{
  "id": 14180,
  "label": "hereditary antithrombin deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013144",
  "properties": {
    "xrefs": [
      "DOID:3755",
      "GARD:0006148",
      "ICD9:286.9",
      "MEDGEN:75781",
      "MESH:D020152",
      "NORD:791",
      "OMIM:613118",
      "Orphanet:82",
      "SCTID:36351005",
      "UMLS:C0272375"
    ],
    "synonyms": [
      "AT3D",
      "Antithrombin Deficiency",
      "antithrombin 3 deficiency",
      "antithrombin III deficiency",
      "congenital AT-III deficiency",
      "congenital antithrombin III deficiency",
      "hereditary antithrombin deficiency",
      "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
      "hereditary thrombophilia due to congenital antithrombin deficiency",
      "inherited antithrombin deficiency",
      "thrombophilia 7 due to antithrombin III deficiency",
      "thrombophilia due to antithrombin 3 deficiency",
      "thrombophilia due to antithrombin III deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18454,
      "label": "secondary avascular necrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021659",
          "MEDGEN:1842971",
          "Orphanet:399169",
          "UMLS:C5680036"
        ],
        "synonyms": [
          "secondary AVN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018374"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021667",
          "MEDGEN:1842788",
          "Orphanet:399380",
          "UMLS:C5680035"
        ],
        "synonyms": [
          "bone necrosis of genetic origin",
          "genetic osteonecrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018383"
    },
    {
      "id": 23980,
      "label": "inherited thrombophilia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4413,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026094",
          "MEDGEN:391721",
          "OMIMPS:188050",
          "UMLS:C2584620"
        ],
        "synonyms": [
          "hereditary hypercoagulable disorder",
          "hereditary thrombophilia",
          "thrombophilia, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of thrombophilia that is inherited."
      },
      "child_count": 24,
      "reference_id": "MONDO:0100240"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18454,
      "label": "secondary avascular necrosis"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin"
    },
    {
      "id": 23980,
      "label": "inherited thrombophilia"
    }
  ]
}