{
  "id": 18319,
  "label": "combined deficiency of factor V and factor VIII",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018175",
  "properties": {
    "xrefs": [
      "GARD:0016639",
      "MEDGEN:384006",
      "NANDO:2200686",
      "Orphanet:35909",
      "SCTID:715559004",
      "UMLS:C1856883",
      "icd11.foundation:184219764"
    ],
    "synonyms": [
      "F5F8D",
      "FV and FVIII combined deficiency",
      "combined deficiency of factor V and factor type VIII",
      "familial multiple coagulation factor deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 10449,
      "label": "factor V and factor VIII, combined deficiency of, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18319,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018630",
          "MEDGEN:1637212",
          "OMIM:227300",
          "SCTID:84048006",
          "UMLS:C4551981"
        ],
        "synonyms": [
          "LMAN1 combined deficiency of factor V and factor VIII",
          "combined deficiency of factor V and factor VIII caused by mutation in LMAN1",
          "combined factor V and VIII deficiency",
          "factor 5 and Factor VIII, combined deficiency of, 1",
          "factor V and factor VIII, combined deficiency of, type 1",
          "F5F8D1",
          "FMFD 1",
          "factor V and factor VIII, combined deficiency of, 1",
          "familial multiple coagulation Factor deficiency 1",
          "multiple coagulation Factor deficiency 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009206"
    },
    {
      "id": 10450,
      "label": "factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018631",
          "MEDGEN:346462",
          "OMIM:227310",
          "UMLS:C1856882"
        ],
        "synonyms": [
          "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor",
          "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009207"
    },
    {
      "id": 14366,
      "label": "factor 5 and Factor VIII, combined deficiency of, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18319,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018632",
          "MEDGEN:462239",
          "OMIM:613625",
          "UMLS:C3150889"
        ],
        "synonyms": [
          "MCFD2 combined deficiency of factor V and factor VIII",
          "combined deficiency of factor V and factor VIII caused by mutation in MCFD2",
          "factor 5 and Factor VIII, combined deficiency of, 2",
          "factor 5 and Factor VIII, combined deficiency of, type 2",
          "factor V and factor VIII, combined deficiency of",
          "F5F8D2",
          "factor V and factor VIII, combined deficiency of, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013331"
    }
  ],
  "roots": [
    {
      "id": 4359,
      "label": "coagulation protein disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    }
  ]
}