{
    "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": []
}