{
    "disease_id": "DOID:0081222",
    "recommended_name": {
        "id": "DOID:0081222",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081222",
        "name": "autosomal recessive intellectual developmental disorder 60",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0044313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044313",
            "name": "intellectual disability, autosomal recessive 60",
            "description": ""
        },
        {
            "id": "MONDO:0044313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044313",
            "name": "intellectual disability, autosomal recessive 60",
            "description": ""
        },
        {
            "id": "MONDO:0044313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044313",
            "name": "MRT60",
            "description": ""
        },
        {
            "id": "MONDO:0044313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044313",
            "name": "mental retardation, autosomal recessive 60",
            "description": ""
        },
        {
            "id": "MIM:617432",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617432",
            "name": "Intellectual developmental disorder, autosomal recessive 60",
            "description": "Intellectual developmental disorder, autosomal recessive 60"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081222"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081222",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081222",
            "categories": []
        },
        {
            "id": "MONDO:0044313",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044313",
            "categories": []
        },
        {
            "id": "MIM:617432",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617432",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61216-1",
            "uniprot_ac": "P61216",
            "uniprot_id": "TAF13_MOUSE",
            "refseq_ac": "NP_079720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)18",
                    "type": "synonym"
                },
                {
                    "name": "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "TAF13 RNA polymerase II, TATA box-binding protein-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-18",
                    "type": "synonym"
                },
                {
                    "name": "TAFII18",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor, RNA polymerase II, K, 18kD",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf13",
                    "type": "recommended"
                },
                {
                    "name": "1810004N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "2010309N11Rik",
                    "type": "synonym"
                },
                {
                    "name": "TAFII18",
                    "type": "synonym"
                },
                {
                    "name": "Taf13",
                    "type": "synonym"
                },
                {
                    "name": "Taf2k",
                    "type": "synonym"
                }
            ],
            "record_id": "P61216-1",
            "evidence": [
                {
                    "id": "0081222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15543-1",
            "uniprot_ac": "Q15543",
            "uniprot_id": "TAF13_HUMAN",
            "refseq_ac": "NP_005636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)18",
                    "type": "synonym"
                },
                {
                    "name": "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-18",
                    "type": "synonym"
                },
                {
                    "name": "TAFII18",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 18 kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF13",
                    "type": "recommended"
                },
                {
                    "name": "MRT60",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)18",
                    "type": "synonym"
                },
                {
                    "name": "TAF13",
                    "type": "synonym"
                },
                {
                    "name": "TAF2K",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-18",
                    "type": "synonym"
                },
                {
                    "name": "TAFII18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15543-1",
            "evidence": [
                {
                    "id": "617432",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617432"
                },
                {
                    "id": "0081222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11747-1",
            "uniprot_ac": "P11747",
            "uniprot_id": "TAF13_YEAST",
            "refseq_ac": "NP_013611",
            "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": "Transcription initiation factor TFIID subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "Function unknown 81 protein",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-19",
                    "type": "synonym"
                },
                {
                    "name": "TAFII19",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 13",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 19 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Taf13p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF13",
                    "type": "recommended"
                },
                {
                    "name": "FUN81",
                    "type": "synonym"
                },
                {
                    "name": "TAF13",
                    "type": "synonym"
                },
                {
                    "name": "TAF19",
                    "type": "synonym"
                }
            ],
            "record_id": "P11747-1",
            "evidence": [
                {
                    "id": "0081222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LZ52-1",
            "uniprot_ac": "A0ABK0LZ52",
            "uniprot_id": "A0ABK0LZ52_RAT",
            "refseq_ac": "NP_001290545",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf13",
                    "type": "recommended"
                },
                {
                    "name": "Taf13",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LZ52-1",
            "evidence": [
                {
                    "id": "0081222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081222"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIP1-1",
            "uniprot_ac": "Q9VIP1",
            "uniprot_id": "Q9VIP1_DROME",
            "refseq_ac": "NP_610024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 13",
                    "type": "recommended"
                },
                {
                    "name": "CG10756-PA",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 13",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 18kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "Taf13-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 18 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf13",
                    "type": "recommended"
                },
                {
                    "name": "38B.15",
                    "type": "synonym"
                },
                {
                    "name": "CG10756",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10756",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10756",
                    "type": "synonym"
                },
                {
                    "name": "TAF13",
                    "type": "synonym"
                },
                {
                    "name": "TAF18",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]18",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]",
                    "type": "synonym"
                },
                {
                    "name": "TAF",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Taf13",
                    "type": "synonym"
                },
                {
                    "name": "Taf18",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]18",
                    "type": "synonym"
                },
                {
                    "name": "taf13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIP1-1",
            "evidence": [
                {
                    "id": "0081222",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081222"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081222"
}