{
  "id": 14542,
  "label": "hemoglobin H disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013512",
  "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)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24288,
      "label": "digenic alpha thalassemia spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12504
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100563"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24288,
      "label": "digenic alpha thalassemia spectrum"
    }
  ]
}