{
  "id": 20021,
  "label": "anemia due to enzyme disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020584",
  "properties": {
    "xrefs": [
      "GARD:0025177",
      "MEDGEN:105411",
      "NCIT:C35472",
      "UMLS:C0494226"
    ],
    "synonyms": [
      "anemia due to 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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10500,
      "label": "gamma-glutamylcysteine synthetase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        20021,
        22996
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111681",
          "GARD:0016631",
          "ICD9:270.8",
          "MEDGEN:347272",
          "MESH:C565557",
          "OMIM:230450",
          "Orphanet:33574",
          "SCTID:36799008",
          "UMLS:C1856603"
        ],
        "synonyms": [
          "anemia, congenital, nonspherocytic hemolytic, 7",
          "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to",
          "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to",
          "glutamate-cysteine ligase deficiency",
          "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency",
          "inborn error of glutamate-cysteine ligase activity",
          "inborn glutamate-cysteine ligase activity disorder",
          "rare inborn error of glutamate-cysteine ligase activity"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009259"
    },
    {
      "id": 10524,
      "label": "glutathione synthetase deficiency without 5-oxoprolinuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        18115,
        20021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112252",
          "GARD:0017331",
          "MEDGEN:343541",
          "MESH:C565545",
          "OMIM:231900",
          "Orphanet:289849",
          "UMLS:C1856399",
          "icd11.foundation:178842925"
        ],
        "synonyms": [
          "CNSHA6",
          "GSSDE",
          "anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient",
          "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to",
          "hemolytic anaemia due to glutathione synthetase deficiency",
          "hemolytic anemia due to glutathione synthetase deficiency",
          "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009284"
    },
    {
      "id": 19917,
      "label": "hemolytic anemia due to erythrocyte adenosine deaminase overproduction",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        19100,
        20021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051008",
          "GARD:0019669",
          "MEDGEN:400240",
          "MESH:C566314",
          "OMIM:102730",
          "OMIM:301083",
          "Orphanet:99138",
          "UMLS:C1863235",
          "icd11.foundation:1200845933"
        ],
        "synonyms": [
          "adenosine deaminase, elevated, hemolytic anaemia due to",
          "adenosine deaminase, elevated, hemolytic anemia due to",
          "anemia, congenital, nonspherocytic hemolytic, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020458"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4394,
      "label": "anemia"
    }
  ]
}