{
  "id": 14568,
  "label": "deafness-lymphedema-leukemia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013540",
  "properties": {
    "xrefs": [
      "GARD:0013030",
      "ICD9:757.0",
      "MEDGEN:481294",
      "OMIM:614038",
      "Orphanet:3226",
      "SCTID:700057001",
      "UMLS:C3279664",
      "icd11.foundation:1818043307"
    ],
    "synonyms": [
      "Emberger syndrome",
      "deafness-lymphedema-leukemia syndrome",
      "lymphedema, primary, with myelodysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        19049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050580",
          "GARD:0013057",
          "ICD10CM:Q82.0",
          "ICD9:757.0",
          "MEDGEN:140763",
          "OMIMPS:153100",
          "SCTID:254199006",
          "UMLS:C0398368"
        ],
        "synonyms": [
          "hereditary lymphedema",
          "lymphedema, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
      },
      "child_count": 84,
      "reference_id": "MONDO:0019313"
    },
    {
      "id": 23106,
      "label": "GATA2 deficiency with susceptibility to MDS/AML",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027059",
          "NCIT:C126349"
        ],
        "synonyms": [
          "GATA2 deficiency",
          "GATA2 deficiency with susceptibility to MDS/AML",
          "GATA2 deficiency/MonoMac syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML])."
      },
      "child_count": 2,
      "reference_id": "MONDO:0042982"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7217,
      "label": "hematologic disorder"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation"
    },
    {
      "id": 23106,
      "label": "GATA2 deficiency with susceptibility to MDS/AML"
    }
  ]
}