{
  "id": 18197,
  "label": "hemoglobin M disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018023",
  "properties": {
    "xrefs": [
      "GARD:0013007",
      "MEDGEN:777099",
      "MESH:C581942",
      "OMIM:617971",
      "Orphanet:330041",
      "SCTID:74912001",
      "UMLS:C3665425"
    ],
    "synonyms": [
      "M hemoglobinopathy",
      "methemoglobinemia, beta type",
      "autosomal dominant methemoglobinemia",
      "blue baby syndrome",
      "hereditary methemoglobinemia due to haemoglobin mutation",
      "hereditary methemoglobinemia due to hemoglobin mutation",
      "methemoglobinemia, beta-globin type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18885,
      "label": "hereditary methemoglobinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3365,
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002659",
          "ICD10CM:D74.0",
          "MEDGEN:473013",
          "MESH:C580280",
          "NCIT:C98898",
          "Orphanet:621",
          "SCTID:267550008",
          "UMLS:C0272087",
          "icd11.foundation:586921197"
        ],
        "synonyms": [
          "autosomal recessive methemoglobinemia",
          "congenital methemoglobinemia",
          "hereditary methemoglobinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018963"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18885,
      "label": "hereditary methemoglobinemia"
    }
  ]
}