{
    "disease_id": "DOID:0081205",
    "recommended_name": {
        "id": "DOID:0081205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081205",
        "name": "autosomal recessive intellectual developmental disorder 40",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "microcephaly-thin corpus callosum-intellectual disability syndrome",
            "description": "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated."
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "intellectual developmental disorder, autosomal recessive 40",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "intellectual disability, autosomal recessive type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "mental retardation, autosomal recessive type 40",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "microcephaly-thin corpus callosum-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "MRT40",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "intellectual disability, autosomal recessive 40",
            "description": ""
        },
        {
            "id": "MONDO:0014273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "name": "mental retardation, autosomal recessive 40",
            "description": ""
        },
        {
            "id": "MIM:615599",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615599",
            "name": "Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity",
            "description": "Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081205",
            "categories": []
        },
        {
            "id": "MONDO:0014273",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014273",
            "categories": []
        },
        {
            "id": "MIM:615599",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615599",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q32PW3-1",
            "uniprot_ac": "Q32PW3",
            "uniprot_id": "TAF2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "taf2",
                    "type": "recommended"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "fc30f02",
                    "type": "synonym"
                },
                {
                    "name": "fc56a05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc30f02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc56a05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32PW3-1",
            "evidence": [
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C176-1",
            "uniprot_ac": "Q8C176",
            "uniprot_id": "TAF2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "TAF(II)150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8C176-1",
            "evidence": [
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P1X5-1",
            "uniprot_ac": "Q6P1X5",
            "uniprot_id": "TAF2_HUMAN",
            "refseq_ac": "NP_003175",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "150 kDa cofactor of initiator function",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase II TBP-associated factor subunit B",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)150",
                    "type": "synonym"
                },
                {
                    "name": "TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cofactor of initiator function, 150kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF2",
                    "type": "recommended"
                },
                {
                    "name": "CIF150",
                    "type": "synonym"
                },
                {
                    "name": "MRT40",
                    "type": "synonym"
                },
                {
                    "name": "TAF2B",
                    "type": "synonym"
                },
                {
                    "name": "TAF2",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P1X5-1",
            "evidence": [
                {
                    "id": "615599",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615599"
                },
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23255-1",
            "uniprot_ac": "P23255",
            "uniprot_id": "TAF2_YEAST",
            "refseq_ac": "NP_009971",
            "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": "Transcription initiation factor TFIID subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 2",
                    "type": "synonym"
                },
                {
                    "name": "TSM-1",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit TAF2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF2",
                    "type": "recommended"
                },
                {
                    "name": "TAF150",
                    "type": "synonym"
                },
                {
                    "name": "TAF2",
                    "type": "synonym"
                },
                {
                    "name": "TSM1",
                    "type": "synonym"
                },
                {
                    "name": "YCR42C",
                    "type": "synonym"
                },
                {
                    "name": "YCR724",
                    "type": "synonym"
                }
            ],
            "record_id": "P23255-1",
            "evidence": [
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LNY6-1",
            "uniprot_ac": "F1LNY6",
            "uniprot_id": "F1LNY6_RAT",
            "refseq_ac": "NP_579853",
            "glycoprotein": "yes",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "TAF2 RNA polymerase II, TATA box binding protein-associated factor, 150 kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf2",
                    "type": "recommended"
                },
                {
                    "name": "TAFIIB",
                    "type": "synonym"
                },
                {
                    "name": "Taf2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LNY6-1",
            "evidence": [
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24325-1",
            "uniprot_ac": "Q24325",
            "uniprot_id": "TAF2_DROME",
            "refseq_ac": "NP_001261668",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6711-PB",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-150",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 150kD",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Taf2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 150 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf2",
                    "type": "recommended"
                },
                {
                    "name": "CG6711",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6711",
                    "type": "synonym"
                },
                {
                    "name": "TAF150",
                    "type": "synonym"
                },
                {
                    "name": "TAF2",
                    "type": "synonym"
                },
                {
                    "name": "TAFII150",
                    "type": "synonym"
                },
                {
                    "name": "TAF[II]150",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]150",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]",
                    "type": "synonym"
                },
                {
                    "name": "TAF",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Taf150",
                    "type": "synonym"
                },
                {
                    "name": "Taf2",
                    "type": "synonym"
                },
                {
                    "name": "TafII150",
                    "type": "synonym"
                },
                {
                    "name": "Taf[[II]]150",
                    "type": "synonym"
                },
                {
                    "name": "dTAF II 150",
                    "type": "synonym"
                },
                {
                    "name": "dTAF150",
                    "type": "synonym"
                },
                {
                    "name": "dTAFII150",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]150",
                    "type": "synonym"
                },
                {
                    "name": "taf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24325-1",
            "evidence": [
                {
                    "id": "0081205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081205"
}