{
    "disease_id": "DOID:0080236",
    "recommended_name": {
        "id": "DOID:0080236",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080236",
        "name": "autosomal dominant intellectual developmental disorder 45",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080236",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080236",
            "name": "autosomal dominant mental retardation 45",
            "description": ""
        },
        {
            "id": "MONDO:0030910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "name": "intellectual disability, autosomal dominant 45",
            "description": ""
        },
        {
            "id": "MONDO:0030910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "name": "intellectual disability, autosomal dominant 45",
            "description": ""
        },
        {
            "id": "MONDO:0030910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "name": "MRD45",
            "description": ""
        },
        {
            "id": "MONDO:0030910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "name": "autosomal dominant mental retardation 45",
            "description": ""
        },
        {
            "id": "MONDO:0030910",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "name": "mental retardation, autosomal dominant 45",
            "description": ""
        },
        {
            "id": "MIM:617600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617600",
            "name": "Intellectual developmental disorder, autosomal dominant 45",
            "description": "Intellectual developmental disorder, autosomal dominant 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080236"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080236",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080236",
            "categories": []
        },
        {
            "id": "MONDO:0030910",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030910",
            "categories": []
        },
        {
            "id": "MIM:617600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RP12-1",
            "uniprot_ac": "A0A8M1RP12",
            "uniprot_id": "A0A8M1RP12_DANRE",
            "refseq_ac": "XP_003200581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein capicua homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein capicua homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cica",
                    "type": "recommended"
                },
                {
                    "name": "cica",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RP12-1",
            "evidence": [
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BKS3-1",
            "uniprot_ac": "A0A8M2BKS3",
            "uniprot_id": "A0A8M2BKS3_DANRE",
            "refseq_ac": "XP_005173569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein capicua homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein capicua homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cicb",
                    "type": "recommended"
                },
                {
                    "name": "cicb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BKS3-1",
            "evidence": [
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924A2-4",
            "uniprot_ac": "Q924A2",
            "uniprot_id": "CIC_MOUSE",
            "refseq_ac": "NP_001289740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein capicua homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein capicua homolog isoform CIC-L",
                    "type": "synonym"
                },
                {
                    "name": "protein capicua homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cic",
                    "type": "recommended"
                },
                {
                    "name": "1200010B10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cic",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0306",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0306",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924A2-4",
            "evidence": [
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RK0-1",
            "uniprot_ac": "Q96RK0",
            "uniprot_id": "CIC_HUMAN",
            "refseq_ac": "NP_001291744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein capicua homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein capicua homolog isoform CIC-L",
                    "type": "synonym"
                },
                {
                    "name": "protein capicua homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIC",
                    "type": "recommended"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0306",
                    "type": "synonym"
                },
                {
                    "name": "MRD45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RK0-1",
            "evidence": [
                {
                    "id": "617600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617600"
                },
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A853-1",
            "uniprot_ac": "D4A853",
            "uniprot_id": "D4A853_RAT",
            "refseq_ac": "XP_008757160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein capicua homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein capicua homolog isoform X9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cic",
                    "type": "recommended"
                },
                {
                    "name": "Cic",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A853-1",
            "evidence": [
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U1H0-1",
            "uniprot_ac": "Q9U1H0",
            "uniprot_id": "CIC_DROME",
            "refseq_ac": "NP_001097843",
            "glycoprotein": "yes",
            "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 capicua",
                    "type": "recommended"
                },
                {
                    "name": "CG43122-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein fettucine",
                    "type": "synonym"
                },
                {
                    "name": "capicua, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "capicua",
                    "type": "synonym"
                },
                {
                    "name": "cic-PB",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of delta D49",
                    "type": "synonym"
                },
                {
                    "name": "fettucine",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cic",
                    "type": "recommended"
                },
                {
                    "name": "CG43122",
                    "type": "synonym"
                },
                {
                    "name": "CG5060",
                    "type": "synonym"
                },
                {
                    "name": "CG5067",
                    "type": "synonym"
                },
                {
                    "name": "CIC",
                    "type": "synonym"
                },
                {
                    "name": "CiC",
                    "type": "synonym"
                },
                {
                    "name": "Cic",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43122",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43122",
                    "type": "synonym"
                },
                {
                    "name": "E(Dl)D49",
                    "type": "synonym"
                },
                {
                    "name": "cics",
                    "type": "synonym"
                },
                {
                    "name": "cic",
                    "type": "synonym"
                },
                {
                    "name": "fet",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U1H0-1",
            "evidence": [
                {
                    "id": "0080236",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080236"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080236"
}