{
  "id": 19734,
  "label": "inherited sideroblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020099",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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": 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"
    }
  ],
  "children": [
    {
      "id": 3159,
      "label": "myopathy, lactic acidosis, and sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        10856,
        16918,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080099",
          "GARD:0003885",
          "MEDGEN:373888",
          "MESH:C536101",
          "OMIMPS:600462",
          "Orphanet:2598",
          "SCTID:724138007",
          "UMLS:C1838103",
          "icd11.foundation:678852156"
        ],
        "synonyms": [
          "MLASA",
          "MSA",
          "mitochondrial myopathy and sideroblastic anaemia",
          "mitochondrial myopathy and sideroblastic anemia",
          "myopathy, lactic acidosis and sideroblastic anaemia",
          "myopathy, lactic acidosis and sideroblastic anemia",
          "myopathy, lactic acidosis, and siderblastic anaemia",
          "myopathy, lactic acidosis, and siderblastic anemia",
          "myopathy with lactic acidosis and sideroblastic anaemia",
          "myopathy with lactic acidosis and sideroblastic anemia",
          "sideroblastic anaemia and mitochondrial myopathy",
          "sideroblastic anemia and mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000863"
    },
    {
      "id": 9717,
      "label": "autosomal dominant sideroblastic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060335",
          "GARD:0018380",
          "MEDGEN:902781",
          "MESH:C567160",
          "OMIM:182170",
          "UMLS:C4225428"
        ],
        "synonyms": [
          "sideroblastic anemia, autosomal dominant",
          "SIDBA4",
          "anemia, sideroblastic, 4",
          "anemia, sideroblastic, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Autosomal dominant form of sideroblastic anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008422"
    },
    {
      "id": 11681,
      "label": "X-linked sideroblastic anemia with ataxia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17096,
        19734,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050554",
          "DOID:0060064",
          "GARD:0000668",
          "MEDGEN:335078",
          "MESH:C536358",
          "OMIM:301310",
          "Orphanet:2802",
          "SCTID:719816006",
          "UMLS:C1845028"
        ],
        "synonyms": [
          "ASAT",
          "Pagon-Bird-Detter syndrome",
          "X-linked sideroblastic anaemia with spinocerebellar ataxia",
          "X-linked sideroblastic anemia with ataxia",
          "X-linked sideroblastic anemia with spinocerebellar ataxia",
          "XLSA-A",
          "anaemia sideroblastic and spinocerebellar ataxia",
          "anemia, sideroblastic, with ataxia, X-linked recessive",
          "sideroblastic anaemia with spinocerebellar ataxia",
          "sideroblastic anemia with spinocerebellar ataxia",
          "Pagon Bird Detter syndrome",
          "X-linked sideroblastic Anaemia and ataxia",
          "X-linked sideroblastic Anemia and ataxia",
          "X-linked sideroblastic anaemia and spinocerebellar ataxia",
          "X-linked sideroblastic anemia and spinocerebellar ataxia",
          "Xlsa-A",
          "anemia, Sex-linked hypochromic Siderobla",
          "anemia, sideroblastic, and spinocerebellar ataxia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010524"
    },
    {
      "id": 15103,
      "label": "severe congenital hypochromic anemia with ringed sideroblasts",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2723,
        3000,
        17107,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017364",
          "MEDGEN:815250",
          "OMIM:615234",
          "Orphanet:300298",
          "SCTID:725463007",
          "UMLS:C3808920"
        ],
        "synonyms": [
          "anemia, hypochromic microcytic, with iron overload type 2",
          "severe congenital hypochromic sideroblastic anaemia",
          "severe congenital hypochromic sideroblastic anemia",
          "AHMIO2",
          "anemia, hypochromic microcytic, with iron overload 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014094"
    },
    {
      "id": 15486,
      "label": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6778,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080209",
          "GARD:0017586",
          "MEDGEN:863609",
          "OMIM:616084",
          "Orphanet:369861",
          "UMLS:C4015172"
        ],
        "synonyms": [
          "SIFD",
          "SIFD syndrome",
          "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay",
          "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014487"
    },
    {
      "id": 17254,
      "label": "autosomal recessive sideroblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017240",
          "MEDGEN:895586",
          "Orphanet:260305",
          "SCTID:717050005",
          "UMLS:C4274077"
        ],
        "synonyms": [
          "congenital sideroblastic anaemia",
          "congenital sideroblastic anemia",
          "ARSA",
          "sideroblastic anemia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016828"
    },
    {
      "id": 20127,
      "label": "X-linked sideroblastic anemia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        17981,
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060063",
          "GARD:0009456",
          "MEDGEN:1638704",
          "MESH:C536761",
          "OMIM:300751",
          "Orphanet:75563",
          "SCTID:62677000",
          "UMLS:C4551511"
        ],
        "synonyms": [
          "X-linked sideroblastic anemia",
          "XLSA",
          "anemia, sideroblastic, 1, X-linked recessive",
          "sideroblastic anemia, X-linked",
          "ANH1",
          "SIDBA1",
          "X chromosome-linked sideroblastic anaemia",
          "X chromosome-linked sideroblastic anemia",
          "anaemia hereditary sideroblastic",
          "anaemia sex-linked hypochromic sideroblastic",
          "anemia hereditary sideroblastic",
          "anemia sex-linked hypochromic sideroblastic",
          "anemia, hereditary sideroblastic",
          "anemia, hypochromic",
          "anemia, sideroblastic, 1",
          "anemia, sideroblastic, X-linked",
          "erythroid 5-aminolevulinate synthase deficiency",
          "hereditary iron-loading Anaemia",
          "hereditary iron-loading Anemia",
          "sideroblastic anaemia X-linked",
          "sideroblastic anemia X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020721"
    },
    {
      "id": 21916,
      "label": "anemia, sideroblastic, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061007",
          "GARD:0025559",
          "MEDGEN:1794195",
          "OMIM:619523",
          "UMLS:C5561985"
        ],
        "synonyms": [
          "SIDBA5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030436"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16106,
      "label": "sideroblastic anemia"
    }
  ]
}