{
  "id": 3252,
  "label": "thalassemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000984",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 12504,
      "label": "alpha thalassemia spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1099",
          "GARD:0000621",
          "ICD10CM:D56.0",
          "ICD9:282.43",
          "ICD9:282.49",
          "MEDGEN:1434",
          "MESH:D017085",
          "MedDRA:10043390",
          "NANDO:2201273",
          "NCIT:C34368",
          "OMIM:604131",
          "Orphanet:846",
          "SCTID:68913001",
          "UMLS:C0002312",
          "icd11.foundation:531667506"
        ],
        "synonyms": [
          "alpha thalassaemia",
          "alpha thalassemia spectrum",
          "alpha-thalassemia",
          "thalassemia, alpha-",
          "thalassemias, alpha-",
          "A-thalassemia",
          "alpha-thalassemia trait"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011399"
    },
    {
      "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": 18953,
      "label": "inherited hemoglobinopathy"
    }
  ]
}