{
  "id": 20022,
  "label": "anemia due to erythrocyte enzyme disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020585",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 20021,
      "label": "anemia due to enzyme disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020584"
    }
  ],
  "children": [
    {
      "id": 10360,
      "label": "hemolytic anemia due to diphosphoglycerate mutase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        18954,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111630",
          "GARD:0001874",
          "MEDGEN:489898",
          "NCIT:C131638",
          "OMIM:222800",
          "Orphanet:714",
          "UMLS:C1291620"
        ],
        "synonyms": [
          "diphosphoglycerate phosphatase deficiency",
          "erythrocytosis, familial, 8",
          "BPGM deficiency",
          "DPGM deficiency",
          "bisphosphoglycerate mutase deficiency",
          "bisphosphoglyceromutase deficiency",
          "diphosphoglycerate mutase deficiency of erythrocyte"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009113"
    },
    {
      "id": 10534,
      "label": "glycogen storage disease VII",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4502,
        5573,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11721",
          "GARD:0005686",
          "MEDGEN:5342",
          "MESH:D006014",
          "MedDRA:10053241",
          "NANDO:1200823",
          "NANDO:1200829",
          "NANDO:2200543",
          "NCIT:C118437",
          "NORD:1196",
          "OMIM:232800",
          "Orphanet:371",
          "SCTID:89597008",
          "UMLS:C0017926"
        ],
        "synonyms": [
          "GSD due to muscle phosphofructokinase deficiency",
          "GSD type 7",
          "GSD type VII",
          "GSDVII",
          "Glycogen Storage Disease Type 7",
          "PFKM glycogen storage disease",
          "Tarui disease",
          "glycogen storage disease VII",
          "glycogen storage disease caused by mutation in PFKM",
          "glycogen storage disease type 7",
          "glycogen storage disease type VII",
          "glycogenosis due to muscle phosphofructokinase deficiency",
          "glycogenosis type 7",
          "glycogenosis type VII",
          "phosphofructokinase deficiency",
          "GSD 7",
          "GSD7",
          "Pfkm deficiency",
          "glycogen storage disease 7",
          "glycogen storage disease due to muscle phosphofructokinase deficiency",
          "muscle phosphofructokinase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009295"
    },
    {
      "id": 10572,
      "label": "non-spherocytic hemolytic anemia due to hexokinase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051006",
          "GARD:0003672",
          "MEDGEN:461693",
          "MESH:C562995",
          "OMIM:235700",
          "Orphanet:90031",
          "UMLS:C3150343"
        ],
        "synonyms": [
          "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient",
          "hemolytic anaemia due to hexokinase deficiency",
          "hemolytic anemia due to hexokinase deficiency",
          "hemolytic anemia, nonspherocytic, due to hexokinase deficiency",
          "nonspherocytic hemolytic anaemia due to hexokinase deficiency",
          "nonspherocytic hemolytic anemia due to hexokinase deficiency",
          "hexokinase deficiency hemolytic anaemia",
          "hexokinase deficiency hemolytic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009340"
    },
    {
      "id": 11105,
      "label": "cutaneous porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19020,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13271",
          "GARD:0004446",
          "MEDGEN:1861084",
          "MESH:D017092",
          "NANDO:1200817",
          "NANDO:2201268",
          "NCIT:C84697",
          "NORD:1599",
          "OMIM:263700",
          "Orphanet:79277",
          "SCTID:67312003",
          "UMLS:C5886774"
        ],
        "synonyms": [
          "CEP",
          "Congenital Erythropoietic Porphyria",
          "Günther disease",
          "UROS-related erythropoietic porphyria",
          "cutaneous porphyria",
          "erythropoietic porphyria",
          "Cep",
          "Gunther disease",
          "Uros deficiency",
          "congenital erythropoietic porphyria",
          "congenital porphyria",
          "porphyria, congenital erythropoietic",
          "uroporphyrinogen 3 synthase deficiency",
          "uroporphyrinogen III synthase, deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009902"
    },
    {
      "id": 11151,
      "label": "pyruvate kinase deficiency of red cells",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111077",
          "GARD:0007514",
          "MEDGEN:473069",
          "MESH:C564858",
          "NANDO:2200628",
          "NCIT:C99037",
          "NORD:1642",
          "OMIM:266200",
          "Orphanet:766",
          "SCTID:124331002",
          "UMLS:C0340968"
        ],
        "synonyms": [
          "PK deficiency",
          "Pyruvate Kinase Deficiency",
          "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient",
          "hemolytic anaemia due to pyruvate Kinase deficiency",
          "hemolytic anaemia due to red cell pyruvate kinase deficiency",
          "hemolytic anemia due to pyruvate Kinase deficiency",
          "hemolytic anemia due to red cell pyruvate kinase deficiency",
          "pyruvate kinase deficiency",
          "pyruvate kinase deficiency of erythrocyte",
          "pyruvate kinase deficiency of erythrocytes",
          "pyruvate kinase deficiency of red cells"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009950"
    },
    {
      "id": 11638,
      "label": "anemia, nonspherocytic hemolytic, due to G6PD deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2724,
        7395,
        19095,
        20022
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010480"
    },
    {
      "id": 13787,
      "label": "glycogen storage disease due to aldolase A deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000600",
          "ICD9:282.3",
          "MEDGEN:82895",
          "MESH:C562718",
          "NANDO:1200834",
          "OMIM:611881",
          "Orphanet:57",
          "SCTID:111578003",
          "UMLS:C0272066",
          "icd11.foundation:1020924235"
        ],
        "synonyms": [
          "GSD due to aldolase A deficiency",
          "GSD type 12",
          "GSD type XII",
          "glycogen storage disease due to aldolase A deficiency",
          "glycogen storage disease type 12",
          "glycogen storage disease type XII",
          "glycogenosis due to aldolase A deficiency",
          "glycogenosis type 12",
          "glycogenosis type XII",
          "Aldoa deficiency",
          "GSD 12",
          "GSD12",
          "Red cell aldolase deficiency",
          "aldolase a deficiency",
          "aldolase deficiency red cell",
          "aldolase deficiency, Red cell",
          "glycogen storage disease 12",
          "glycogen storage disease XII"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012747"
    },
    {
      "id": 14310,
      "label": "hemolytic anemia due to glucophosphate isomerase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051005",
          "GARD:0016541",
          "MEDGEN:543776",
          "OMIM:613470",
          "Orphanet:712",
          "UMLS:C0272064"
        ],
        "synonyms": [
          "CNSHA4",
          "anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient",
          "glucosephosphate isomerase deficiency",
          "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013275"
    },
    {
      "id": 15227,
      "label": "triosephosphate isomerase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4915,
        5573,
        17928,
        20022
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050884",
          "GARD:0005287",
          "ICD9:282.3",
          "MEDGEN:349893",
          "MESH:C566029",
          "NCIT:C131652",
          "NORD:1793",
          "OMIM:615512",
          "Orphanet:868",
          "SCTID:234405009",
          "UMLS:C1860808"
        ],
        "synonyms": [
          "hemolytic anaemia due to triosephosphate isomerase deficiency",
          "hemolytic anemia due to triosephosphate isomerase deficiency",
          "triose phosphate-isomerase deficiency",
          "triosephosphate isomerase deficiency",
          "TPI deficiency",
          "TPID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014221"
    }
  ],
  "roots": [
    {
      "id": 20021,
      "label": "anemia due to enzyme disorder"
    }
  ]
}