{
  "id": 13937,
  "label": "congenital factor XI deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012897",
  "properties": {
    "xrefs": [
      "DOID:2229",
      "GARD:0009670",
      "ICD10CM:D68.1",
      "ICD9:286.2",
      "MEDGEN:8770",
      "NCIT:C84705",
      "OMIM:612416",
      "Orphanet:329",
      "SCTID:49762007",
      "UMLS:C0015523",
      "icd11.foundation:413739466"
    ],
    "synonyms": [
      "PTA deficiency",
      "Rosenthal factor deficiency",
      "Rosenthal syndrome",
      "Rosenthal's disease",
      "congenital factor XI deficiency",
      "factor XI deficiency, autosomal dominant",
      "factor XI deficiency, autosomal recessive",
      "haemophilia C",
      "hemophilia C",
      "hereditary Factor XI deficiency",
      "hereditary factor XI deficiency",
      "hereditary factor XI deficiency disease",
      "plasma thromboplastin antecedent deficiency",
      "F11 deficiency",
      "factor 11 deficiency",
      "factor XI deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2905,
      "label": "autosomal genetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050739",
          "ICD9:758.5",
          "MEDGEN:539205",
          "SCTID:1899006",
          "UMLS:C0265384"
        ],
        "synonyms": [
          "autosomal hereditary disorder",
          "autosomal inherited disease",
          "autosomal inherited disorder"
        ],
        "definition": "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000429"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2213",
          "ICD9:287.9",
          "MEDGEN:6799",
          "MESH:D006474",
          "NCIT:C115221",
          "UMLS:C0019087"
        ],
        "synonyms": [
          "bleeding diathesis",
          "bleeding disorder",
          "bleeding predisposition",
          "bleeding tendency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002243"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "id": 20024,
      "label": "factor XI deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18652
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025180",
          "MEDGEN:1386956",
          "MESH:D005173",
          "NANDO:2200679",
          "NCIT:C131739",
          "SCTID:767713001",
          "UMLS:C4321502"
        ],
        "synonyms": [
          "factor XI deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020587"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2905,
      "label": "autosomal genetic disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 20024,
      "label": "factor XI deficiency"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}