{
  "id": 10824,
  "label": "methemoglobin reductase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009604",
  "properties": {
    "xrefs": [
      "GARD:0003909",
      "MEDGEN:501116",
      "MESH:C563171",
      "OMIM:250700",
      "SCTID:234397008",
      "UMLS:C0472786"
    ],
    "synonyms": [
      "methemoglobin reductase deficiency",
      "NADPH-dependent methemoglobin reductase deficiency",
      "TPNH-methemoglobin reductase deficiency"
    ],
    "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"
    }
  ]
}