{
    "disease_id": "DOID:0110001",
    "recommended_name": {
        "id": "DOID:0110001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110001",
        "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110001",
            "name": "3-methylglutaconic aciduria type 6",
            "description": ""
        },
        {
            "id": "DOID:0110001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110001",
            "name": "MEGDEL",
            "description": ""
        },
        {
            "id": "DOID:0110001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110001",
            "name": "MEGDEL syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110001",
            "name": "MGCA6",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
            "description": "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene."
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-methylglutaconic aciduria caused by mutation in SERAC1",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "MEGDEL",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "MEGDEL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "MGCA6",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "SERAC1 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-MGCA type IV (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-MGCA-4 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "3-methylglutaconic aciduria type VI",
            "description": ""
        },
        {
            "id": "MONDO:0013875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "name": "SERAC1 defect",
            "description": ""
        },
        {
            "id": "MIM:614739",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614739",
            "name": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
            "description": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110001"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110001",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110001",
            "categories": []
        },
        {
            "id": "MONDO:0013875",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013875",
            "categories": []
        },
        {
            "id": "MIM:614739",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614739",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SNQ7-1",
            "uniprot_ac": "Q5SNQ7",
            "uniprot_id": "SRAC1_DANRE",
            "refseq_ac": "XP_005160640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "Serine active site-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SERAC1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "serac1",
                    "type": "recommended"
                },
                {
                    "name": "serac1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SNQ7-1",
            "evidence": [
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U213-1",
            "uniprot_ac": "Q3U213",
            "uniprot_id": "SRAC1_MOUSE",
            "refseq_ac": "NP_001104487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "Serine active site-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SERAC1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein SERAC1",
                    "type": "synonym"
                },
                {
                    "name": "serine active site-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serac1",
                    "type": "recommended"
                },
                {
                    "name": "4930511N22Rik",
                    "type": "synonym"
                },
                {
                    "name": "D17Ertd141e",
                    "type": "synonym"
                },
                {
                    "name": "Serac1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U213-1",
            "evidence": [
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96JX3-1",
            "uniprot_ac": "Q96JX3",
            "uniprot_id": "SRAC1_HUMAN",
            "refseq_ac": "NP_116250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "Serine active site-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SERAC1",
                    "type": "synonym"
                },
                {
                    "name": "serine active site-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "SERAC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JX3-1",
            "evidence": [
                {
                    "id": "614739",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614739"
                },
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B543-1",
            "uniprot_ac": "A0A8I6B543",
            "uniprot_id": "A0A8I6B543_RAT",
            "refseq_ac": "NP_001387864",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "Serine active site-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SERAC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Serac1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565064",
                    "type": "synonym"
                },
                {
                    "name": "Serac1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6B543-1",
            "evidence": [
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ64-1",
            "uniprot_ac": "Q9VJ64",
            "uniprot_id": "Q9VJ64_DROME",
            "refseq_ac": "NP_001286055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SERAC1 N-terminal domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10383-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10383",
                    "type": "recommended"
                },
                {
                    "name": "CG10383",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10383",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10383",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ64-1",
            "evidence": [
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBE6-1",
            "uniprot_ac": "Q9VBE6",
            "uniprot_id": "Q9VBE6_DROME",
            "refseq_ac": "NP_651481",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SERAC1",
                    "type": "recommended"
                },
                {
                    "name": "CG5455-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CT17296",
                    "type": "recommended"
                },
                {
                    "name": "CG5455",
                    "type": "synonym"
                },
                {
                    "name": "CT17296",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5455",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5455",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBE6-1",
            "evidence": [
                {
                    "id": "0110001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110001"
}