{
    "disease_id": "DOID:0111671",
    "recommended_name": {
        "id": "DOID:0111671",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111671",
        "name": "primary hyperoxaluria type 2",
        "description": "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "D-glycerate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "HP2",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "L-glyceric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "glyoxylate reductase/hydroxypyruvate reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "name": "oxalosis II",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type 2",
            "description": "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis."
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "D-glycerate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "GRHPR primary hyperoxaluria",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "L-glyceric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria caused by mutation in GRHPR",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "primary hyperoxaluria type II",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "HP2",
            "description": ""
        },
        {
            "id": "MONDO:0009824",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "name": "hyperoxaluria, primary, type II",
            "description": ""
        },
        {
            "id": "MIM:260000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260000",
            "name": "Hyperoxaluria primary 2",
            "description": "Hyperoxaluria primary 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111671"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111671",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111671",
            "categories": []
        },
        {
            "id": "MONDO:0009824",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009824",
            "categories": []
        },
        {
            "id": "MIM:260000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QCX2-1",
            "uniprot_ac": "E9QCX2",
            "uniprot_id": "E9QCX2_DANRE",
            "refseq_ac": "XP_005168397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
                {
                    "name": "glyoxylate reductase/hydroxypyruvate reductase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grhprb",
                    "type": "recommended"
                },
                {
                    "name": "fb80f04",
                    "type": "synonym"
                },
                {
                    "name": "grhprb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb80f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77636",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QCX2-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91Z53-1",
            "uniprot_ac": "Q91Z53",
            "uniprot_id": "GRHPR_MOUSE",
            "refseq_ac": "NP_525028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.81",
                    "type": "synonym"
                },
                {
                    "name": "glyoxylate reductase/hydroxypyruvate reductase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grhpr",
                    "type": "recommended"
                },
                {
                    "name": "1110059D05Rik",
                    "type": "synonym"
                },
                {
                    "name": "6430629L09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Glxr",
                    "type": "synonym"
                },
                {
                    "name": "Grhpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91Z53-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBQ7-1",
            "uniprot_ac": "Q9UBQ7",
            "uniprot_id": "GRHPR_HUMAN",
            "refseq_ac": "NP_036335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.81",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycerate-2-dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "glyoxylate reductase and hydroxypyruvate reductase",
                    "type": "synonym"
                },
                {
                    "name": "glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRHPR",
                    "type": "recommended"
                },
                {
                    "name": "GLXR",
                    "type": "synonym"
                },
                {
                    "name": "GLYD",
                    "type": "synonym"
                },
                {
                    "name": "GRHPR",
                    "type": "synonym"
                },
                {
                    "name": "MSTP035",
                    "type": "synonym"
                },
                {
                    "name": "PH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBQ7-1",
            "evidence": [
                {
                    "id": "260000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260000"
                },
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53839-1",
            "uniprot_ac": "P53839",
            "uniprot_id": "GOR1_YEAST",
            "refseq_ac": "NP_014125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.26",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.81",
                    "type": "synonym"
                },
                {
                    "name": "glyoxylate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GOR1",
                    "type": "recommended"
                },
                {
                    "name": "GOR1",
                    "type": "synonym"
                },
                {
                    "name": "N0631",
                    "type": "synonym"
                }
            ],
            "record_id": "P53839-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8XIM5-1",
            "uniprot_ac": "A0A8J8XIM5",
            "uniprot_id": "A0A8J8XIM5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Grhpr",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8XIM5-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INU6-1",
            "uniprot_ac": "Q8INU6",
            "uniprot_id": "Q8INU6_DROME",
            "refseq_ac": "NP_001286111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
                {
                    "name": "CG31674-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG9332",
                    "type": "recommended"
                },
                {
                    "name": "CG31674",
                    "type": "synonym"
                },
                {
                    "name": "CG9332",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31674",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31674",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INU6-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VII9-1",
            "uniprot_ac": "Q9VII9",
            "uniprot_id": "Q9VII9_DROME",
            "refseq_ac": "NP_724294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
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                    "name": "CG31673-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCG31673",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD14730",
                    "type": "synonym"
                },
                {
                    "name": "CCG31673",
                    "type": "synonym"
                },
                {
                    "name": "CG31673",
                    "type": "synonym"
                },
                {
                    "name": "CG9332",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31673",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VII9-1",
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                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I725-1",
            "uniprot_ac": "Q8I725",
            "uniprot_id": "Q8I725_DROME",
            "refseq_ac": "NP_649579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glyoxylate reductase/hydroxypyruvate reductase",
                    "type": "recommended"
                },
                {
                    "name": "CG1236-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1236",
                    "type": "recommended"
                },
                {
                    "name": "CG1236",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1236",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1236",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I725-1",
            "evidence": [
                {
                    "id": "0111671",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111671"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111671"
}