{
    "disease_id": "DOID:0070057",
    "recommended_name": {
        "id": "DOID:0070057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070057",
        "name": "Coffin-Siris syndrome 9",
        "description": "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "MRD27",
            "description": ""
        },
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "autosomal dominant mental retardation 27",
            "description": ""
        },
        {
            "id": "DOID:0070057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "name": "autosomal dominant non-syndromic intellectual disability 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "CSS9",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "Coffin-Siris syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "MRD27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "autosomal dominant intellectual disability 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual disability, autosomal dominant 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "intellectual disability, autosomal dominant type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "mental retardation, autosomal dominant type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "name": "mental retardation, autosomal dominant 27",
            "description": ""
        },
        {
            "id": "MIM:615866",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615866",
            "name": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism",
            "description": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070057"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070057",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070057",
            "categories": []
        },
        {
            "id": "MONDO:0014376",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014376",
            "categories": []
        },
        {
            "id": "MIM:615866",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615866",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7M6Y2-1",
            "uniprot_ac": "Q7M6Y2",
            "uniprot_id": "SOX11_MOUSE",
            "refseq_ac": "NP_033260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-11",
                    "type": "recommended"
                },
                {
                    "name": "SRY-box containing gene 11",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox11",
                    "type": "recommended"
                },
                {
                    "name": "1110038H03Rik",
                    "type": "synonym"
                },
                {
                    "name": "6230403H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sox-11",
                    "type": "synonym"
                },
                {
                    "name": "Sox11",
                    "type": "synonym"
                },
                {
                    "name": "end1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7M6Y2-1",
            "evidence": [
                {
                    "id": "0070057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35716-1",
            "uniprot_ac": "P35716",
            "uniprot_id": "SOX11_HUMAN",
            "refseq_ac": "NP_003099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-11",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex-determining region Y)-box 11",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 11",
                    "type": "synonym"
                },
                {
                    "name": "SRY-related HMG-box gene 11",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX11",
                    "type": "recommended"
                },
                {
                    "name": "CSS9",
                    "type": "synonym"
                },
                {
                    "name": "IDDMOH",
                    "type": "synonym"
                },
                {
                    "name": "MRD27",
                    "type": "synonym"
                },
                {
                    "name": "SOX11",
                    "type": "synonym"
                }
            ],
            "record_id": "P35716-1",
            "evidence": [
                {
                    "id": "615866",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615866"
                },
                {
                    "id": "0070057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C1G9-1",
            "uniprot_ac": "P0C1G9",
            "uniprot_id": "SOX11_RAT",
            "refseq_ac": "NP_445801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-11",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 11",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 11",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 11",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox11",
                    "type": "recommended"
                },
                {
                    "name": "Sox11",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C1G9-1",
            "evidence": [
                {
                    "id": "0070057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40656-1",
            "uniprot_ac": "P40656",
            "uniprot_id": "SOX14_DROME",
            "refseq_ac": "NP_001286801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative transcription factor SOX-14",
                    "type": "recommended"
                },
                {
                    "name": "CG3090-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sox box protein 14, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Sox14-PC",
                    "type": "synonym"
                },
                {
                    "name": "sox box protein 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox14",
                    "type": "recommended"
                },
                {
                    "name": "CG17263",
                    "type": "synonym"
                },
                {
                    "name": "CG3090",
                    "type": "synonym"
                },
                {
                    "name": "DSox-14",
                    "type": "synonym"
                },
                {
                    "name": "DSox14",
                    "type": "synonym"
                },
                {
                    "name": "DSox60B",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3090",
                    "type": "synonym"
                },
                {
                    "name": "Dsox-14",
                    "type": "synonym"
                },
                {
                    "name": "SOX14",
                    "type": "synonym"
                },
                {
                    "name": "SOX60B",
                    "type": "synonym"
                },
                {
                    "name": "SOXC",
                    "type": "synonym"
                },
                {
                    "name": "Sox-14",
                    "type": "synonym"
                },
                {
                    "name": "Sox14",
                    "type": "synonym"
                },
                {
                    "name": "sox14",
                    "type": "synonym"
                }
            ],
            "record_id": "P40656-1",
            "evidence": [
                {
                    "id": "0070057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070057"
}