{
    "disease_id": "DOID:0080363",
    "recommended_name": {
        "id": "DOID:0080363",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080363",
        "name": "mitochondrial pyruvate carrier deficiency",
        "description": "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "mitochondrial pyruvate carrier deficiency",
            "description": "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation."
        },
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "mitochondrial pyruvate carrier deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "MPYCD",
            "description": ""
        },
        {
            "id": "MIM:614741",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614741",
            "name": "Mitochondrial pyruvate carrier deficiency",
            "description": "Mitochondrial pyruvate carrier deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080363"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080363",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080363",
            "categories": []
        },
        {
            "id": "MONDO:0013877",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "categories": []
        },
        {
            "id": "MIM:614741",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614741",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T6M0-1",
            "uniprot_ac": "A0AB32T6M0",
            "uniprot_id": "A0AB32T6M0_DANRE",
            "refseq_ac": "XP_068068935",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial pyruvate carrier 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mpc1",
                    "type": "recommended"
                },
                {
                    "name": "mpc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92707",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T6M0-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63030-1",
            "uniprot_ac": "P63030",
            "uniprot_id": "MPC1_MOUSE",
            "refseq_ac": "NP_061289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-regulating basic protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpc1",
                    "type": "recommended"
                },
                {
                    "name": "0610006G08Rik",
                    "type": "synonym"
                },
                {
                    "name": "3830411I18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Brp44l",
                    "type": "synonym"
                },
                {
                    "name": "Mpc1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63030-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5U8-1",
            "uniprot_ac": "Q9Y5U8",
            "uniprot_id": "MPC1_HUMAN",
            "refseq_ac": "NP_057182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "HSPC040 protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPC1",
                    "type": "recommended"
                },
                {
                    "name": "BRP44L",
                    "type": "synonym"
                },
                {
                    "name": "CGI-129",
                    "type": "synonym"
                },
                {
                    "name": "HSPC040",
                    "type": "synonym"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                },
                {
                    "name": "MPYCD",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-115",
                    "type": "synonym"
                },
                {
                    "name": "SLC54A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5U8-1",
            "evidence": [
                {
                    "id": "614741",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614741"
                },
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53157-1",
            "uniprot_ac": "P53157",
            "uniprot_id": "MPC1_YEAST",
            "refseq_ac": "NP_011435",
            "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": "Mitochondrial pyruvate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FMP37",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate transporter MPC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPC1",
                    "type": "recommended"
                },
                {
                    "name": "FMP37",
                    "type": "synonym"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53157-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63031-1",
            "uniprot_ac": "P63031",
            "uniprot_id": "MPC1_RAT",
            "refseq_ac": "NP_598245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "Apoptosis-regulating basic protein",
                    "type": "synonym"
                },
                {
                    "name": "Brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-regulating basic protein",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 44-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 54 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpc1",
                    "type": "recommended"
                },
                {
                    "name": "Arbp",
                    "type": "synonym"
                },
                {
                    "name": "Brp44l",
                    "type": "synonym"
                },
                {
                    "name": "Mpc1",
                    "type": "synonym"
                },
                {
                    "name": "SLC54A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63031-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A677-1",
            "uniprot_ac": "A0A8I6A677",
            "uniprot_id": "A0A8I6A677_RAT",
            "refseq_ac": "NP_001102835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier",
                    "type": "recommended"
                },
                {
                    "name": "brain protein 44-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 54 member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpc1l",
                    "type": "recommended"
                },
                {
                    "name": "AABR07037058.1",
                    "type": "synonym"
                },
                {
                    "name": "Mpc1l",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563528",
                    "type": "synonym"
                },
                {
                    "name": "SLC54A3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A677-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KSC4-1",
            "uniprot_ac": "Q7KSC4",
            "uniprot_id": "MPC1_DROME",
            "refseq_ac": "NP_001262720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial pyruvate carrier 1",
                    "type": "recommended"
                },
                {
                    "name": "CG14290-PC",
                    "type": "synonym"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                },
                {
                    "name": "Mpc1-PC",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial pyruvate carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpc1",
                    "type": "recommended"
                },
                {
                    "name": "CG14290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14290",
                    "type": "synonym"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                },
                {
                    "name": "MPC",
                    "type": "synonym"
                },
                {
                    "name": "Mpc1",
                    "type": "synonym"
                },
                {
                    "name": "dMPC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KSC4-1",
            "evidence": [
                {
                    "id": "0080363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080363"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080363"
}