{
  "id": 9200,
  "label": "angioosteohypertrophic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007864",
  "properties": {
    "xrefs": [
      "DOID:2926",
      "GARD:0003122",
      "MEDGEN:9646",
      "MESH:D007715",
      "MedDRA:10051452",
      "NANDO:1200884",
      "NANDO:2201030",
      "NCIT:C84801",
      "NORD:1337",
      "OMIM:149000",
      "Orphanet:2346",
      "Orphanet:90308",
      "SCTID:721105004",
      "UMLS:C0022739",
      "icd11.foundation:1561120378"
    ],
    "synonyms": [
      "Klippel Trenaunay syndrome",
      "Klippel-Trenaunay Syndrome",
      "Klippel-Trenaunay syndrome",
      "Klippel-Trenaunay-Weber syndrome",
      "Klippel-Trenaunay-Weber syndrome, Isolated cases",
      "Klippel-Trénaunay syndrome",
      "Klippel-Trénaunay-Weber syndrome",
      "Weber-Klippel-Trenaunay",
      "angioosteohypertrophy syndrome",
      "haemangiectatic hypertrophy",
      "KTS",
      "Ktw syndrome",
      "angio-osteohypertrophy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    },
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    }
  ]
}