{
  "id": 16106,
  "label": "sideroblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015194",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4394,
      "label": "anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2355",
          "HP:0001903",
          "ICD9:285.8",
          "ICD9:285.9",
          "MEDGEN:1526",
          "MESH:D000740",
          "NCIT:C2869",
          "SCTID:271737000",
          "UMLS:C0002871"
        ],
        "synonyms": [
          "anaemia (disease)",
          "anemia",
          "anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002280"
    }
  ],
  "children": [
    {
      "id": 10057,
      "label": "pyridoxine-responsive sideroblastic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060066",
          "GARD:0009872",
          "MEDGEN:395346",
          "MESH:C565954",
          "OMIM:206000",
          "SCTID:191260004",
          "UMLS:C1859787"
        ],
        "synonyms": [
          "B6-responsive sideroblastic anaemia",
          "B6-responsive sideroblastic anemia",
          "anaemia congenital sideroblastic B6-responsive",
          "anemia congenital sideroblastic B6-responsive",
          "anemia, congenital sideroblastic, B6-responsive",
          "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive",
          "sideroblastic anaemia pyridoxine-responsive autosomal recessive",
          "sideroblastic anemia pyridoxine-responsive autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008786"
    },
    {
      "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": 19734,
      "label": "inherited sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019453",
          "MEDGEN:65119",
          "NANDO:1200892",
          "OMIMPS:300751",
          "Orphanet:98362",
          "UMLS:C0221018",
          "icd11.foundation:789053868"
        ],
        "synonyms": [
          "constitutional sideroblastic anaemia",
          "constitutional sideroblastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0020099"
    }
  ],
  "roots": [
    {
      "id": 4394,
      "label": "anemia"
    }
  ]
}