{
  "id": 17254,
  "label": "autosomal recessive sideroblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016828",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10056,
      "label": "sideroblastic anemia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060065",
          "GARD:0018381",
          "MEDGEN:899109",
          "MESH:C567145",
          "OMIM:205950",
          "UMLS:C4225425"
        ],
        "synonyms": [
          "SIDBA2",
          "anemia, sideroblastic, 2, pyridoxine-refractory",
          "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive",
          "pyridoxine refractory sideroblastic anaemia",
          "pyridoxine refractory sideroblastic anemia",
          "sideroblastic anaemia pyridoxine-refractory autosomal recessive",
          "sideroblastic anemia pyridoxine-refractory autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008785"
    },
    {
      "id": 15792,
      "label": "sideroblastic anemia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17234,
        17254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080343",
          "GARD:0017235",
          "MEDGEN:895975",
          "OMIM:616860",
          "Orphanet:255132",
          "SCTID:720465002",
          "UMLS:C4225155"
        ],
        "synonyms": [
          "GLRX5-related sideroblastic anaemia",
          "GLRX5-related sideroblastic anemia",
          "SIDBA3",
          "adult-onset autosomal recessive sideroblastic anaemia",
          "adult-onset autosomal recessive sideroblastic anemia",
          "anemia, sideroblastic, 3, pyridoxine-refractory"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014804"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19734,
      "label": "inherited sideroblastic anemia"
    }
  ]
}