{
    "disease_id": "DOID:0111464",
    "recommended_name": {
        "id": "DOID:0111464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111464",
        "name": "combined oxidative phosphorylation deficiency 35",
        "description": "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111464",
            "name": "COXPD35",
            "description": ""
        },
        {
            "id": "MONDO:0054742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054742",
            "name": "combined oxidative phosphorylation deficiency 35",
            "description": ""
        },
        {
            "id": "MONDO:0054742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054742",
            "name": "combined oxidative phosphorylation deficiency 35",
            "description": ""
        },
        {
            "id": "MONDO:0054742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054742",
            "name": "COXPD35",
            "description": ""
        },
        {
            "id": "MIM:617873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617873",
            "name": "Combined oxidative phosphorylation deficiency 35",
            "description": "Combined oxidative phosphorylation deficiency 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111464",
            "categories": []
        },
        {
            "id": "MONDO:0054742",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054742",
            "categories": []
        },
        {
            "id": "MIM:617873",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617873",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LWL7-1",
            "uniprot_ac": "Q1LWL7",
            "uniprot_id": "Q1LWL7_DANRE",
            "refseq_ac": "NP_001038239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA dimethylallyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.75",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trit1",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-194e15.1",
                    "type": "synonym"
                },
                {
                    "name": "trit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWL7-1",
            "evidence": [
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80UN9-1",
            "uniprot_ac": "Q80UN9",
            "uniprot_id": "MOD5_MOUSE",
            "refseq_ac": "NP_080149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA dimethylallyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.75",
                    "type": "synonym"
                },
                {
                    "name": "IPP transferase",
                    "type": "synonym"
                },
                {
                    "name": "IPPT",
                    "type": "synonym"
                },
                {
                    "name": "IPTase",
                    "type": "synonym"
                },
                {
                    "name": "Isopentenyl-diphosphate:tRNA isopentenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "isopentenyl-diphosphate:tRNA isopentenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA isopentenyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA isopentenyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trit1",
                    "type": "recommended"
                },
                {
                    "name": "2310075G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "IPPT",
                    "type": "synonym"
                },
                {
                    "name": "IPT",
                    "type": "synonym"
                },
                {
                    "name": "Ipt",
                    "type": "synonym"
                },
                {
                    "name": "MOD5",
                    "type": "synonym"
                },
                {
                    "name": "Trit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80UN9-1",
            "evidence": [
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H3H1-1",
            "uniprot_ac": "Q9H3H1",
            "uniprot_id": "MOD5_HUMAN",
            "refseq_ac": "NP_001299620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA dimethylallyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.75",
                    "type": "synonym"
                },
                {
                    "name": "IPP transferase",
                    "type": "synonym"
                },
                {
                    "name": "IPPT",
                    "type": "synonym"
                },
                {
                    "name": "IPTase",
                    "type": "synonym"
                },
                {
                    "name": "Isopentenyl-diphosphate:tRNA isopentenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "hGRO1",
                    "type": "synonym"
                },
                {
                    "name": "isopentenyl-diphosphate:tRNA isopentenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "tRNA isopentenylpyrophosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA isopentenyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIT1",
                    "type": "recommended"
                },
                {
                    "name": "COXPD35",
                    "type": "synonym"
                },
                {
                    "name": "GRO1",
                    "type": "synonym"
                },
                {
                    "name": "IPPT",
                    "type": "synonym"
                },
                {
                    "name": "IPTase",
                    "type": "synonym"
                },
                {
                    "name": "IPT",
                    "type": "synonym"
                },
                {
                    "name": "MOD5",
                    "type": "synonym"
                },
                {
                    "name": "TRIT1",
                    "type": "synonym"
                },
                {
                    "name": "hGRO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3H1-1",
            "evidence": [
                {
                    "id": "617873",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617873"
                },
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07884-1",
            "uniprot_ac": "P07884",
            "uniprot_id": "MOD5_YEAST",
            "refseq_ac": "NP_014917",
            "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": "tRNA dimethylallyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.75",
                    "type": "synonym"
                },
                {
                    "name": "DMATase",
                    "type": "synonym"
                },
                {
                    "name": "IPP transferase",
                    "type": "synonym"
                },
                {
                    "name": "IPPT",
                    "type": "synonym"
                },
                {
                    "name": "IPTase",
                    "type": "synonym"
                },
                {
                    "name": "Isopentenyl-diphosphate: tRNA isopentenyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA dimethylallyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA isopentenyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MOD5",
                    "type": "recommended"
                },
                {
                    "name": "MOD5",
                    "type": "synonym"
                }
            ],
            "record_id": "P07884-1",
            "evidence": [
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A175-1",
            "uniprot_ac": "D4A175",
            "uniprot_id": "D4A175_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": "tRNA dimethylallyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trit1",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A175-1",
            "evidence": [
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMV0-1",
            "uniprot_ac": "Q8IMV0",
            "uniprot_id": "Q8IMV0_DROME",
            "refseq_ac": "NP_001189283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2H2-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31381-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEST:LD10347",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD10347",
                    "type": "synonym"
                },
                {
                    "name": "CG31381",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31381",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31381",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMV0-1",
            "evidence": [
                {
                    "id": "0111464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111464"
}