{
    "disease_id": "DOID:0070000",
    "recommended_name": {
        "id": "DOID:0070000",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070000",
        "name": "3-methylglutaconic aciduria type 8",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070000",
            "name": "3-methylglutaconic aciduria type VIII, MGCA8",
            "description": ""
        },
        {
            "id": "MONDO:0044723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "name": "3-methylglutaconic aciduria type 8",
            "description": ""
        },
        {
            "id": "MONDO:0044723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "name": "3-methylglutaconic aciduria, type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0044723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "name": "3-methylglutaconic aciduria, type VIII; MGCA8",
            "description": ""
        },
        {
            "id": "MONDO:0044723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "name": "MGA8",
            "description": ""
        },
        {
            "id": "MONDO:0044723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "name": "MGCA8",
            "description": ""
        },
        {
            "id": "MIM:617248",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617248",
            "name": "3-methylglutaconic aciduria 8",
            "description": "3-methylglutaconic aciduria 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070000"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070000",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070000",
            "categories": []
        },
        {
            "id": "MONDO:0044723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044723",
            "categories": []
        },
        {
            "id": "MIM:617248",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617248",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QK16-1",
            "uniprot_ac": "A0A8M9QK16",
            "uniprot_id": "A0A8M9QK16_DANRE",
            "refseq_ac": "XP_021336411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LOW QUALITY PROTEIN: serine protease HTRA2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "htra2-7",
                    "type": "recommended"
                },
                {
                    "name": "htra2-7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QK16-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PLU9-1",
            "uniprot_ac": "A0A8M9PLU9",
            "uniprot_id": "A0A8M9PLU9_DANRE",
            "refseq_ac": "XP_021328013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-10b15.8",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-10b15.8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PLU9-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NG53-1",
            "uniprot_ac": "A0A8M1NG53",
            "uniprot_id": "A0A8M1NG53_DANRE",
            "refseq_ac": "NP_001103205",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC100003308",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100003308",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "htra2-3",
                    "type": "recommended"
                },
                {
                    "name": "htra2-3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-112g5.13",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NG53-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PTZ3-1",
            "uniprot_ac": "A0A8M9PTZ3",
            "uniprot_id": "A0A8M9PTZ3_DANRE",
            "refseq_ac": "NP_001098612",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC100003428",
                    "type": "synonym"
                },
                {
                    "name": "novel serine protease protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC100003428 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "htra2-10",
                    "type": "recommended"
                },
                {
                    "name": "htra2-10",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-33c12.13",
                    "type": "synonym"
                },
                {
                    "name": "zgc:173425",
                    "type": "synonym"
                },
                {
                    "name": "zsi:dkey-33c12.13",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PTZ3-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIY5-1",
            "uniprot_ac": "Q9JIY5",
            "uniprot_id": "HTRA2_MOUSE",
            "refseq_ac": "NP_062726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.108",
                    "type": "synonym"
                },
                {
                    "name": "High temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 25",
                    "type": "synonym"
                },
                {
                    "name": "Serine proteinase OMI",
                    "type": "synonym"
                },
                {
                    "name": "high temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "motor neuron degeneration 2",
                    "type": "synonym"
                },
                {
                    "name": "omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 25",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 25",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine protease OMI",
                    "type": "synonym"
                },
                {
                    "name": "serine proteinase OMI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Htra2",
                    "type": "recommended"
                },
                {
                    "name": "Htra2",
                    "type": "synonym"
                },
                {
                    "name": "Omi",
                    "type": "synonym"
                },
                {
                    "name": "Prss25",
                    "type": "synonym"
                },
                {
                    "name": "mnd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIY5-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43464-1",
            "uniprot_ac": "O43464",
            "uniprot_id": "HTRA2_HUMAN",
            "refseq_ac": "NP_001308656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.108",
                    "type": "synonym"
                },
                {
                    "name": "High temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA-like serine protease",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 25",
                    "type": "synonym"
                },
                {
                    "name": "Serine proteinase OMI",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "high temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 25",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 25",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial isoform 3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine proteinase OMI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HTRA2",
                    "type": "recommended"
                },
                {
                    "name": "HTRA2",
                    "type": "synonym"
                },
                {
                    "name": "MGCA8",
                    "type": "synonym"
                },
                {
                    "name": "OMI",
                    "type": "synonym"
                },
                {
                    "name": "PARK13",
                    "type": "synonym"
                },
                {
                    "name": "PRSS25",
                    "type": "synonym"
                }
            ],
            "record_id": "O43464-1",
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                {
                    "id": "617248",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617248"
                },
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53920-1",
            "uniprot_ac": "P53920",
            "uniprot_id": "NM111_YEAST",
            "refseq_ac": "NP_014276",
            "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": "Pro-apoptotic serine protease NMA111",
                    "type": "recommended"
                },
                {
                    "name": "111 kDa nuclear mediator of apoptosis",
                    "type": "synonym"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Nma111p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMA111",
                    "type": "recommended"
                },
                {
                    "name": "N1897",
                    "type": "synonym"
                },
                {
                    "name": "NMA111",
                    "type": "synonym"
                },
                {
                    "name": "YNM3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53920-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0BNB9-1",
            "uniprot_ac": "B0BNB9",
            "uniprot_id": "B0BNB9_RAT",
            "refseq_ac": "NP_001100069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.108",
                    "type": "synonym"
                },
                {
                    "name": "High temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "Omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "Serine protease 25",
                    "type": "synonym"
                },
                {
                    "name": "Serine proteinase OMI",
                    "type": "synonym"
                },
                {
                    "name": "high temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine, 25",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Htra2",
                    "type": "recommended"
                },
                {
                    "name": "Htra2",
                    "type": "synonym"
                },
                {
                    "name": "Prss25",
                    "type": "synonym"
                }
            ],
            "record_id": "B0BNB9-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFJ3-1",
            "uniprot_ac": "Q9VFJ3",
            "uniprot_id": "HTRA2_DROME",
            "refseq_ac": "NP_001262565",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease HTRA2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.108",
                    "type": "synonym"
                },
                {
                    "name": "CG8464-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmHtrA2",
                    "type": "synonym"
                },
                {
                    "name": "HTRA2-related serine protease, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "High temperature requirement protein A2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2-PB",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi stress-regulated endoprotease",
                    "type": "synonym"
                },
                {
                    "name": "dOmi",
                    "type": "synonym"
                },
                {
                    "name": "high temperature requirement A2",
                    "type": "synonym"
                },
                {
                    "name": "serine protease HTRA2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HtrA2",
                    "type": "recommended"
                },
                {
                    "name": "CG8464",
                    "type": "synonym"
                },
                {
                    "name": "DmHtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8464",
                    "type": "synonym"
                },
                {
                    "name": "HTRA2",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2/Omi",
                    "type": "synonym"
                },
                {
                    "name": "HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi/HtrA2",
                    "type": "synonym"
                },
                {
                    "name": "Omi",
                    "type": "synonym"
                },
                {
                    "name": "dOmi",
                    "type": "synonym"
                },
                {
                    "name": "domi",
                    "type": "synonym"
                },
                {
                    "name": "htrA2/omi",
                    "type": "synonym"
                },
                {
                    "name": "htrA2",
                    "type": "synonym"
                },
                {
                    "name": "omi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFJ3-1",
            "evidence": [
                {
                    "id": "0070000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070000"
}