{
    "disease_id": "DOID:0111077",
    "recommended_name": {
        "id": "DOID:0111077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111077",
        "name": "congenital nonspherocytic hemolytic anemia 2",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111077",
            "name": "hemolytic anemia due to red cell pyruvate kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111077",
            "name": "PK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111077",
            "name": "pyruvate kinase deficiency of erythrocyte",
            "description": ""
        },
        {
            "id": "DOID:0111077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111077",
            "name": "pyruvate kinase deficiency of red cells",
            "description": ""
        },
        {
            "id": "DOID:0111077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111077",
            "name": "Red cell pyruvate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "pyruvate kinase deficiency of red cells",
            "description": "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."
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "PK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "Pyruvate Kinase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "hemolytic anaemia due to pyruvate Kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "hemolytic anaemia due to red cell pyruvate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "hemolytic anemia due to pyruvate Kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "hemolytic anemia due to red cell pyruvate kinase deficiency",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "pyruvate kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "pyruvate kinase deficiency of erythrocyte",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "pyruvate kinase deficiency of erythrocytes",
            "description": ""
        },
        {
            "id": "MONDO:0009950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "name": "pyruvate kinase deficiency of red cells",
            "description": ""
        },
        {
            "id": "MIM:266200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266200",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 2",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 2"
        }
    ],
    "children": [],
    "id_list": [
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    ],
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        {
            "id": "DOID:0111077",
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            "url": "https://disease-ontology.org/term/DOID:0111077",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0009950",
            "categories": []
        },
        {
            "id": "MIM:266200",
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            "url": "https://www.omim.org/entry/266200",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "P53657-1",
            "uniprot_ac": "P53657",
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            "refseq_ac": "",
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                }
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                }
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                },
                {
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                    "type": "synonym"
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                    "name": "Red cell/liver pyruvate kinase",
                    "type": "synonym"
                },
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                {
                    "name": "pyruvate kinase, liver and RBC",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate kinase, liver and blood cell",
                    "type": "synonym"
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                {
                    "name": "red cell/liver pyruvate kinase",
                    "type": "synonym"
                }
            ],
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                    "name": "CNSHA2",
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                    "name": "PKL",
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                    "name": "RPK",
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}