{
    "disease_id": "DOID:0081183",
    "recommended_name": {
        "id": "DOID:0081183",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081183",
        "name": "autosomal recessive intellectual developmental disorder 7",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "intellectual disability, autosomal recessive 7",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene."
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "TUSC3 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "intellectual disability, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "intellectual disability, autosomal recessive type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "mental retardation, autosomal recessive type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "MRT7",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "mental retardation, autosomal recessive 22",
            "description": ""
        },
        {
            "id": "MONDO:0012615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "name": "mental retardation, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MIM:611093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611093",
            "name": "Intellectual developmental disorder, autosomal recessive 7",
            "description": "Intellectual developmental disorder, autosomal recessive 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081183"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081183",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081183",
            "categories": []
        },
        {
            "id": "MONDO:0012615",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012615",
            "categories": []
        },
        {
            "id": "MIM:611093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q13454-1",
            "uniprot_ac": "Q13454",
            "uniprot_id": "TUSC3_HUMAN",
            "refseq_ac": "NP_006756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3",
                    "type": "recommended"
                },
                {
                    "name": "Magnesium uptake/transporter TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "Protein N33",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor candidate 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "magnesium uptake/transporter TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyltransferase 3 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "putative prostate cancer tumor suppressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUSC3",
                    "type": "recommended"
                },
                {
                    "name": "D8S1992",
                    "type": "synonym"
                },
                {
                    "name": "M33",
                    "type": "synonym"
                },
                {
                    "name": "MRT22",
                    "type": "synonym"
                },
                {
                    "name": "MRT7",
                    "type": "synonym"
                },
                {
                    "name": "MagT2",
                    "type": "synonym"
                },
                {
                    "name": "N33",
                    "type": "synonym"
                },
                {
                    "name": "OST3A",
                    "type": "synonym"
                },
                {
                    "name": "SLC58A2",
                    "type": "synonym"
                },
                {
                    "name": "TUSC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13454-1",
            "evidence": [
                {
                    "id": "7991",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/7991#disease"
                },
                {
                    "id": "0012615",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012615"
                },
                {
                    "id": "611093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611093"
                },
                {
                    "id": "TUSC3",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/TUSC3/#!details"
                },
                {
                    "id": "0081183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BTV1-1",
            "uniprot_ac": "Q8BTV1",
            "uniprot_id": "TUSC3_MOUSE",
            "refseq_ac": "NP_084530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3",
                    "type": "recommended"
                },
                {
                    "name": "Magnesium uptake/transporter TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "Protein N33",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor candidate 3",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "magnesium uptake/transporter TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharyl transferase subunit TUSC3",
                    "type": "synonym"
                },
                {
                    "name": "putative prostate cancer tumor suppressor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tusc3",
                    "type": "recommended"
                },
                {
                    "name": "N33",
                    "type": "synonym"
                },
                {
                    "name": "Tusc3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BTV1-1",
            "evidence": [
                {
                    "id": "0081183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03723-1",
            "uniprot_ac": "Q03723",
            "uniprot_id": "OST6_YEAST",
            "refseq_ac": "NP_013693",
            "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": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit OST6",
                    "type": "recommended"
                },
                {
                    "name": "OTase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase 37 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST6",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST6",
                    "type": "recommended"
                },
                {
                    "name": "OST6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03723-1",
            "evidence": [
                {
                    "id": "0081183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48439-1",
            "uniprot_ac": "P48439",
            "uniprot_id": "OST3_YEAST",
            "refseq_ac": "NP_014728",
            "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": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "Oligosaccharyl transferase 34 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit OST3",
                    "type": "synonym"
                },
                {
                    "name": "Oligosaccharyl transferase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-diphosphooligosaccharide--protein glycotransferase OST3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OST3",
                    "type": "recommended"
                },
                {
                    "name": "OST3",
                    "type": "synonym"
                },
                {
                    "name": "YOR3124W",
                    "type": "synonym"
                }
            ],
            "record_id": "P48439-1",
            "evidence": [
                {
                    "id": "0081183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081183"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAE2-1",
            "uniprot_ac": "A0A0G2KAE2",
            "uniprot_id": "A0A0G2KAE2_RAT",
            "refseq_ac": "XP_038950316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor suppressor candidate 3",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor candidate 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tusc3",
                    "type": "recommended"
                },
                {
                    "name": "Tusc3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KAE2-1",
            "evidence": [
                {
                    "id": "0081183",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081183"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081183"
}