{
  "id": 19231,
  "label": "beta thalassemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019402",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3252,
      "label": "thalassemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10241",
          "EFO:1001996",
          "GARD:0007756",
          "ICD10CM:D56",
          "ICD9:282.4",
          "ICD9:282.40",
          "ICD9:282.49",
          "MEDGEN:21121",
          "MESH:D013789",
          "NANDO:2200626",
          "NCIT:C35069",
          "SCTID:40108008",
          "UMLS:C0039730"
        ],
        "synonyms": [
          "sickle-cell thalassemia with crisis",
          "sickle-cell thalassemia without crisis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000984"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    },
    {
      "id": 17501,
      "label": "beta-thalassemia and related diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021023",
          "MEDGEN:1826095",
          "Orphanet:275749",
          "UMLS:C5680748"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017145"
    }
  ],
  "children": [
    {
      "id": 9834,
      "label": "thalassemia, beta+, silent allele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19231
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024628",
          "MEDGEN:349988",
          "MESH:C566065",
          "OMIM:187550",
          "UMLS:C1861232"
        ],
        "synonyms": [
          "thalassemia, beta+, silent allele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008545"
    },
    {
      "id": 12488,
      "label": "dominant beta-thalassemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19231
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080770",
          "GARD:0017164",
          "MEDGEN:347036",
          "MESH:C565834",
          "OMIM:603902",
          "Orphanet:231226",
          "SCTID:716682000",
          "UMLS:C1858990"
        ],
        "synonyms": [
          "inclusion body beta-thalassemia",
          "thalassemia-beta, dominant inclusion-body",
          "beta-thalassemia, dominant inclusion body type",
          "dyserythropoietic Anemia, congenital, Irish or Weatherall type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011381"
    },
    {
      "id": 14547,
      "label": "beta-thalassemia HBB/LCRB",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19231
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0013517"
    }
  ],
  "roots": [
    {
      "id": 3252,
      "label": "thalassemia"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder"
    },
    {
      "id": 17501,
      "label": "beta-thalassemia and related diseases"
    }
  ]
}