{
  "id": 11638,
  "label": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010480",
  "properties": {
    "xrefs": [
      "DOID:0051003",
      "GARD:0006520",
      "MEDGEN:403555",
      "MESH:C567533",
      "OMIM:300908",
      "Orphanet:466026",
      "UMLS:C2720289"
    ],
    "synonyms": [
      "Class I G6PD deficiency",
      "anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient",
      "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
      "class I glucose-6-phosphate dehydrogenase deficiency",
      "hemolytic anaemia due to G6PD deficiency",
      "hemolytic anemia due to G6PD deficiency",
      "hemolytic anemia, G6PD deficient (favism), X-linked dominant",
      "severe hemolytic anaemia due to G6PD deficiency",
      "severe hemolytic anemia due to G6PD deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2724,
      "label": "anemia, nonspherocytic hemolytic",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7998
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022711",
          "MEDGEN:871250",
          "UMLS:C4025735"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000105"
    },
    {
      "id": 7395,
      "label": "G6PD deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2862",
          "EFO:0007287",
          "MEDGEN:473706",
          "MESH:D005955",
          "NANDO:2200627",
          "NCIT:C98933",
          "SCTID:62403005",
          "UMLS:C2939465"
        ],
        "synonyms": [
          "G-6-PD variant enzyme deficiency Anaemia",
          "G-6-PD variant enzyme deficiency Anemia",
          "G6PD",
          "G6PD deficiency",
          "glucose-6-phosphate dehydrogenase deficiency",
          "glucosephosphate dehydrogenase deficiency",
          "inborn error of glucose-6-phosphate dehydrogenase activity",
          "inborn glucose-6-phosphate dehydrogenase activity disorder",
          "rare inborn error of glucose-6-phosphate dehydrogenase activity"
        ],
        "definition": "An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005775"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18607
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018962",
          "MEDGEN:1842861",
          "Orphanet:79186",
          "UMLS:C5681279",
          "icd11.foundation:2067324607"
        ],
        "synonyms": [
          "disorder of pentose phosphate metabolism"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019231"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025178",
          "MEDGEN:1383362",
          "NCIT:C131630",
          "UMLS:C4329304"
        ],
        "synonyms": [
          "anemia due to erythrocyte enzyme disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020585"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2724,
      "label": "anemia, nonspherocytic hemolytic"
    },
    {
      "id": 7395,
      "label": "G6PD deficiency"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder"
    }
  ]
}