{
  "id": 18812,
  "label": "myelodysplastic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018881",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 16513,
      "label": "myeloid hemopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4440
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020130",
          "MEDGEN:1842523",
          "Orphanet:171895",
          "UMLS:C5680514"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0015756"
    },
    {
      "id": 20301,
      "label": "neoplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        21214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:362147",
          "NCIT:C54705",
          "UMLS:C1882062"
        ],
        "synonyms": [
          "cancer-related syndrome",
          "neoplastic syndrome",
          "tumor syndrome",
          "tumour syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired."
      },
      "child_count": 22,
      "reference_id": "MONDO:0021058"
    }
  ],
  "children": [
    {
      "id": 6970,
      "label": "myelodysplastic syndrome with single lineage dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003802",
          "GARD:0019585",
          "ICD9:238.72",
          "ICDO:9980/3",
          "MEDGEN:415300",
          "MESH:D000753",
          "MedDRA:10038269",
          "NCIT:C2872",
          "NCIT:C82591",
          "Orphanet:98826",
          "SCTID:109996008",
          "SCTID:1153345005",
          "UMLS:C2826318",
          "icd11.foundation:149518956"
        ],
        "synonyms": [
          "MDS with single lineage dysplasia",
          "MDS-SLD",
          "RA",
          "refractory anaemia",
          "refractory anemia",
          "aregenerative anaemia",
          "aregenerative anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005272"
    },
    {
      "id": 9258,
      "label": "myelodysplastic syndrome associated with isolated del(5q)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4395,
        5714,
        17323,
        18812
      ],
      "type_id": 0,
      "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)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0007925"
    },
    {
      "id": 16457,
      "label": "refractory anemia with excess blasts in transformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5945,
        18812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020108",
          "ICD9:238.73",
          "ICDO:9984/3",
          "MEDGEN:124692",
          "MedDRA:10038271",
          "NCIT:C27080",
          "Orphanet:168960",
          "SCTID:110000005",
          "UMLS:C0280028"
        ],
        "synonyms": [
          "RAEB-T",
          "RAEB-t"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015692"
    },
    {
      "id": 19034,
      "label": "myelodysplastic syndrome with ring sideroblasts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16106,
        18812,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003812",
          "GARD:0008249",
          "ICD10CM:D46.1",
          "ICD9:238.72",
          "ICDO:9982/3",
          "MEDGEN:865038",
          "NCIT:C4036",
          "Orphanet:75564",
          "SCTID:109998009",
          "UMLS:C4016601",
          "icd11.foundation:1793160341"
        ],
        "synonyms": [
          "AISA",
          "MDS with ring sideroblasts",
          "MDS-RS",
          "Pure sideroblastic Anaemia",
          "Pure sideroblastic Anemia",
          "RARS",
          "acquired idiopathic sideroblastic anaemia",
          "acquired idiopathic sideroblastic anemia",
          "myelodysplastic syndrome with Ring sideroblasts",
          "primary acquired sideroblastic anaemia",
          "primary acquired sideroblastic anemia",
          "refractory Anaemia with Ring sideroblasts",
          "refractory Anaemia with ringed sideroblasts",
          "refractory Anemia with Ring sideroblasts",
          "refractory Anemia with ringed sideroblasts",
          "refractory anaemia with ringed sideroblasts",
          "refractory anemia with ringed sideroblasts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019157"
    },
    {
      "id": 19279,
      "label": "myelodysplastic syndrome with multilineage dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5945,
        18812
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019453"
    },
    {
      "id": 19280,
      "label": "myelodysplastic syndrome with excess blasts",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18812,
        23467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0003811",
          "GARD:0019070",
          "ICDO:9983/3",
          "MEDGEN:8066",
          "MESH:D000754",
          "MedDRA:10038270",
          "NCIT:C7506",
          "Orphanet:86839",
          "SCTID:398623004",
          "UMLS:C0002894"
        ],
        "synonyms": [
          "MDS-EB",
          "RAEB",
          "myelodysplastic syndrome with Excess blasts",
          "refractory Anaemia with Excess blasts",
          "refractory Anaemia with an Excess of blasts",
          "refractory Anemia with Excess blasts",
          "refractory Anemia with an Excess of blasts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019454"
    },
    {
      "id": 23376,
      "label": "familial monosomy 7 syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020827",
          "MEDGEN:1826116",
          "OMIMPS:252270",
          "Orphanet:495930",
          "UMLS:C5681220"
        ],
        "synonyms": [
          "monosomy 7 myelodysplasia and leukaemia syndrome",
          "monosomy 7 myelodysplasia and leukemia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor."
      },
      "child_count": 4,
      "reference_id": "MONDO:0044645"
    },
    {
      "id": 23460,
      "label": "childhood myelodysplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18812
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025913",
          "MEDGEN:389541",
          "NANDO:2100003",
          "NANDO:2200019",
          "NCIT:C68744",
          "UMLS:C2347761"
        ],
        "synonyms": [
          "myelodysplastic syndrome",
          "childhood MDS",
          "childhood myelodysplastic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults."
      },
      "child_count": 1,
      "reference_id": "MONDO:0044873"
    }
  ],
  "roots": [
    {
      "id": 16513,
      "label": "myeloid hemopathy"
    },
    {
      "id": 20301,
      "label": "neoplastic syndrome"
    }
  ]
}