{
  "id": 18885,
  "label": "hereditary methemoglobinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018963",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 3365,
      "label": "methemoglobinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10783",
          "GARD:0022885",
          "ICD10CM:D74",
          "ICD9:289.7",
          "MEDGEN:6339",
          "MESH:D008708",
          "MedDRA:10027496",
          "NCIT:C34817",
          "SCTID:38959009",
          "UMLS:C0025637"
        ],
        "synonyms": [
          "methemoglobinemias"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001117"
    },
    {
      "id": 4394,
      "label": "anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2355",
          "HP:0001903",
          "ICD9:285.8",
          "ICD9:285.9",
          "MEDGEN:1526",
          "MESH:D000740",
          "NCIT:C2869",
          "SCTID:271737000",
          "UMLS:C0002871"
        ],
        "synonyms": [
          "anaemia (disease)",
          "anemia",
          "anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability."
      },
      "child_count": 19,
      "reference_id": "MONDO:0002280"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        23348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2860",
          "GARD:0018883",
          "ICD9:282.7",
          "MESH:D006453",
          "MedDRA:10060892",
          "NCIT:C3092",
          "Orphanet:68364",
          "SCTID:427306008"
        ],
        "synonyms": [
          "Hemoglobinopathies / iron metabolism",
          "hereditary hemoglobinopathy",
          "hemoglobinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."
      },
      "child_count": 34,
      "reference_id": "MONDO:0019050"
    }
  ],
  "children": [
    {
      "id": 10824,
      "label": "methemoglobin reductase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18885
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009604"
    },
    {
      "id": 10825,
      "label": "methemoglobinemia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18885
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009605"
    },
    {
      "id": 10826,
      "label": "methemoglobinemia due to deficiency of methemoglobin reductase",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18885
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009606"
    },
    {
      "id": 18197,
      "label": "hemoglobin M disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18885
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018023"
    },
    {
      "id": 20219,
      "label": "methemoglobinemia, alpha type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016277",
          "MEDGEN:1635511",
          "OMIM:617973",
          "UMLS:C4693798"
        ],
        "synonyms": [
          "methemoglobinemia, alpha type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020835"
    }
  ],
  "roots": [
    {
      "id": 3365,
      "label": "methemoglobinemia"
    },
    {
      "id": 4394,
      "label": "anemia"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy"
    }
  ]
}