{
  "id": 24288,
  "label": "digenic alpha thalassemia spectrum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100563",
  "properties": {
    "xrefs": [
      "GARD:0026282"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 14542,
      "label": "hemoglobin H disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110031",
          "GARD:0016829",
          "ICD9:282.49",
          "MEDGEN:468531",
          "MedDRA:10063435",
          "NCIT:C95504",
          "OMIM:613978",
          "Orphanet:93616",
          "SCTID:48553001",
          "UMLS:C3161174",
          "icd11.foundation:9436211"
        ],
        "synonyms": [
          "Alpha-thalassemia intermedia",
          "HBA1;HBA2 digenic triallelic hemoglobin H disease",
          "HBH",
          "HbH",
          "HbH disease",
          "alpha-thalassemia intermedia",
          "haemoglobin H disease, deletional and nondeletional",
          "hemoglobin H disease",
          "hemoglobin H disease caused by triallelic variation in HBA1;HBA2",
          "hemoglobin H disease related to triallelic variation in HBA1 and HBA2",
          "hemoglobin H disease, deletional",
          "hemoglobin H disease, deletional and nondeletional",
          "Alpha-thalassemia, Haemoglobin H type",
          "Alpha-thalassemia, Hemoglobin H type",
          "HEMOGLOBIN H disease",
          "Haemoglobin H disease, Deletional",
          "Haemoglobin H disease, Nondeletional",
          "Hemoglobin H disease, Deletional",
          "Hemoglobin H disease, Nondeletional"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013512"
    },
    {
      "id": 16382,
      "label": "Hb Bart's hydrops fetalis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10601,
        24288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016992",
          "ICD9:282.49",
          "MEDGEN:543726",
          "Orphanet:163596",
          "SCTID:5300004",
          "UMLS:C0272005"
        ],
        "synonyms": [
          "Alpha-thalassemia major",
          "HBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalis",
          "Haemoglobin Bart's hydrops fetalis",
          "Hb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2",
          "Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2",
          "Hemoglobin Bart's hydrops fetalis",
          "alpha-thalassemia hydrops fetalis",
          "homozygous alpha0-thalassemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015579"
    },
    {
      "id": 24289,
      "label": "HBA1; HBA2-related digenic alpha thalassemia spectrum",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24288
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026283"
        ],
        "synonyms": [
          "alpha-thalassemia trait"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100564"
    }
  ],
  "roots": [
    {
      "id": 12504,
      "label": "alpha thalassemia spectrum"
    }
  ]
}