{
    "disease_id": "DOID:0112204",
    "recommended_name": {
        "id": "DOID:0112204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112204",
        "name": "developmental and epileptic encephalopathy 68",
        "description": "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112204",
            "name": "DEE68",
            "description": ""
        },
        {
            "id": "DOID:0112204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112204",
            "name": "early infantile epileptic encephalopathy 68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "developmental and epileptic encephalopathy, 68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "DEE68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "EIEE68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "developmental and epileptic encephalopathy 68",
            "description": ""
        },
        {
            "id": "MONDO:0032598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "name": "epileptic encephalopathy, early infantile, 68",
            "description": ""
        },
        {
            "id": "MIM:618201",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618201",
            "name": "Developmental and epileptic encephalopathy 68",
            "description": "Developmental and epileptic encephalopathy 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112204"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112204",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112204",
            "categories": []
        },
        {
            "id": "MONDO:0032598",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032598",
            "categories": []
        },
        {
            "id": "MIM:618201",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618201",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B1F5-1",
            "uniprot_ac": "A0A8M3B1F5",
            "uniprot_id": "A0A8M3B1F5_DANRE",
            "refseq_ac": "XP_009290320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trak1a",
                    "type": "recommended"
                },
                {
                    "name": "trak1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B1F5-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TXV1-1",
            "uniprot_ac": "A0AB32TXV1",
            "uniprot_id": "A0AB32TXV1_DANRE",
            "refseq_ac": "XP_068080393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hap1",
                    "type": "recommended"
                },
                {
                    "name": "hap1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TXV1-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PD31-1",
            "uniprot_ac": "Q6PD31",
            "uniprot_id": "TRAK1_MOUSE",
            "refseq_ac": "NP_780323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Protein Milton",
                    "type": "synonym"
                },
                {
                    "name": "protein Milton",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trak1",
                    "type": "recommended"
                },
                {
                    "name": "2310001H13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Trak1",
                    "type": "synonym"
                },
                {
                    "name": "hyrt",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1042",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PD31-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35668-1",
            "uniprot_ac": "O35668",
            "uniprot_id": "HAP1_MOUSE",
            "refseq_ac": "NP_034534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Huntingtin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "HAP-1",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-associated protein 1 isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hap1",
                    "type": "recommended"
                },
                {
                    "name": "HAP-1",
                    "type": "synonym"
                },
                {
                    "name": "Hap1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35668-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UPV9-1",
            "uniprot_ac": "Q9UPV9",
            "uniprot_id": "TRAK1_HUMAN",
            "refseq_ac": "NP_001036111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "106 kDa O-GlcNAc transferase-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase interacting protein 106",
                    "type": "synonym"
                },
                {
                    "name": "OGT(O-Glc-NAc transferase)-interacting protein 106 KDa",
                    "type": "synonym"
                },
                {
                    "name": "Protein Milton",
                    "type": "synonym"
                },
                {
                    "name": "milton homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein Milton",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein, kinesin binding 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAK1",
                    "type": "recommended"
                },
                {
                    "name": "DEE68",
                    "type": "synonym"
                },
                {
                    "name": "EIEE68",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1042",
                    "type": "synonym"
                },
                {
                    "name": "MILT1",
                    "type": "synonym"
                },
                {
                    "name": "OIP106",
                    "type": "synonym"
                },
                {
                    "name": "TRAK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPV9-1",
            "evidence": [
                {
                    "id": "618201",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618201"
                },
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AI05-1",
            "uniprot_ac": "A0A8I6AI05",
            "uniprot_id": "A0A8I6AI05_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trak1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AI05-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2H7-1",
            "uniprot_ac": "Q8R2H7",
            "uniprot_id": "TRAK2_RAT",
            "refseq_ac": "NP_598244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "GABA-A receptor interacting factor-1",
                    "type": "synonym"
                },
                {
                    "name": "GABA-A receptor-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "GRIF-1",
                    "type": "synonym"
                },
                {
                    "name": "O-GlcNAc transferase-interacting protein of 98 kDa",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 3",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein, kinesin binding 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trak2",
                    "type": "recommended"
                },
                {
                    "name": "Als2cr3",
                    "type": "synonym"
                },
                {
                    "name": "GRIF-1",
                    "type": "synonym"
                },
                {
                    "name": "Grif1",
                    "type": "synonym"
                },
                {
                    "name": "Oip98",
                    "type": "synonym"
                },
                {
                    "name": "Trak2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2H7-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54256-1",
            "uniprot_ac": "P54256",
            "uniprot_id": "HAP1_RAT",
            "refseq_ac": "NP_817091",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Huntingtin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "HAP-1",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-associated protein 1 isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hap1",
                    "type": "recommended"
                },
                {
                    "name": "HAP1-A",
                    "type": "synonym"
                },
                {
                    "name": "HAP1-B",
                    "type": "synonym"
                },
                {
                    "name": "Hap1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54256-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q960V3-1",
            "uniprot_ac": "Q960V3",
            "uniprot_id": "MILT_DROME",
            "refseq_ac": "NP_001245928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein milt",
                    "type": "recommended"
                },
                {
                    "name": "CG43227-PE",
                    "type": "synonym"
                },
                {
                    "name": "Protein milton",
                    "type": "synonym"
                },
                {
                    "name": "milt-PE",
                    "type": "synonym"
                },
                {
                    "name": "milton, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "milton",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "milt",
                    "type": "recommended"
                },
                {
                    "name": "2L6",
                    "type": "synonym"
                },
                {
                    "name": "CG13777",
                    "type": "synonym"
                },
                {
                    "name": "CG31630",
                    "type": "synonym"
                },
                {
                    "name": "CG43227",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43227",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43227",
                    "type": "synonym"
                },
                {
                    "name": "Milton",
                    "type": "synonym"
                },
                {
                    "name": "Milt",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.19",
                    "type": "synonym"
                },
                {
                    "name": "dmilton",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04704",
                    "type": "synonym"
                },
                {
                    "name": "milt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q960V3-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54257-1",
            "uniprot_ac": "P54257",
            "uniprot_id": "HAP1_HUMAN",
            "refseq_ac": "NP_001073339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Huntingtin-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "HAP-1",
                    "type": "synonym"
                },
                {
                    "name": "Neuroan 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-associated protein 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "neuroan 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HAP1",
                    "type": "recommended"
                },
                {
                    "name": "HAP1",
                    "type": "synonym"
                },
                {
                    "name": "HAP2",
                    "type": "synonym"
                },
                {
                    "name": "HIP5",
                    "type": "synonym"
                },
                {
                    "name": "HLP1",
                    "type": "synonym"
                },
                {
                    "name": "HLP",
                    "type": "synonym"
                },
                {
                    "name": "hHLP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54257-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60296-1",
            "uniprot_ac": "O60296",
            "uniprot_id": "TRAK2_HUMAN",
            "refseq_ac": "NP_055864",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking kinesin-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "O-linked N-acetylglucosamine transferase interacting protein 98",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid(A) receptor-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "milton homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "trafficking kinesin-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein, kinesin binding 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAK2",
                    "type": "recommended"
                },
                {
                    "name": "ALS2CR3",
                    "type": "synonym"
                },
                {
                    "name": "CALS-C",
                    "type": "synonym"
                },
                {
                    "name": "GRIF-1",
                    "type": "synonym"
                },
                {
                    "name": "GRIF1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0549",
                    "type": "synonym"
                },
                {
                    "name": "MILT2",
                    "type": "synonym"
                },
                {
                    "name": "OIP98",
                    "type": "synonym"
                },
                {
                    "name": "TRAK2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60296-1",
            "evidence": [
                {
                    "id": "0112204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112204"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112204"
}