{
  "id": 10449,
  "label": "factor V and factor VIII, combined deficiency of, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009206",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18319,
      "label": "combined deficiency of factor V and factor VIII",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4359,
        4360
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018175"
    },
    {
      "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": 18319,
      "label": "combined deficiency of factor V and factor VIII"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}