{
  "id": 9258,
  "label": "myelodysplastic syndrome associated with isolated del(5q)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007925",
  "properties": {
    "xrefs": [
      "DOID:0090016",
      "GARD:0008723",
      "ICD10CM:D46.C",
      "ICDO:9986/3",
      "MEDGEN:226950",
      "MESH:C535323",
      "NCIT:C6867",
      "OMIM:153550",
      "Orphanet:86841",
      "SCTID:277597005",
      "UMLS:C1292779",
      "icd11.foundation:420472577"
    ],
    "synonyms": [
      "5Q minus syndrome",
      "5Q- syndrome",
      "5q- syndrome",
      "5q- syndrome, refractory macrocytic anaemia due to 5q deletion",
      "chromosome 5q deletion syndrome",
      "macrocytic anemia, refractory, due to 5q deletion, somatic",
      "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality",
      "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality",
      "myelodysplastic syndrome with 5q deletion",
      "myelodysplastic syndrome with isolated del(5q)",
      "5q deletion syndrome",
      "5q syndrome",
      "MAR",
      "macrocytic Anemia, refractory, due to 5Q deletion",
      "megakaryocytes, unilobular nucleated",
      "refractory macrocytic anaemia due to 5q deletion",
      "refractory macrocytic anemia due to 5q deletion"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4395,
      "label": "macrocytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2361",
          "HP:0001972",
          "MEDGEN:1920",
          "MESH:D000748",
          "NCIT:C34381",
          "SCTID:83414005",
          "UMLS:C0002886"
        ],
        "synonyms": [
          "D22S676",
          "D22S750",
          "anaemia macrocytic",
          "anemia macrocytic",
          "macrocytic Anemia",
          "macrocytic anaemia (disease)",
          "macrocytic anaemia of unspecified cause",
          "macrocytic anemia",
          "macrocytic anemia (disease)",
          "macrocytic anemia of unspecified cause"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia that is characterized by increased red blood cell volume."
      },
      "child_count": 2,
      "reference_id": "MONDO:0002281"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:262038",
          "icd11.foundation:285885131"
        ],
        "synonyms": [
          "partial deletion of chromosome 5q",
          "partial deletion of the long arm of chromosome type 5",
          "partial monosomy of chromosome 5q",
          "partial monosomy of the long arm of chromosome 5"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016904"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 4395,
      "label": "macrocytic anemia"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome"
    }
  ]
}