{
  "id": 14547,
  "label": "beta-thalassemia HBB/LCRB",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013517",
  "properties": {
    "xrefs": [
      "GARD:0024933",
      "OMIM:613985",
      "SCDO:0000251"
    ],
    "synonyms": [
      "thalassemia, beta",
      "thalassemia, hispanic gamma-delta-beta",
      "beta-thalassemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 16996,
      "label": "beta-thalassemia major",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14547
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080771",
          "GARD:0017162",
          "ICD9:282.49",
          "MEDGEN:283",
          "NCIT:C129699",
          "Orphanet:231214",
          "SCTID:26682008",
          "UMLS:C0002875"
        ],
        "synonyms": [
          "Beta thalassemia Major",
          "Cooley anaemia",
          "Cooley anemia",
          "Cooley's Anaemia",
          "Cooley's Anemia",
          "Mediterranean anaemia",
          "Mediterranean anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016486"
    },
    {
      "id": 16997,
      "label": "beta-thalassemia intermedia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14547
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080772",
          "GARD:0017163",
          "ICD9:282.49",
          "MEDGEN:450544",
          "MedDRA:10062923",
          "Orphanet:231222",
          "SCTID:191189009",
          "UMLS:C0472767"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016487"
    },
    {
      "id": 23299,
      "label": "thalassemia minor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14547
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080774",
          "GARD:0025885",
          "ICD10CM:D56.3",
          "MEDGEN:450549",
          "MedDRA:10054662",
          "SCDO:0000114",
          "SCTID:19442009",
          "UMLS:C0869532"
        ],
        "synonyms": [
          "beta thalassemia trait"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The inheritance of only one mutated beta-globin allele (beta+ or beta0)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044210"
    }
  ],
  "roots": [
    {
      "id": 19231,
      "label": "beta thalassemia"
    }
  ]
}