{
    "disease_id": "DOID:0050720",
    "recommended_name": {
        "id": "DOID:0050720",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050720",
        "name": "ornithine translocase deficiency",
        "description": "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood."
    },
    "synonyms": [
        {
            "id": "DOID:0050720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050720",
            "name": "Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050720",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050720",
            "name": "HHH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "ornithine translocase deficiency",
            "description": "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction."
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "HHH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "ORNT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "ornithine carrier deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "ornithine translocase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "triple H syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "HHH",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "HHHS",
            "description": ""
        },
        {
            "id": "MONDO:0009393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "name": "ornithine translocase deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:238970",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/238970",
            "name": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome",
            "description": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050720"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050720",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050720",
            "categories": []
        },
        {
            "id": "MONDO:0009393",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009393",
            "categories": []
        },
        {
            "id": "MIM:238970",
            "database": "MIM",
            "url": "https://www.omim.org/entry/238970",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T3T0-1",
            "uniprot_ac": "A0AB32T3T0",
            "uniprot_id": "A0AB32T3T0_DANRE",
            "refseq_ac": "XP_068069702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 15a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 15a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a15a",
                    "type": "recommended"
                },
                {
                    "name": "slc25a15a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158707",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T3T0-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2BEN9-1",
            "uniprot_ac": "A2BEN9",
            "uniprot_id": "A2BEN9_DANRE",
            "refseq_ac": "NP_001121816",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ORNT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 25 member 15b",
                    "type": "synonym"
                },
                {
                    "name": "ornithine transporter) member 15b",
                    "type": "synonym"
                },
                {
                    "name": "slc25a15",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 15b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a15b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-137i24.11",
                    "type": "synonym"
                },
                {
                    "name": "slc25a15b",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BEN9-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVD5-1",
            "uniprot_ac": "Q9WVD5",
            "uniprot_id": "ORNT1_MOUSE",
            "refseq_ac": "NP_851842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ornithine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 15",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ornithine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ornithine transporter, mitochondrial 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a15",
                    "type": "recommended"
                },
                {
                    "name": "D630044L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ornt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVD5-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y619-1",
            "uniprot_ac": "Q9Y619",
            "uniprot_id": "ORNT1_HUMAN",
            "refseq_ac": "NP_055067",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ornithine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 15",
                    "type": "synonym"
                },
                {
                    "name": "hyperammonemia-hyperornithinemia-homocitrullinuria syndrome",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ornithine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ornithine carrier 1",
                    "type": "synonym"
                },
                {
                    "name": "ornithine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ornithine transporter) member 15",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A15",
                    "type": "recommended"
                },
                {
                    "name": "D13S327",
                    "type": "synonym"
                },
                {
                    "name": "HHH",
                    "type": "synonym"
                },
                {
                    "name": "LNC-HC",
                    "type": "synonym"
                },
                {
                    "name": "ORC1",
                    "type": "synonym"
                },
                {
                    "name": "ORNT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A15",
                    "type": "synonym"
                },
                {
                    "name": "SP1855",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y619-1",
            "evidence": [
                {
                    "id": "238970",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/238970"
                },
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12375-1",
            "uniprot_ac": "Q12375",
            "uniprot_id": "ORT1_YEAST",
            "refseq_ac": "NP_014773",
            "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 ornithine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Ort1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ORT1",
                    "type": "recommended"
                },
                {
                    "name": "ARG11",
                    "type": "synonym"
                },
                {
                    "name": "O3299",
                    "type": "synonym"
                },
                {
                    "name": "ORT1",
                    "type": "synonym"
                },
                {
                    "name": "YOR3299C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12375-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K309-1",
            "uniprot_ac": "A0A0G2K309",
            "uniprot_id": "ORNT1_RAT",
            "refseq_ac": "XP_006253412",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ornithine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 15",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ornithine transporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a15",
                    "type": "recommended"
                },
                {
                    "name": "Ab1-114",
                    "type": "synonym"
                },
                {
                    "name": "Ornt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a15",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K309-1",
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                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G8E8-1",
            "uniprot_ac": "A0A8I6G8E8",
            "uniprot_id": "A0A8I6G8E8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G8E8-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVQ8-1",
            "uniprot_ac": "Q7KVQ8",
            "uniprot_id": "Q7KVQ8_DROME",
            "refseq_ac": "NP_572639",
            "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 ornithine transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "CG1628-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1628",
                    "type": "recommended"
                },
                {
                    "name": "CG1628",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1628",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1628",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVQ8-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXI2-1",
            "uniprot_ac": "Q9BXI2",
            "uniprot_id": "ORNT2_HUMAN",
            "refseq_ac": "NP_114153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ornithine transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 25 member 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ornithine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "ornithine transporter) member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (mitochondrial carrier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A2",
                    "type": "recommended"
                },
                {
                    "name": "ORC2",
                    "type": "synonym"
                },
                {
                    "name": "ORNT2",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXI2-1",
            "evidence": [
                {
                    "id": "0050720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050720"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050720"
}