{
  "id": 11751,
  "label": "hemophilia A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010602",
  "properties": {
    "xrefs": [
      "DOID:12134",
      "GARD:0006591",
      "ICD10CM:D66",
      "ICD9:286.0",
      "MEDGEN:5501",
      "MESH:D006467",
      "MedDRA:10016080",
      "NANDO:2200676",
      "NCIT:C27146",
      "NORD:1221",
      "OMIM:134500",
      "OMIM:306700",
      "Orphanet:98878",
      "SCTID:234440005",
      "UMLS:C0019069",
      "icd11.foundation:337607970"
    ],
    "synonyms": [
      "congenital factor VIII disorder",
      "factor VIII deficiency",
      "haemophilia a, X-linked recessive",
      "haemophilia type A",
      "haemophilia type a",
      "hemophilia A",
      "hemophilia a, X-linked recessive",
      "hemophilia type A",
      "hemophilia type a",
      "hereditary Factor VIII deficiency",
      "hereditary Factor VIII deficiency disease",
      "HEMA",
      "Haemophilia A",
      "autosomal haemophilia a",
      "autosomal hemophilia a",
      "classic haemophilia",
      "classic hemophilia",
      "classical haemophilia",
      "classical hemophilia",
      "factor 8 deficiency",
      "haemophilia A, congenital",
      "hem A",
      "hemophilia A, congenital",
      "hemophilia, classic"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 18652,
      "label": "hemophilia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4359
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061030",
          "GARD:0010418",
          "MEDGEN:146334",
          "MedDRA:10061992",
          "NCIT:C3093",
          "Orphanet:448",
          "SCTID:90935002",
          "UMLS:C0684275"
        ],
        "synonyms": [
          "hemophilia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018660"
    },
    {
      "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": 11752,
      "label": "hemophilia A with vascular abnormality",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024740",
          "MEDGEN:336105",
          "MESH:C564415",
          "OMIM:306800",
          "UMLS:C1844137"
        ],
        "synonyms": [
          "hemophilia A with vascular abnormality"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010603"
    },
    {
      "id": 16479,
      "label": "severe hemophilia A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017059",
          "MEDGEN:543973",
          "Orphanet:169802",
          "SCTID:16872008",
          "UMLS:C0272322"
        ],
        "synonyms": [
          "severe factor VIII deficiency",
          "severe haemophilia type A",
          "severe hemophilia type A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015719"
    },
    {
      "id": 16480,
      "label": "moderately severe hemophilia A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017060",
          "MEDGEN:543974",
          "Orphanet:169805",
          "UMLS:C0272323"
        ],
        "synonyms": [
          "moderately severe factor VIII deficiency",
          "moderately severe haemophilia type A",
          "moderately severe hemophilia type A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015720"
    },
    {
      "id": 16481,
      "label": "mild hemophilia A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017061",
          "MEDGEN:543975",
          "Orphanet:169808",
          "SCTID:26029002",
          "UMLS:C0272324"
        ],
        "synonyms": [
          "mild factor VIII deficiency",
          "mild haemophilia type A",
          "mild hemophilia type A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015721"
    },
    {
      "id": 16541,
      "label": "symptomatic form of hemophilia A in female carriers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11751
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017076",
          "MEDGEN:1843218",
          "Orphanet:177926",
          "UMLS:C5680504"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015787"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 18652,
      "label": "hemophilia"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}