{
    "disease_id": "DOID:0070342",
    "recommended_name": {
        "id": "DOID:0070342",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070342",
        "name": "adult-onset type II citrullinemia",
        "description": "A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070342",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070342",
            "name": "citrin deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070342",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070342",
            "name": "CTLN2",
            "description": ""
        },
        {
            "id": "DOID:0070342",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070342",
            "name": "adolescent- or adult-onset citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrullinemia, type II, adult-onset",
            "description": "Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern."
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrullinemia, adult-onset type II",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrullinemia, type II, adult-onset",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "CTLN2",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "adult-onset citrullinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "adult-onset citrullinemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrullinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "name": "citrullinemia type II",
            "description": ""
        },
        {
            "id": "MIM:603471",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603471",
            "name": "Citrin deficiency, adolescent or adult onset",
            "description": "Citrin deficiency, adolescent or adult onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070342"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070342",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070342",
            "categories": []
        },
        {
            "id": "MONDO:0011326",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011326",
            "categories": []
        },
        {
            "id": "MIM:603471",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603471",
            "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"
                },
                {
                    "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"
                }
            ],
            "record_id": "Q9QXX4-1",
            "evidence": [
                {
                    "id": "0070342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070342"
                }
            ]
        },
        {
            "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": "603471",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603471"
                },
                {
                    "id": "0070342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070342"
                }
            ]
        },
        {
            "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"
                }
            ],
            "gene_names": [
                {
                    "name": "AGC1",
                    "type": "recommended"
                },
                {
                    "name": "AGC1",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.01C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12482-1",
            "evidence": [
                {
                    "id": "0070342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LZW6-1",
            "uniprot_ac": "F1LZW6",
            "uniprot_id": "S2513_RAT",
            "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",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565889",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a13",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LZW6-1",
            "evidence": [
                {
                    "id": "0070342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070342"
                }
            ]
        },
        {
            "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Aralar",
                    "type": "recommended"
                },
                {
                    "name": "AGC",
                    "type": "synonym"
                },
                {
                    "name": "Aralar1",
                    "type": "synonym"
                },
                {
                    "name": "Aralar",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH07418",
                    "type": "synonym"
                },
                {
                    "name": "CABP1",
                    "type": "synonym"
                },
                {
                    "name": "CG2139",
                    "type": "synonym"
                },
                {
                    "name": "DmAralar",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2139",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2139",
                    "type": "synonym"
                },
                {
                    "name": "aralar1",
                    "type": "synonym"
                },
                {
                    "name": "aralar",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA73-1",
            "evidence": [
                {
                    "id": "0070342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070342"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070342"
}