{
    "disease_id": "DOID:0111619",
    "recommended_name": {
        "id": "DOID:0111619",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111619",
        "name": "combined D-2- and L-2-hydroxyglutaric aciduria",
        "description": "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-HGA",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "DOID:0111619",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": "D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites."
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-HGA",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D,L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "D2L2AD",
            "description": ""
        },
        {
            "id": "MONDO:0014072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "name": "combined D-2- and L-2-hydroxyglutaric aciduria",
            "description": ""
        },
        {
            "id": "MIM:615182",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615182",
            "name": "Combined D-2- and L-2-hydroxyglutaric aciduria",
            "description": "Combined D-2- and L-2-hydroxyglutaric aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111619"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111619",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111619",
            "categories": []
        },
        {
            "id": "MONDO:0014072",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014072",
            "categories": []
        },
        {
            "id": "MIM:615182",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615182",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R4U0-1",
            "uniprot_ac": "F1R4U0",
            "uniprot_id": "TXTPB_DANRE",
            "refseq_ac": "NP_001313457",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Citrate transport protein B",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1b",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein B",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1b",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "slc25a1 solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 1b",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a1b",
                    "type": "recommended"
                },
                {
                    "name": "slc25a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R4U0-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PGY3-1",
            "uniprot_ac": "Q6PGY3",
            "uniprot_id": "TXTPA_DANRE",
            "refseq_ac": "NP_956901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Citrate transport protein A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1a",
                    "type": "synonym"
                },
                {
                    "name": "cic",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein A",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1a",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25, member 1",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein A, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a1a",
                    "type": "recommended"
                },
                {
                    "name": "slc25a1a",
                    "type": "synonym"
                },
                {
                    "name": "slc25a1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63578",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGY3-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JZU2-1",
            "uniprot_ac": "Q8JZU2",
            "uniprot_id": "TXTP_MOUSE",
            "refseq_ac": "NP_694790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "DiGeorge syndrome gene j",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a1",
                    "type": "recommended"
                },
                {
                    "name": "1300019P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610100G11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ctp",
                    "type": "synonym"
                },
                {
                    "name": "Dgsj",
                    "type": "synonym"
                },
                {
                    "name": "Slc20a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JZU2-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53007-1",
            "uniprot_ac": "P53007",
            "uniprot_id": "TXTP_HUMAN",
            "refseq_ac": "NP_005975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate isocitrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 20 (mitochondrial citrate transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A1",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CMS23",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "D2L2AD",
                    "type": "synonym"
                },
                {
                    "name": "SEA",
                    "type": "synonym"
                },
                {
                    "name": "SLC20A3",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53007-1",
            "evidence": [
                {
                    "id": "615182",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615182"
                },
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43617-1",
            "uniprot_ac": "P43617",
            "uniprot_id": "YFL5_YEAST",
            "refseq_ac": "",
            "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": "Uncharacterized mitochondrial carrier YFR045W",
                    "type": "recommended"
                }
            ],
            "gene_names": [],
            "record_id": "P43617-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38152-1",
            "uniprot_ac": "P38152",
            "uniprot_id": "TXTP_YEAST",
            "refseq_ac": "NP_009850",
            "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": "Tricarboxylate transport protein",
                    "type": "recommended"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Ctp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTP1",
                    "type": "recommended"
                },
                {
                    "name": "CTP1",
                    "type": "synonym"
                },
                {
                    "name": "YBR2039",
                    "type": "synonym"
                }
            ],
            "record_id": "P38152-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32089-1",
            "uniprot_ac": "P32089",
            "uniprot_id": "TXTP_RAT",
            "refseq_ac": "NP_059003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tricarboxylate transport protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CTP",
                    "type": "synonym"
                },
                {
                    "name": "Citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "Citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Tricarboxylate carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate carrier",
                    "type": "synonym"
                },
                {
                    "name": "citrate transport protein",
                    "type": "synonym"
                },
                {
                    "name": "citrate transporter) member 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial tricarboxylate carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "tricarboxylate transport protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a1",
                    "type": "recommended"
                },
                {
                    "name": "Cic",
                    "type": "synonym"
                },
                {
                    "name": "Ctp",
                    "type": "synonym"
                },
                {
                    "name": "Slc20a3",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32089-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KSQ0-1",
            "uniprot_ac": "Q7KSQ0",
            "uniprot_id": "Q7KSQ0_DROME",
            "refseq_ac": "NP_001027175",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Citrate transport protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6782-PE",
                    "type": "synonym"
                },
                {
                    "name": "scheggia, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "scheggia",
                    "type": "synonym"
                },
                {
                    "name": "sea-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sea",
                    "type": "recommended"
                },
                {
                    "name": "CG31305",
                    "type": "synonym"
                },
                {
                    "name": "CG6782",
                    "type": "synonym"
                },
                {
                    "name": "DmCIC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6782",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6782",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A1",
                    "type": "synonym"
                },
                {
                    "name": "Sea",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.12",
                    "type": "synonym"
                },
                {
                    "name": "l(3)EP3364",
                    "type": "synonym"
                },
                {
                    "name": "sea[Delta24]",
                    "type": "synonym"
                },
                {
                    "name": "sea",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KSQ0-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14192-1",
            "uniprot_ac": "Q14192",
            "uniprot_id": "FHL2_HUMAN",
            "refseq_ac": "NP_001034581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 2",
                    "type": "recommended"
                },
                {
                    "name": "FHL-2",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein DRAL",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-3",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle LIM-protein 3",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 11",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated in rhabdomyosarcoma LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FHL2",
                    "type": "recommended"
                },
                {
                    "name": "AAG11",
                    "type": "synonym"
                },
                {
                    "name": "DRAL",
                    "type": "synonym"
                },
                {
                    "name": "FHL-2",
                    "type": "synonym"
                },
                {
                    "name": "FHL2",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-3",
                    "type": "synonym"
                },
                {
                    "name": "SLIM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14192-1",
            "evidence": [
                {
                    "id": "0111619",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111619"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111619"
}