{
  "id": 10826,
  "label": "methemoglobinemia due to deficiency of methemoglobin reductase",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009606",
  "properties": {
    "xrefs": [
      "GARD:0015197",
      "MEDGEN:75661",
      "OMIM:250800",
      "UMLS:C0268193"
    ],
    "synonyms": [
      "methemoglobinemia due to deficiency of methemoglobin reductase",
      "methemoglobinemia, type I",
      "methemoglobinemia, type II",
      "NADH cytochrome B5 reductase deficiency",
      "NADH diaphorase deficiency",
      "NADH methemoglobin reductase deficiency",
      "NADH-cytochrome B5 reductase deficiency",
      "NADH-cytochrome B5 reductase deficiency, type 1",
      "NADH-cytochrome B5 reductase deficiency, type 2",
      "NADH-dependent methemoglobin reductase deficiency",
      "methemoglobinemia, congenital, autosomal recessive",
      "methemoglobinemia, type 1",
      "methemoglobinemia, type 2"
    ],
    "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"
    }
  ]
}