{
    "disease_id": "DOID:0061046",
    "recommended_name": {
        "id": "DOID:0061046",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061046",
        "name": "autosomal dominant intellectual developmental disorder 73",
        "description": "An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0957536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957536",
            "name": "intellectual developmental disorder, autosomal dominant 73",
            "description": ""
        },
        {
            "id": "MIM:620450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620450",
            "name": "Intellectual developmental disorder, autosomal dominant 73",
            "description": "Intellectual developmental disorder, autosomal dominant 73"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061046"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061046",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061046",
            "categories": []
        },
        {
            "id": "MONDO:0957536",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957536",
            "categories": []
        },
        {
            "id": "MIM:620450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5R0-1",
            "uniprot_ac": "A0ACD6B5R0",
            "uniprot_id": "A0ACD6B5R0_DANRE",
            "refseq_ac": "XP_005172945",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "taf4a",
                    "type": "recommended"
                },
                {
                    "name": "taf4a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5R0-1",
            "evidence": [
                {
                    "id": "0061046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QAP7-1",
            "uniprot_ac": "E9QAP7",
            "uniprot_id": "E9QAP7_MOUSE",
            "refseq_ac": "NP_001074561",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kd",
                    "type": "synonym"
                },
                {
                    "name": "TATA-box binding protein associated factor 4",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4",
                    "type": "recommended"
                },
                {
                    "name": "135kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII130",
                    "type": "synonym"
                },
                {
                    "name": "TAFII135",
                    "type": "synonym"
                },
                {
                    "name": "Taf2c1",
                    "type": "synonym"
                },
                {
                    "name": "Taf4a",
                    "type": "synonym"
                },
                {
                    "name": "Taf4",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QAP7-1",
            "evidence": [
                {
                    "id": "0061046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00268-1",
            "uniprot_ac": "O00268",
            "uniprot_id": "TAF4_HUMAN",
            "refseq_ac": "NP_003176",
            "glycoprotein": "yes",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "RNA polymerase II TBP-associated factor subunit C",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)130",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)135",
                    "type": "synonym"
                },
                {
                    "name": "TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-130",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-135",
                    "type": "synonym"
                },
                {
                    "name": "TAFII130",
                    "type": "synonym"
                },
                {
                    "name": "TAFII135",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 4",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 130 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 135 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 130 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 135 kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 135 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF4",
                    "type": "recommended"
                },
                {
                    "name": "MRD73",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)130",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)135",
                    "type": "synonym"
                },
                {
                    "name": "TAF2C1",
                    "type": "synonym"
                },
                {
                    "name": "TAF2C",
                    "type": "synonym"
                },
                {
                    "name": "TAF4A",
                    "type": "synonym"
                },
                {
                    "name": "TAF4",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-130",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-135",
                    "type": "synonym"
                },
                {
                    "name": "TAFII130",
                    "type": "synonym"
                },
                {
                    "name": "TAFII135",
                    "type": "synonym"
                }
            ],
            "record_id": "O00268-1",
            "evidence": [
                {
                    "id": "620450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620450"
                },
                {
                    "id": "0061046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K849-1",
            "uniprot_ac": "A0A0G2K849",
            "uniprot_id": "A0A0G2K849_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TATA-box binding protein associated factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K849-1",
            "evidence": [
                {
                    "id": "0061046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47825-1",
            "uniprot_ac": "P47825",
            "uniprot_id": "TAF4_DROME",
            "refseq_ac": "NP_001163453",
            "glycoprotein": "yes",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "110 kDa TBP-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "CG5444-PF",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-110",
                    "type": "synonym"
                },
                {
                    "name": "TATA-associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 110kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 110",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 4, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Taf4-PF",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 110 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)72Dj",
                    "type": "synonym"
                },
                {
                    "name": "p110",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf4",
                    "type": "recommended"
                },
                {
                    "name": "CG5444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5444",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5444",
                    "type": "synonym"
                },
                {
                    "name": "SR3-3",
                    "type": "synonym"
                },
                {
                    "name": "SY3-2 TAF110",
                    "type": "synonym"
                },
                {
                    "name": "TAF110",
                    "type": "synonym"
                },
                {
                    "name": "TAF4",
                    "type": "synonym"
                },
                {
                    "name": "TAFII110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[II]110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]",
                    "type": "synonym"
                },
                {
                    "name": "TAF",
                    "type": "synonym"
                },
                {
                    "name": "TFIID 110",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Taf110",
                    "type": "synonym"
                },
                {
                    "name": "Taf4",
                    "type": "synonym"
                },
                {
                    "name": "Taf[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "d110",
                    "type": "synonym"
                },
                {
                    "name": "dTAF4",
                    "type": "synonym"
                },
                {
                    "name": "dTAFII110",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]110",
                    "type": "synonym"
                },
                {
                    "name": "dmTAF4",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Dj",
                    "type": "synonym"
                },
                {
                    "name": "p110",
                    "type": "synonym"
                },
                {
                    "name": "taf110",
                    "type": "synonym"
                },
                {
                    "name": "taf4",
                    "type": "synonym"
                }
            ],
            "record_id": "P47825-1",
            "evidence": [
                {
                    "id": "0061046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061046"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061046"
}