{
  "id": 16482,
  "label": "congenital vitamin K-dependent coagulation factors deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015722",
  "properties": {
    "xrefs": [
      "DOID:0112172",
      "GARD:0020121",
      "MEDGEN:1378036",
      "OMIMPS:277450",
      "Orphanet:169826",
      "Orphanet:98434",
      "UMLS:C4510617",
      "icd11.foundation:54644599"
    ],
    "synonyms": [
      "congenital vitamin K-dependent coagulation factors combined deficiency",
      "vitamin K-dependent clotting factors, combined deficiency of"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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": [
    {
      "id": 10454,
      "label": "congenital factor VII deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4361,
        16482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2215",
          "GARD:0002238",
          "MEDGEN:473015",
          "MedDRA:10016079",
          "NCIT:C131631",
          "OMIM:227500",
          "Orphanet:327",
          "UMLS:C0272320"
        ],
        "synonyms": [
          "congenital factor VII deficiency",
          "congenital proconvertin deficiency",
          "hypoproconvertinemia",
          "F7 deficiency",
          "factor 7 deficiency",
          "factor VII deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009211"
    },
    {
      "id": 10455,
      "label": "congenital factor X deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4364,
        16482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2222",
          "GARD:0006404",
          "ICD9:286.3",
          "MEDGEN:543976",
          "NCIT:C98940",
          "OMIM:227600",
          "Orphanet:328",
          "SCTID:37350004",
          "UMLS:C0272327",
          "icd11.foundation:1886781445"
        ],
        "synonyms": [
          "Stuart-Prower factor deficiency",
          "congenital Stuart factor deficiency",
          "congenital factor X deficiency",
          "hereditary Factor X deficiency",
          "F10 deficiency",
          "Stuart factor deficiency, congenital",
          "Stuart-Prower Factor deficiency",
          "factor 10 deficiency",
          "factor X deficiency",
          "factor X deficiency, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009212"
    },
    {
      "id": 11369,
      "label": "vitamin K-dependent clotting factors, combined deficiency of, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112173",
          "GARD:0018195",
          "MEDGEN:376381",
          "MESH:C564741",
          "OMIM:277450",
          "SCTID:724356003",
          "UMLS:C1848534"
        ],
        "synonyms": [
          "GGCX congenital vitamin K-dependent coagulation factors combined deficiency",
          "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX",
          "hereditary combined deficiency of factors II, VII, IX and X",
          "vitamin K-dependent clotting factors, combined deficiency of, type 1",
          "FMFD 3",
          "VKCFD1",
          "Vkcfd",
          "factors II, VII, IX, and X, combined deficiency of",
          "familial multiple coagulation Factor deficiency 3",
          "glutamic acid, deficient gamma-carboxylation of",
          "hereditary combined deficiency of vitamin K-dependent clotting factors",
          "multiple coagulation Factor deficiency 3",
          "vitamin K-dependent clotting factors, combined deficiency of, 1",
          "vitamin K-dependent coagulation defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010187"
    },
    {
      "id": 12918,
      "label": "vitamin K-dependent clotting factors, combined deficiency of, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112174",
          "GARD:0018196",
          "MEDGEN:334505",
          "MESH:C564393",
          "OMIM:607473",
          "UMLS:C1843832"
        ],
        "synonyms": [
          "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency",
          "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1",
          "vitamin K-dependent clotting factors, combined deficiency of, 2",
          "vitamin K-dependent clotting factors, combined deficiency of, type 2",
          "VKCFD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011837"
    },
    {
      "id": 14394,
      "label": "congenital prothrombin deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16482,
        21340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2235",
          "GARD:0002926",
          "ICD9:286.3",
          "MEDGEN:124425",
          "MESH:D007020",
          "NANDO:2200673",
          "NCIT:C131737",
          "OMIM:613679",
          "Orphanet:325",
          "SCTID:73975000",
          "UMLS:C0272317"
        ],
        "synonyms": [
          "factor 2 deficiency",
          "factor II deficiency",
          "hypoprothrombinemia",
          "prothrombin deficiency",
          "Dysprothrombinemia",
          "congenital prothrombin deficiency",
          "hereditary prothrombin deficiency",
          "congenital factor II deficiency",
          "prothrombin deficiency, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013361"
    }
  ],
  "roots": [
    {
      "id": 4359,
      "label": "coagulation protein disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}