{
  "id": 11934,
  "label": "Pearson syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010797",
  "properties": {
    "xrefs": [
      "DOID:0060067",
      "GARD:0007343",
      "ICD9:277.87",
      "MEDGEN:87459",
      "MedDRA:10062941",
      "NCIT:C115326",
      "OMIM:557000",
      "Orphanet:699",
      "SCTID:237985009",
      "UMLS:C0342784",
      "icd11.foundation:452521132"
    ],
    "synonyms": [
      "Pearson marrow-pancreas syndrome",
      "Pearson's marrow/pancreas syndrome",
      "Pearson's syndrome",
      "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction",
      "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction",
      "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)",
      "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}