{
    "disease_id": "DOID:0070341",
    "recommended_name": {
        "id": "DOID:0070341",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070341",
        "name": "neonatal-onset type II citrullinemia",
        "description": "A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070341",
            "name": "neonatal-onset type 2 citrullinemia",
            "description": ""
        },
        {
            "id": "DOID:0070341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070341",
            "name": "neonatal or infantile-onset citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal intrahepatic cholestasis due to citrin deficiency",
            "description": "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia."
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "NICCD",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal intrahepatic cholestasis caused by citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal intrahepatic cholestasis due to citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal-onset citrullinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "name": "neonatal-onset citrullinemia type II",
            "description": ""
        },
        {
            "id": "MIM:605814",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605814",
            "name": "Citrin deficiency, neonatal or infantile onset",
            "description": "Citrin deficiency, neonatal or infantile onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070341"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070341",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070341",
            "categories": []
        },
        {
            "id": "MONDO:0011601",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011601",
            "categories": []
        },
        {
            "id": "MIM:605814",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605814",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXX4-1",
            "uniprot_ac": "Q9QXX4",
            "uniprot_id": "S2513_MOUSE",
            "refseq_ac": "NP_001171043",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Citrin",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 13",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar2",
                    "type": "synonym"
                },
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                    "name": "citrin",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25, member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a13",
                    "type": "recommended"
                },
                {
                    "name": "Agc2",
                    "type": "synonym"
                },
                {
                    "name": "Ctrn",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a13",
                    "type": "synonym"
                }
            ],
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                    "id": "0070341",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
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            "uniprot_ac": "Q8BH59",
            "uniprot_id": "S2512_MOUSE",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
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                    "name": "Solute carrier family 25 member 12",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a12",
                    "type": "recommended"
                },
                {
                    "name": "2610002D09Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230107K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a12",
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                }
            ],
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                {
                    "id": "0070341",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJS0-1",
            "uniprot_ac": "Q9UJS0",
            "uniprot_id": "S2513_HUMAN",
            "refseq_ac": "NP_001153682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ARALAR-related gene 2",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR2",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding mitochondrial carrier protein Aralar2",
                    "type": "synonym"
                },
                {
                    "name": "Citrin",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial aspartate glutamate carrier 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 13",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar2",
                    "type": "synonym"
                },
                {
                    "name": "citrullinemia type II",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (aspartate/glutamate carrier), member 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A13",
                    "type": "recommended"
                },
                {
                    "name": "AGC2",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR2",
                    "type": "synonym"
                },
                {
                    "name": "CITRIN",
                    "type": "synonym"
                },
                {
                    "name": "CTLN2",
                    "type": "synonym"
                },
                {
                    "name": "NICCD",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJS0-1",
            "evidence": [
                {
                    "id": "605814",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605814"
                },
                {
                    "id": "0070341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12482-1",
            "uniprot_ac": "Q12482",
            "uniprot_id": "AGC1_YEAST",
            "refseq_ac": "NP_015346",
            "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 aspartate-glutamate transporter AGC1",
                    "type": "recommended"
                },
                {
                    "name": "Aspartate-glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "citrin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "AGC1",
                    "type": "recommended"
                },
                {
                    "name": "AGC1",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.01C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12482-1",
            "evidence": [
                {
                    "id": "0070341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LZW6-1",
            "uniprot_ac": "F1LZW6",
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            "refseq_ac": "NP_001406553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 13",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar2",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (aspartate/glutamate carrier), member 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25, member 13 (citrin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a13",
                    "type": "recommended"
                },
                {
                    "name": "Agc2",
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                },
                {
                    "name": "RGD1565889",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a13",
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                }
            ],
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                {
                    "id": "0070341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LX07-1",
            "uniprot_ac": "F1LX07",
            "uniprot_id": "S2512_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
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                }
            ],
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                {
                    "name": "Slc25a12",
                    "type": "recommended"
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                {
                    "id": "0070341",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA73-1",
            "uniprot_ac": "Q9VA73",
            "uniprot_id": "CMC_DROME",
            "refseq_ac": "NP_001247368",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter Aralar, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "CG2139-PE",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial aspartate/glutamate carrier protein Aralar",
                    "type": "synonym"
                },
                {
                    "name": "aralar1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "aralar1-PE",
                    "type": "synonym"
                }
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                {
                    "name": "Aralar",
                    "type": "recommended"
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                {
                    "name": "AGC",
                    "type": "synonym"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "Aralar",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH07418",
                    "type": "synonym"
                },
                {
                    "name": "CABP1",
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                },
                {
                    "name": "CG2139",
                    "type": "synonym"
                },
                {
                    "name": "DmAralar",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2139",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2139",
                    "type": "synonym"
                },
                {
                    "name": "aralar1",
                    "type": "synonym"
                },
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                    "name": "aralar",
                    "type": "synonym"
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                {
                    "id": "0070341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        },
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            "uniprot_canonical_ac": "O75746-1",
            "uniprot_ac": "O75746",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Araceli hiperlarga",
                    "type": "synonym"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "Aralar",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 12",
                    "type": "synonym"
                },
                {
                    "name": "araceli hiperlarga",
                    "type": "synonym"
                },
                {
                    "name": "aspartate/glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding mitochondrial carrier superfamily member Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding mitochondrial carrier protein Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aspartate glutamate carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (aspartate/glutamate carrier), member 12",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier, Aralar), member 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A12",
                    "type": "recommended"
                },
                {
                    "name": "AGC1",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR1",
                    "type": "synonym"
                },
                {
                    "name": "ARALAR",
                    "type": "synonym"
                },
                {
                    "name": "DEE39",
                    "type": "synonym"
                },
                {
                    "name": "EIEE39",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A12",
                    "type": "synonym"
                }
            ],
            "record_id": "O75746-1",
            "evidence": [
                {
                    "id": "0070341",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070341"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070341"
}