
          "osteolysis, massive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007414"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}