{
    "disease_id": "DOID:0081098",
    "recommended_name": {
        "id": "DOID:0081098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081098",
        "name": "autosomal recessive intellectual developmental disorder 13",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "intellectual disability, autosomal recessive 13",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene."
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "TRAPPC9 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "intellectual disability, autosomal recessive 13",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "intellectual disability, autosomal recessive type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "mental retardation, autosomal recessive type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "MRT13",
            "description": ""
        },
        {
            "id": "MONDO:0013173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "name": "mental retardation, autosomal recessive 13",
            "description": ""
        },
        {
            "id": "MIM:613192",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613192",
            "name": "Intellectual developmental disorder, autosomal recessive 13",
            "description": "Intellectual developmental disorder, autosomal recessive 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081098",
            "categories": []
        },
        {
            "id": "MONDO:0013173",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013173",
            "categories": []
        },
        {
            "id": "MIM:613192",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613192",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3U0M1-1",
            "uniprot_ac": "Q3U0M1",
            "uniprot_id": "TPPC9_MOUSE",
            "refseq_ac": "NP_001158113",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 9",
                    "type": "recommended"
                },
                {
                    "name": "Ikk2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NIK and IKK(beta) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NIK- and IKBKB-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 9 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc9",
                    "type": "recommended"
                },
                {
                    "name": "1810044A24Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900005P22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4632408O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ibp",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1882",
                    "type": "synonym"
                },
                {
                    "name": "Nibp",
                    "type": "synonym"
                },
                {
                    "name": "TRS130",
                    "type": "synonym"
                },
                {
                    "name": "Trappc9",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1882",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U0M1-1",
            "evidence": [
                {
                    "id": "0081098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96Q05-1",
            "uniprot_ac": "Q96Q05",
            "uniprot_id": "TPPC9_HUMAN",
            "refseq_ac": "NP_001153844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex subunit 9",
                    "type": "recommended"
                },
                {
                    "name": "IKK2 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NIK and IKK-beta binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NIK- and IKBKB-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "TRAPP 120 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Tularik gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 9",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 9 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "tularik gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRAPPC9",
                    "type": "recommended"
                },
                {
                    "name": "IBP",
                    "type": "synonym"
                },
                {
                    "name": "IKBKBBP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1882",
                    "type": "synonym"
                },
                {
                    "name": "MRT13",
                    "type": "synonym"
                },
                {
                    "name": "NIBP",
                    "type": "synonym"
                },
                {
                    "name": "T1",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC9",
                    "type": "synonym"
                },
                {
                    "name": "TRS120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96Q05-1",
            "evidence": [
                {
                    "id": "613192",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613192"
                },
                {
                    "id": "0081098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04183-1",
            "uniprot_ac": "Q04183",
            "uniprot_id": "TR120_YEAST",
            "refseq_ac": "NP_010695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Trafficking protein particle complex II-specific subunit 120",
                    "type": "recommended"
                },
                {
                    "name": "TRAPP II-specific subunit 120",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPII-specific subunit TRS120",
                    "type": "synonym"
                },
                {
                    "name": "Transport protein particle 120 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRS120",
                    "type": "recommended"
                },
                {
                    "name": "D9509.25",
                    "type": "synonym"
                },
                {
                    "name": "ESBP10",
                    "type": "synonym"
                },
                {
                    "name": "TRS120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04183-1",
            "evidence": [
                {
                    "id": "0081098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU02-1",
            "uniprot_ac": "E9PU02",
            "uniprot_id": "E9PU02_RAT",
            "refseq_ac": "NP_001029328",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NIK and IKK(beta) binding protein",
                    "type": "synonym"
                },
                {
                    "name": "NIK and IKK{beta} binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Trafficking protein particle complex subunit 9",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex 9",
                    "type": "synonym"
                },
                {
                    "name": "trafficking protein particle complex subunit 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trappc9",
                    "type": "recommended"
                },
                {
                    "name": "Nibp",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309461",
                    "type": "synonym"
                },
                {
                    "name": "Trappc9",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU02-1",
            "evidence": [
                {
                    "id": "0081098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIL0-1",
            "uniprot_ac": "Q9VIL0",
            "uniprot_id": "BRUN_DROME",
            "refseq_ac": "NP_610044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein brunelleschi",
                    "type": "recommended"
                },
                {
                    "name": "CG2478-PA",
                    "type": "synonym"
                },
                {
                    "name": "NIK- and IKBKB-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "brun-PA",
                    "type": "synonym"
                },
                {
                    "name": "brunelleschi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brun",
                    "type": "recommended"
                },
                {
                    "name": "38D.28",
                    "type": "synonym"
                },
                {
                    "name": "CG2478",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2478",
                    "type": "synonym"
                },
                {
                    "name": "TRAPPC9",
                    "type": "synonym"
                },
                {
                    "name": "brun",
                    "type": "synonym"
                },
                {
                    "name": "bru",
                    "type": "synonym"
                },
                {
                    "name": "dTRAPPC9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIL0-1",
            "evidence": [
                {
                    "id": "0081098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081098"
}