{
  "id": 10825,
  "label": "methemoglobinemia type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009605",
  "properties": {
    "xrefs": [
      "DOID:0112316",
      "GARD:0015196",
      "MEDGEN:925090",
      "MESH:C567102",
      "OMIM:250790",
      "UMLS:C4285231"
    ],
    "synonyms": [
      "CYB5A methemoglobinemia",
      "methemoglobinemia caused by mutation in CYB5A",
      "methemoglobinemia type 4",
      "METAG",
      "isolated 17,20-lyase deficiency, Pure",
      "methemoglobinemia and ambiguous genitalia",
      "methemoglobinemia due to deficiency of cytochrome B5",
      "methemoglobinemia due to deficiency of cytochrome B5, formerly",
      "methemoglobinemia type IV",
      "methemoglobinemia type IV, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene."
  },
  "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"
    }
  ]
}