{
  "id": 10552,
  "label": "congenital factor XII deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009315",
  "properties": {
    "xrefs": [
      "DOID:2231",
      "GARD:0006558",
      "ICD9:286.3",
      "MEDGEN:8772",
      "MESH:D005175",
      "NANDO:2200680",
      "NCIT:C131740",
      "NORD:1119",
      "OMIM:234000",
      "Orphanet:330",
      "SCTID:46981006",
      "UMLS:C0015526"
    ],
    "synonyms": [
      "Factor XII Deficiency",
      "Hageman Factor deficiency",
      "congenital Hageman factor deficiency",
      "congenital factor XII deficiency",
      "F12 deficiency",
      "Haf deficiency",
      "coagulation factor 12 deficiency",
      "factor 12 deficiency",
      "factor XII deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions."
  },
  "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": 4359,
      "label": "coagulation protein disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2212",
          "GARD:0023096",
          "MEDGEN:108723",
          "MESH:D020147",
          "NCIT:C27215",
          "SCTID:86075001",
          "UMLS:C0600503"
        ],
        "synonyms": [
          "coagulation factor deficiency",
          "coagulation factor deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002242"
    },
    {
      "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": 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": 4359,
      "label": "coagulation protein disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}