{
  "id": 11681,
  "label": "X-linked sideroblastic anemia with ataxia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010524",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17096,
      "label": "X-linked cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050953",
          "DOID:0111828",
          "GARD:0020665",
          "Orphanet:247765"
        ],
        "synonyms": [
          "X-linked hereditary ataxia",
          "cerebellar ataxia, X-linked",
          "hereditary ataxia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of cerebellar ataxia."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016612"
    },
    {
      "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"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027984",
          "MEDGEN:155901",
          "NANDO:1200173",
          "NANDO:2100163",
          "UMLS:C0751651"
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0044970"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17096,
      "label": "X-linked cerebellar ataxia"
    },
    {
      "id": 19734,
      "label": "inherited sideroblastic anemia"
    },
    {
      "id": 23488,
      "label": "mitochondrial disease"
    }
  ]
}