{
  "id": 17501,
  "label": "beta-thalassemia and related diseases",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017145",
  "properties": {
    "xrefs": [
      "GARD:0021023",
      "MEDGEN:1826095",
      "Orphanet:275749",
      "UMLS:C5680748"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 4394,
      "label": "anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2355",
          "HP:0001903",
          "ICD9:285.8",
          "ICD9:285.9",
          "MEDGEN:1526",
          "MESH:D000740",
          "NCIT:C2869",
          "SCTID:271737000",
          "UMLS:C0002871"
        ],
        "synonyms": [
          "anaemia (disease)",
          "anemia",
          "anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002280"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        23348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2860",
          "GARD:0018883",
          "ICD9:282.7",
          "MESH:D006453",
          "MedDRA:10060892",
          "NCIT:C3092",
          "Orphanet:68364",
          "SCTID:427306008"
        ],
        "synonyms": [
          "Hemoglobinopathies / iron metabolism",
          "hereditary hemoglobinopathy",
          "hemoglobinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."
      },
      "child_count": 34,
      "reference_id": "MONDO:0019050"
    }
  ],
  "children": [
    {
      "id": 11885,
      "label": "beta-thalassemia-X-linked thrombocytopenia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501,
        23840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111767",
          "GARD:0017166",
          "MEDGEN:326415",
          "MESH:C564050",
          "NCIT:C134941",
          "OMIM:314050",
          "Orphanet:231393",
          "SCTID:718196002",
          "UMLS:C1839161",
          "icd11.foundation:905057212"
        ],
        "synonyms": [
          "X-linked thrombocytopenia with Beta-thalassemia",
          "XLTT",
          "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive",
          "thrombocytopenia with BETA-thalassemia, X-linked",
          "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010745"
    },
    {
      "id": 16998,
      "label": "delta-beta-thalassemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080773",
          "GARD:0017165",
          "ICD10CM:D56.2",
          "ICD9:282.49",
          "MEDGEN:78790",
          "MESH:C562716",
          "MedDRA:10012236",
          "NCIT:C172823",
          "Orphanet:231237",
          "SCTID:16360009",
          "UMLS:C0271985"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016489"
    },
    {
      "id": 16999,
      "label": "hemoglobin C-beta-thalassemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020608",
          "MEDGEN:526128",
          "Orphanet:231242",
          "UMLS:C0221020"
        ],
        "synonyms": [
          "C-beta-thalassemia",
          "HBC-beta-thalassemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016490"
    },
    {
      "id": 17000,
      "label": "hemoglobin E-beta-thalassemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020609",
          "MEDGEN:632783",
          "Orphanet:231249",
          "UMLS:C0472777"
        ],
        "synonyms": [
          "E-beta-thalassemia",
          "HbE-beta-thalassemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016491"
    },
    {
      "id": 18196,
      "label": "hemoglobin Lepore-beta-thalassemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021505",
          "MEDGEN:1826060",
          "Orphanet:330032",
          "UMLS:C5679855"
        ],
        "synonyms": [
          "HbLepore-beta-thalassemia syndrome",
          "Lepore-beta-thalassemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018022"
    },
    {
      "id": 18717,
      "label": "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018642",
          "HGNC:3627",
          "HGNC:5153",
          "MEDGEN:543715",
          "Orphanet:46532",
          "UMLS:C0271994",
          "icd11.foundation:418601307"
        ],
        "synonyms": [
          "HPFH-beta-thalassemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018749"
    },
    {
      "id": 19231,
      "label": "beta thalassemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3252,
        6875,
        17501
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12241",
          "GARD:0000871",
          "ICD10CM:D56.1",
          "ICD9:282.44",
          "ICD9:282.49",
          "MEDGEN:2611",
          "MESH:D017086",
          "MedDRA:10043391",
          "NANDO:2201274",
          "NCIT:C34375",
          "NORD:1765",
          "Orphanet:848",
          "SCTID:65959000",
          "UMLS:C0005283",
          "icd11.foundation:2063292324"
        ],
        "synonyms": [
          "Beta thalassemia intermedia",
          "Beta thalassemia minor",
          "Thalassemias, beta-",
          "erythroblastic anaemia",
          "erythroblastic anemia",
          "thalassemia major",
          "thalassemia, Hispanic gamma-delta-beta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019402"
    }
  ],
  "roots": [
    {
      "id": 4394,
      "label": "anemia"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy"
    }
  ]
}