{
    "disease_id": "DOID:0061049",
    "recommended_name": {
        "id": "DOID:0061049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061049",
        "name": "autosomal dominant intellectual developmental disorder type FRA12A",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0007634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007634",
            "name": "intellectual disability, FRA12A type",
            "description": ""
        },
        {
            "id": "MONDO:0007634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007634",
            "name": "intellectual disability, FRA12A type",
            "description": ""
        },
        {
            "id": "MONDO:0007634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007634",
            "name": "mental retardation, FRA12A type",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061049"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061049",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061049",
            "categories": []
        },
        {
            "id": "MONDO:0007634",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007634",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NVJ5-1",
            "uniprot_ac": "Q6NVJ5",
            "uniprot_id": "DI2BA_DANRE",
            "refseq_ac": "NP_998128",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disco-interacting protein 2 homolog B-A",
                    "type": "recommended"
                },
                {
                    "name": "DIP2 disco-interacting protein 2 homolog Ba",
                    "type": "synonym"
                },
                {
                    "name": "DIP2 disco-interacting protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "DIP2 homolog B-A",
                    "type": "synonym"
                },
                {
                    "name": "DIP2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog B-A",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog Ba",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dip2ba",
                    "type": "recommended"
                },
                {
                    "name": "dip2ba",
                    "type": "synonym"
                },
                {
                    "name": "dip2b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77348",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVJ5-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3BAI5-1",
            "uniprot_ac": "A0A8M3BAI5",
            "uniprot_id": "A0A8M3BAI5_DANRE",
            "refseq_ac": "XP_021327498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disco-interacting protein 2 homolog B-A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog B-A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dip2bb",
                    "type": "recommended"
                },
                {
                    "name": "dip2bb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BAI5-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UH60-1",
            "uniprot_ac": "Q3UH60",
            "uniprot_id": "DIP2B_MOUSE",
            "refseq_ac": "NP_001152833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disco-interacting protein 2 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "DIP2 disco-interacting protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "DIP2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog B isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dip2b",
                    "type": "recommended"
                },
                {
                    "name": "4932422C22",
                    "type": "synonym"
                },
                {
                    "name": "Dip2b",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1463",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1463",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UH60-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12275-1",
            "uniprot_ac": "Q12275",
            "uniprot_id": "CRM2_YEAST",
            "refseq_ac": "NP_014736",
            "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": "Homeostatic regulator of DAG",
                    "type": "recommended"
                },
                {
                    "name": "6.2.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Changed mutation rate protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Cmr2p",
                    "type": "synonym"
                },
                {
                    "name": "DISCO-interacting protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRM2",
                    "type": "recommended"
                },
                {
                    "name": "CMR2",
                    "type": "synonym"
                },
                {
                    "name": "DIP2",
                    "type": "synonym"
                },
                {
                    "name": "YOR3170c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12275-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M0J6-1",
            "uniprot_ac": "A0ABK0M0J6",
            "uniprot_id": "A0ABK0M0J6_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": "Disco-interacting protein 2 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dip2b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M0J6-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0S9-1",
            "uniprot_ac": "Q9W0S9",
            "uniprot_id": "DIP2_DROME",
            "refseq_ac": "NP_612019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disco-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG7020-PA",
                    "type": "synonym"
                },
                {
                    "name": "DIP2-PA",
                    "type": "synonym"
                },
                {
                    "name": "DISCO interacting protein 2, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIP2",
                    "type": "recommended"
                },
                {
                    "name": "CG7020",
                    "type": "synonym"
                },
                {
                    "name": "DIP2",
                    "type": "synonym"
                },
                {
                    "name": "Ddip2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7020",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7020",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0S9-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P265-1",
            "uniprot_ac": "Q9P265",
            "uniprot_id": "DIP2B_HUMAN",
            "refseq_ac": "NP_775873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disco-interacting protein 2 homolog B",
                    "type": "recommended"
                },
                {
                    "name": "DIP2 disco-interacting protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "DIP2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "disco interacting protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "disco-interacting protein 2 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "disconnected interacting protein 2 homolog B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIP2B",
                    "type": "recommended"
                },
                {
                    "name": "DIP2B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1463",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P265-1",
            "evidence": [
                {
                    "id": "0061049",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061049"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061049"
}