{
  "id": 7998,
  "label": "congenital nonspherocytic hemolytic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006506",
  "properties": {
    "xrefs": [
      "DOID:2861",
      "EFO:1000641",
      "GARD:0024433",
      "ICD9:282.3",
      "MEDGEN:284",
      "MESH:D000746",
      "OMIMPS:300908",
      "SCTID:301317008",
      "UMLS:C0002882"
    ],
    "synonyms": [
      "anemia, congenital, nonspherocytic hemolytic"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 3000,
      "label": "congenital anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022807",
          "MEDGEN:102361",
          "NCIT:C35228",
          "SCTID:63565007",
          "UMLS:C0158995"
        ],
        "synonyms": [
          "congenital anaemia (disease)",
          "congenital anemia",
          "congenital anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia, the cause of which is present at birth."
      },
      "child_count": 16,
      "reference_id": "MONDO:0000577"
    },
    {
      "id": 5573,
      "label": "familial hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:589",
          "GARD:0006167",
          "ICD9:282",
          "ICD9:282.9",
          "MEDGEN:1919",
          "MESH:D000745",
          "NANDO:2100183",
          "NCIT:C34379",
          "SCTID:42601008",
          "UMLS:C0002881"
        ],
        "synonyms": [
          "congenital hemolytic anemia",
          "hereditary hemolytic anemia",
          "anaemia hemolytic congenital",
          "anemia hemolytic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."
      },
      "child_count": 46,
      "reference_id": "MONDO:0003689"
    },
    {
      "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": 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": 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": 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": 11147,
      "label": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        19102
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051007",
          "GARD:0016635",
          "MEDGEN:341470",
          "MESH:C564859",
          "OMIM:266120",
          "Orphanet:35120",
          "UMLS:C1849507"
        ],
        "synonyms": [
          "P5N deficiency",
          "UMPH1 deficiency",
          "anemia, congenital, nonspherocytic hemolytic, 8",
          "anemia, hemolytic, due to UMPH1 deficiency",
          "hemolytic anemia due to P5N deficiency",
          "hemolytic anemia due to UMPH1 deficiency",
          "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to",
          "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to",
          "uridine 5'-monophosphate hydrolase deficiency",
          "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to",
          "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to",
          "hemolytic anaemia due to P5N deficiency",
          "hemolytic anaemia due to UMPH1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009946"
    },
    {
      "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": 14007,
      "label": "hemolytic anemia due to adenylate kinase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051004",
          "GARD:0016760",
          "MEDGEN:390802",
          "MESH:C567228",
          "OMIM:612631",
          "Orphanet:86817",
          "SCTID:766982000",
          "UMLS:C2675459"
        ],
        "synonyms": [
          "adenylate kinase deficiency, hemolytic anaemia due to",
          "adenylate kinase deficiency, hemolytic anemia due to"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012967"
    },
    {
      "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": 19341,
      "label": "hemolytic anemia due to glutathione reductase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7998,
        22996
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051009",
          "GARD:0016784",
          "MEDGEN:1684855",
          "OMIM:618660",
          "Orphanet:90030",
          "UMLS:C5231513"
        ],
        "synonyms": [
          "hemolytic anemia due to glutathione reductase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019531"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 3000,
      "label": "congenital anemia"
    },
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy"
    }
  ]
}