{
    "disease_id": "DOID:0111416",
    "recommended_name": {
        "id": "DOID:0111416",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111416",
        "name": "trichohepatoenteric syndrome 2",
        "description": "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111416",
            "name": "THES2",
            "description": ""
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "trichohepatoenteric syndrome 2",
            "description": "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene."
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "SKIV2L tricho-hepato-enteric syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "Trichohepatoenteric syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "Trichohepatoenteric syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "tricho-hepato-enteric syndrome caused by mutation in SKIV2L",
            "description": ""
        },
        {
            "id": "MONDO:0013818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "name": "THES2",
            "description": ""
        },
        {
            "id": "MIM:614602",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614602",
            "name": "Trichohepatoenteric syndrome 2",
            "description": "Trichohepatoenteric syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111416"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111416",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111416",
            "categories": []
        },
        {
            "id": "MONDO:0013818",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013818",
            "categories": []
        },
        {
            "id": "MIM:614602",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614602",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HYF7-1",
            "uniprot_ac": "A0AC58HYF7",
            "uniprot_id": "A0AC58HYF7_DANRE",
            "refseq_ac": "XP_073787022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Superkiller complex protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "superkiller complex protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "skic2",
                    "type": "recommended"
                },
                {
                    "name": "fb70b07",
                    "type": "synonym"
                },
                {
                    "name": "skic2",
                    "type": "synonym"
                },
                {
                    "name": "skiv2l",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb70b07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HYF7-1",
            "evidence": [
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NZR5-1",
            "uniprot_ac": "Q6NZR5",
            "uniprot_id": "SKI2_MOUSE",
            "refseq_ac": "NP_067312",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Superkiller complex protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "SKI2 subunit of superkiller complex protein",
                    "type": "synonym"
                },
                {
                    "name": "Ski2",
                    "type": "synonym"
                },
                {
                    "name": "superkiller complex protein 2",
                    "type": "synonym"
                },
                {
                    "name": "superkiller viralicidic activity 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Skic2",
                    "type": "recommended"
                },
                {
                    "name": "4930534J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ddx13",
                    "type": "synonym"
                },
                {
                    "name": "SKI",
                    "type": "synonym"
                },
                {
                    "name": "Ski2w",
                    "type": "synonym"
                },
                {
                    "name": "Ski2",
                    "type": "synonym"
                },
                {
                    "name": "Skic2",
                    "type": "synonym"
                },
                {
                    "name": "Skiv2l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NZR5-1",
            "evidence": [
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15477-1",
            "uniprot_ac": "Q15477",
            "uniprot_id": "SKI2_HUMAN",
            "refseq_ac": "NP_008860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Superkiller complex protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "HLP",
                    "type": "synonym"
                },
                {
                    "name": "Helicase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "SKI2 homolog, superkiller viralicidic activity 2-like",
                    "type": "synonym"
                },
                {
                    "name": "SKI2 subunit of superkiller complex protein",
                    "type": "synonym"
                },
                {
                    "name": "Ski2 like RNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "Ski2",
                    "type": "synonym"
                },
                {
                    "name": "helicase SKI2W",
                    "type": "synonym"
                },
                {
                    "name": "helicase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "superkiller complex protein 2",
                    "type": "synonym"
                },
                {
                    "name": "superkiller viralicidic activity 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKIC2",
                    "type": "recommended"
                },
                {
                    "name": "170A",
                    "type": "synonym"
                },
                {
                    "name": "DDX13",
                    "type": "synonym"
                },
                {
                    "name": "HLP",
                    "type": "synonym"
                },
                {
                    "name": "SKI2W",
                    "type": "synonym"
                },
                {
                    "name": "SKI2",
                    "type": "synonym"
                },
                {
                    "name": "SKIC2",
                    "type": "synonym"
                },
                {
                    "name": "SKIV2L1",
                    "type": "synonym"
                },
                {
                    "name": "SKIV2L",
                    "type": "synonym"
                },
                {
                    "name": "SKIV2",
                    "type": "synonym"
                },
                {
                    "name": "THES2",
                    "type": "synonym"
                },
                {
                    "name": "W",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15477-1",
            "evidence": [
                {
                    "id": "614602",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614602"
                },
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35207-1",
            "uniprot_ac": "P35207",
            "uniprot_id": "SKI2_YEAST",
            "refseq_ac": "NP_013502",
            "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": "Antiviral helicase SKI2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "SKI complex RNA helicase subunit SKI2",
                    "type": "synonym"
                },
                {
                    "name": "Superkiller protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKI2",
                    "type": "recommended"
                },
                {
                    "name": "L8084.17",
                    "type": "synonym"
                },
                {
                    "name": "SKI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P35207-1",
            "evidence": [
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0KVJ4-1",
            "uniprot_ac": "A0ABK0KVJ4",
            "uniprot_id": "A0ABK0KVJ4_RAT",
            "refseq_ac": "XP_006255985",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Superkiller complex protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "superkiller complex protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Skic2",
                    "type": "recommended"
                },
                {
                    "name": "Skic2",
                    "type": "synonym"
                },
                {
                    "name": "Skiv2l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0KVJ4-1",
            "evidence": [
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCH8-1",
            "uniprot_ac": "Q9VCH8",
            "uniprot_id": "Q9VCH8_DROME",
            "refseq_ac": "NP_001262884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CG10210-PB",
                    "type": "synonym"
                },
                {
                    "name": "Twister, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Twister, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tst-PB",
                    "type": "synonym"
                },
                {
                    "name": "twister, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "twister",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tst",
                    "type": "recommended"
                },
                {
                    "name": "CG10210",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10210",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10210",
                    "type": "synonym"
                },
                {
                    "name": "SKI2",
                    "type": "synonym"
                },
                {
                    "name": "Ski2/tst",
                    "type": "synonym"
                },
                {
                    "name": "Ski2",
                    "type": "synonym"
                },
                {
                    "name": "cg10210",
                    "type": "synonym"
                },
                {
                    "name": "dSki2",
                    "type": "synonym"
                },
                {
                    "name": "tst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCH8-1",
            "evidence": [
                {
                    "id": "0111416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111416"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111416"
}