{
  "id": 19022,
  "label": "hereditary thrombophilia due to congenital protein S deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019144",
  "properties": {
    "xrefs": [
      "DOID:0111905",
      "GARD:0016543",
      "MEDGEN:748876",
      "Orphanet:743",
      "UMLS:C2584611",
      "icd11.foundation:1305244529"
    ],
    "synonyms": [
      "autosomal recessive thrombophilia due to congenital protein S deficiency",
      "hereditary thrombophilia due to congenital protein S deficiency",
      "severe hereditary thrombophilia due to congenital protein S deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4412,
      "label": "protein S deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2451",
          "HGNC:9456",
          "ICD9:289.81",
          "MEDGEN:69229",
          "MESH:D018455",
          "NANDO:1201081",
          "NANDO:2100198",
          "NANDO:2200690",
          "NCIT:C99026",
          "SCTID:1563006",
          "UMLS:C0242666"
        ],
        "synonyms": [
          "Protein S deficiency",
          "Protein S deficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot."
      },
      "child_count": 1,
      "reference_id": "MONDO:0002304"
    },
    {
      "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": [
    {
      "id": 13908,
      "label": "thrombophilia due to protein S deficiency, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111900",
          "GARD:0018568",
          "MEDGEN:479841",
          "MESH:C567077",
          "MedDRA:10068370",
          "OMIM:612336",
          "Orphanet:26349",
          "UMLS:C3278211"
        ],
        "synonyms": [
          "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency",
          "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant",
          "thrombophilia 5 due to protein S deficiency, autosomal dominant",
          "thrombophilia due to protein S deficiency, autosomal dominant",
          "THPH5",
          "protein S acquired deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012868"
    },
    {
      "id": 14809,
      "label": "thrombophilia due to protein S deficiency, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018569",
          "MEDGEN:482722",
          "OMIM:614514",
          "UMLS:C3281092"
        ],
        "synonyms": [
          "thrombophilia 5 due to protein S deficiency, autosomal recessive",
          "thrombophilia due to protein S deficiency, autosomal recessive",
          "THPH6",
          "thrombophilia due to PROTEIN S deficiency, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013791"
    }
  ],
  "roots": [
    {
      "id": 4412,
      "label": "protein S deficiency"
    },
    {
      "id": 23980,
      "label": "inherited thrombophilia"
    }
  ]
}