{
  "id": 19279,
  "label": "myelodysplastic syndrome with multilineage dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019453",
  "properties": {
    "xrefs": [
      "GARD:0019069",
      "ICD10CM:D46.A",
      "ICD9:238.72",
      "ICDO:9985/3",
      "MEDGEN:208726",
      "MedDRA:10067959",
      "NCIT:C8574",
      "Orphanet:86836",
      "SCTID:415285009",
      "UMLS:C0796466"
    ],
    "synonyms": [
      "MDS-MLD",
      "RCMD",
      "refractory cytopenia with multilineage dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5945,
      "label": "refractory hematologic cancer",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:712",
          "GARD:0023831",
          "MEDGEN:233400",
          "NCIT:C27357",
          "UMLS:C1335724"
        ],
        "synonyms": [
          "refractory hematologic cancer",
          "refractory hematologic malignancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A hematologic malignancy that is resistant to treatment."
      },
      "child_count": 6,
      "reference_id": "MONDO:0004111"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16513,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050908",
          "EFO:0000198",
          "GARD:0007132",
          "ICD10CM:D46",
          "ICD9:238.7",
          "ICD9:238.75",
          "ICDO:9989/3",
          "MEDGEN:483005",
          "MedDRA:10028532",
          "NANDO:2100003",
          "NANDO:2200019",
          "NCIT:C3247",
          "NORD:1480",
          "OMIM:614286",
          "ONCOTREE:MDS",
          "Orphanet:52688",
          "SCTID:109995007",
          "UMLS:C3463824"
        ],
        "synonyms": [
          "MDS",
          "MDS, unclassifiable",
          "MDS-U",
          "Myelodysplastic Syndromes",
          "dysmyelopoietic syndrome",
          "hematopoeitic - myelodysplastic syndrome (MDS)",
          "myelodysplasia",
          "myelodysplastic neoplasm",
          "myelodysplastic syndrome",
          "myelodysplastic syndrome, somatic",
          "myelodysplastic syndrome, unclassifiable",
          "myelodysplastic syndrome/neoplasm",
          "myelodysplastic syndromes",
          "oligoblastic leukaemia",
          "oligoblastic leukemia",
          "preleukemia",
          "smoldering leukemia",
          "smouldering leukaemia",
          "myelodysplastic syndrome, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"
      },
      "child_count": 16,
      "reference_id": "MONDO:0018881"
    }
  ],
  "children": [
    {
      "id": 16065,
      "label": "aregenerative anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19279
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019778",
          "MEDGEN:639969",
          "MedDRA:10054329",
          "Orphanet:101096",
          "SCTID:89112009",
          "UMLS:C0553669"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015100"
    },
    {
      "id": 22739,
      "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10564,
        16087,
        16471,
        18362,
        18956,
        18958,
        19279,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022071",
          "MEDGEN:1799320",
          "Orphanet:508542",
          "UMLS:C5567897"
        ],
        "synonyms": [
          "MYSM1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033683"
    }
  ],
  "roots": [
    {
      "id": 5945,
      "label": "refractory hematologic cancer"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome"
    }
  ]
}