{
  "id": 19034,
  "label": "myelodysplastic syndrome with ring sideroblasts",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019157",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16106,
      "label": "sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8955",
          "GARD:0018714",
          "ICD9:285.0",
          "MEDGEN:8067",
          "MESH:D000756",
          "MedDRA:10040661",
          "NANDO:2100179",
          "NANDO:2200616",
          "NCIT:C36078",
          "Orphanet:1047",
          "SCTID:41841004",
          "UMLS:C0002896"
        ],
        "synonyms": [
          "anaemia sideroblastic",
          "anemia sideroblastic",
          "sideroblastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015194"
    },
    {
      "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"
    },
    {
      "id": 24405,
      "label": "idiopathic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29381
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:548250",
          "UMLS:C0277553"
        ],
        "synonyms": [
          "idiopathic disorder"
        ],
        "definition": "A disease or disorder for which the cause is of uncertain or unknown."
      },
      "child_count": 79,
      "reference_id": "MONDO:0700007"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16106,
      "label": "sideroblastic anemia"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome"
    },
    {
      "id": 24405,
      "label": "idiopathic disease"
    }
  ]
}