{
    "disease_id": "DOID:0081442",
    "recommended_name": {
        "id": "DOID:0081442",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081442",
        "name": "blepharophimosis-impaired intellectual development syndrome",
        "description": "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0081442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081442",
            "name": "SMARCA2-related blepharophimosis-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0859139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859139",
            "name": "blepharophimosis-impaired intellectual development syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0859139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859139",
            "name": "SMARCA2-related blepharophimosis-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:619293",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619293",
            "name": "Blepharophimosis-impaired intellectual development syndrome",
            "description": "Blepharophimosis-impaired intellectual development syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081442"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081442",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081442",
            "categories": []
        },
        {
            "id": "MONDO:0859139",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859139",
            "categories": []
        },
        {
            "id": "MIM:619293",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619293",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DIC0-1",
            "uniprot_ac": "Q6DIC0",
            "uniprot_id": "SMCA2_MOUSE",
            "refseq_ac": "NP_001334368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190B",
                    "type": "synonym"
                },
                {
                    "name": "Probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "subunit of the SWI/SNF chromatin remodeling complex",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca2",
                    "type": "recommended"
                },
                {
                    "name": "2610209L14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Baf190b",
                    "type": "synonym"
                },
                {
                    "name": "Brm",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2alpha",
                    "type": "synonym"
                },
                {
                    "name": "Smarca2",
                    "type": "synonym"
                },
                {
                    "name": "Snf2a",
                    "type": "synonym"
                },
                {
                    "name": "Snf2l2",
                    "type": "synonym"
                },
                {
                    "name": "brahma",
                    "type": "synonym"
                },
                {
                    "name": "brm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DIC0-1",
            "evidence": [
                {
                    "id": "0081442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51531-1",
            "uniprot_ac": "P51531",
            "uniprot_id": "SMCA2_HUMAN",
            "refseq_ac": "NP_001276325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 190B",
                    "type": "synonym"
                },
                {
                    "name": "Probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "SNF2/SWI2-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "global transcription activator homologous sequence",
                    "type": "synonym"
                },
                {
                    "name": "hBRM",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "protein brahma homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative global transcription activator SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "sucrose nonfermenting 2-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCA2",
                    "type": "recommended"
                },
                {
                    "name": "BAF190B",
                    "type": "synonym"
                },
                {
                    "name": "BAF190",
                    "type": "synonym"
                },
                {
                    "name": "BIS",
                    "type": "synonym"
                },
                {
                    "name": "BRM",
                    "type": "synonym"
                },
                {
                    "name": "NCBRS",
                    "type": "synonym"
                },
                {
                    "name": "SAMRCA2",
                    "type": "synonym"
                },
                {
                    "name": "SMARCA2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2A",
                    "type": "synonym"
                },
                {
                    "name": "SNF2L2",
                    "type": "synonym"
                },
                {
                    "name": "SNF2LA",
                    "type": "synonym"
                },
                {
                    "name": "SNF2",
                    "type": "synonym"
                },
                {
                    "name": "SWI2",
                    "type": "synonym"
                },
                {
                    "name": "Sth1p",
                    "type": "synonym"
                },
                {
                    "name": "hBRM",
                    "type": "synonym"
                },
                {
                    "name": "hSNF2a",
                    "type": "synonym"
                }
            ],
            "record_id": "P51531-1",
            "evidence": [
                {
                    "id": "619293",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619293"
                },
                {
                    "id": "0081442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32597-1",
            "uniprot_ac": "P32597",
            "uniprot_id": "STH1_YEAST",
            "refseq_ac": "NP_012140",
            "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": "Nuclear protein STH1/NPS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase STH1",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin structure-remodeling complex protein STH1",
                    "type": "synonym"
                },
                {
                    "name": "RSC chromatin remodeling complex ATPase subunit STH1",
                    "type": "synonym"
                },
                {
                    "name": "SNF2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STH1",
                    "type": "recommended"
                },
                {
                    "name": "NPS1",
                    "type": "synonym"
                },
                {
                    "name": "STH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32597-1",
            "evidence": [
                {
                    "id": "0081442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PTG1-1",
            "uniprot_ac": "E9PTG1",
            "uniprot_id": "E9PTG1_RAT",
            "refseq_ac": "NP_001004446",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable global transcription activator SNF2L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarca2",
                    "type": "recommended"
                },
                {
                    "name": "Smarca2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PTG1-1",
            "evidence": [
                {
                    "id": "0081442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25439-1",
            "uniprot_ac": "P25439",
            "uniprot_id": "BRM_DROME",
            "refseq_ac": "NP_536745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Brahma chromatin-remodeling complex ATPase subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5942-PC",
                    "type": "synonym"
                },
                {
                    "name": "Homeotic gene regulator",
                    "type": "synonym"
                },
                {
                    "name": "Protein brahma",
                    "type": "synonym"
                },
                {
                    "name": "brahma, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "brahma",
                    "type": "synonym"
                },
                {
                    "name": "brm-PC",
                    "type": "synonym"
                },
                {
                    "name": "complementation group 3.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "brm",
                    "type": "recommended"
                },
                {
                    "name": "BRD",
                    "type": "synonym"
                },
                {
                    "name": "BRM",
                    "type": "synonym"
                },
                {
                    "name": "Brahma",
                    "type": "synonym"
                },
                {
                    "name": "Brg",
                    "type": "synonym"
                },
                {
                    "name": "Brm @ Kto",
                    "type": "synonym"
                },
                {
                    "name": "Brm",
                    "type": "synonym"
                },
                {
                    "name": "CG18438",
                    "type": "synonym"
                },
                {
                    "name": "CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5942",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5942",
                    "type": "synonym"
                },
                {
                    "name": "E(E2F)3A",
                    "type": "synonym"
                },
                {
                    "name": "brm",
                    "type": "synonym"
                },
                {
                    "name": "dBRM",
                    "type": "synonym"
                },
                {
                    "name": "dSMARCA4",
                    "type": "synonym"
                },
                {
                    "name": "dSNF2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Aa",
                    "type": "synonym"
                }
            ],
            "record_id": "P25439-1",
            "evidence": [
                {
                    "id": "0081442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081442"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081442"
}