{
    "disease_id": "DOID:0111414",
    "recommended_name": {
        "id": "DOID:0111414",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111414",
        "name": "trichohepatoenteric syndrome",
        "description": "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex."
    },
    "synonyms": [
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "SD/THE",
            "description": ""
        },
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "Syndromic diarrhea/Tricho-hepato-enteric syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "THES",
            "description": ""
        },
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "Tricho-hepato-enteric syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "phenotypic diarrhea",
            "description": ""
        },
        {
            "id": "DOID:0111414",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "name": "syndromic diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "trichohepatoenteric syndrome 1",
            "description": "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene."
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "TRICHOHEPATOENTERIC syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "TTC37 tricho-hepato-enteric syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "tricho-hepato-enteric syndrome caused by mutation in TTC37",
            "description": ""
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "trichohepatoenteric syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0024541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "name": "THES1",
            "description": ""
        },
        {
            "id": "MIM:222470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222470",
            "name": "Trichohepatoenteric syndrome 1",
            "description": "Trichohepatoenteric syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111415",
            "label": "trichohepatoenteric syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111416",
            "label": "trichohepatoenteric syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111414",
        "DOID:0111416",
        "DOID:0111415"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111414",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111414",
            "categories": []
        },
        {
            "id": "MONDO:0024541",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024541",
            "categories": []
        },
        {
            "id": "MIM:222470",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222470",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PGP7-1",
            "uniprot_ac": "Q6PGP7",
            "uniprot_id": "SKI3_HUMAN",
            "refseq_ac": "NP_055454",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "SKI complex component SKI3",
                    "type": "synonym"
                },
                {
                    "name": "SKI3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SKI3 subunit of superkiller complex protein",
                    "type": "synonym"
                },
                {
                    "name": "Ski3",
                    "type": "synonym"
                },
                {
                    "name": "TPR repeat protein 37",
                    "type": "synonym"
                },
                {
                    "name": "Tetratricopeptide repeat protein 37",
                    "type": "synonym"
                },
                {
                    "name": "Thespin",
                    "type": "synonym"
                },
                {
                    "name": "Tricho-hepatic-enteric syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "superkiller complex protein 3",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat domain 37",
                    "type": "synonym"
                },
                {
                    "name": "thespin",
                    "type": "synonym"
                },
                {
                    "name": "tricho-hepatic-enteric syndrome protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SKIC3",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0372",
                    "type": "synonym"
                },
                {
                    "name": "SKIC3",
                    "type": "synonym"
                },
                {
                    "name": "Ski3",
                    "type": "synonym"
                },
                {
                    "name": "THES",
                    "type": "synonym"
                },
                {
                    "name": "TTC37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PGP7-1",
            "evidence": [
                {
                    "id": "222470",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222470"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111414"
}