{
    "disease_id": "DOID:0111672",
    "recommended_name": {
        "id": "DOID:0111672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111672",
        "name": "primary hyperoxaluria type 3",
        "description": "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111672",
            "name": "HP3",
            "description": ""
        },
        {
            "id": "DOID:0111672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111672",
            "name": "PH III",
            "description": ""
        },
        {
            "id": "DOID:0111672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111672",
            "name": "primary hyperoxaluria type III",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "primary hyperoxaluria type 3",
            "description": "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis."
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "HOGA1 primary hyperoxaluria",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "primary hyperoxaluria caused by mutation in HOGA1",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "primary hyperoxaluria type III",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "HP3",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "PH III",
            "description": ""
        },
        {
            "id": "MONDO:0013327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "name": "hyperoxaluria, primary, type III",
            "description": ""
        },
        {
            "id": "MIM:613616",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613616",
            "name": "Hyperoxaluria primary 3",
            "description": "Hyperoxaluria primary 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111672"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111672",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111672",
            "categories": []
        },
        {
            "id": "MONDO:0013327",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013327",
            "categories": []
        },
        {
            "id": "MIM:613616",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613616",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NY77-1",
            "uniprot_ac": "Q6NY77",
            "uniprot_id": "HOGA1_DANRE",
            "refseq_ac": "NP_998035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "DHDPS-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodipicolinate synthase-like",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "Probable KHG-aldolase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodipicolinate synthase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable KHG-aldolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hoga1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77082",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NY77-1",
            "evidence": [
                {
                    "id": "0111672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCU9-1",
            "uniprot_ac": "Q9DCU9",
            "uniprot_id": "HOGA1_MOUSE",
            "refseq_ac": "NP_080428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "DHDPS-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodipicolinate synthase-like",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate pyruvate lyase 2 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "Probable KHG-aldolase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodipicolinate synthase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "probable KHG-aldolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoga1",
                    "type": "recommended"
                },
                {
                    "name": "0610010D20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dhdpsl",
                    "type": "synonym"
                },
                {
                    "name": "Hoga1",
                    "type": "synonym"
                },
                {
                    "name": "Npl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCU9-1",
            "evidence": [
                {
                    "id": "0111672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XE5-1",
            "uniprot_ac": "Q86XE5",
            "uniprot_id": "HOGA1_HUMAN",
            "refseq_ac": "NP_001128142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "DHDPS-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodipicolinate synthase-like",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate pyruvate lyase 2 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "Probable KHG-aldolase",
                    "type": "synonym"
                },
                {
                    "name": "Protein 569272",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodipicolinate synthase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodipicolinate synthetase homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable KHG-aldolase",
                    "type": "synonym"
                },
                {
                    "name": "protein 569272",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOGA1",
                    "type": "recommended"
                },
                {
                    "name": "C10orf65",
                    "type": "synonym"
                },
                {
                    "name": "DHDPS2",
                    "type": "synonym"
                },
                {
                    "name": "DHDPSL",
                    "type": "synonym"
                },
                {
                    "name": "HOGA1",
                    "type": "synonym"
                },
                {
                    "name": "HP3",
                    "type": "synonym"
                },
                {
                    "name": "NPL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XE5-1",
            "evidence": [
                {
                    "id": "613616",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613616"
                },
                {
                    "id": "0111672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111672"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2K1-1",
            "uniprot_ac": "D4A2K1",
            "uniprot_id": "D4A2K1_RAT",
            "refseq_ac": "NP_001099825",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrodipicolinate synthase-like",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylneuraminate pyruvate lyase 2 (putative)",
                    "type": "synonym"
                },
                {
                    "name": "Probable 2-keto-4-hydroxyglutarate aldolase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrodipicolinate synthase-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hoga1",
                    "type": "recommended"
                },
                {
                    "name": "Dhdpsl",
                    "type": "synonym"
                },
                {
                    "name": "Hoga1",
                    "type": "synonym"
                },
                {
                    "name": "Npl2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310475",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A2K1-1",
            "evidence": [
                {
                    "id": "0111672",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111672"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111672"
}