{
    "disease_id": "DOID:0061044",
    "recommended_name": {
        "id": "DOID:0061044",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061044",
        "name": "autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0957228",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957228",
            "name": "intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620330",
            "name": "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities",
            "description": "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061044",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061044",
            "categories": []
        },
        {
            "id": "MONDO:0957228",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957228",
            "categories": []
        },
        {
            "id": "MIM:620330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8VPJ6-1",
            "uniprot_ac": "F8VPJ6",
            "uniprot_id": "RFX7_MOUSE",
            "refseq_ac": "NP_001028708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein RFX7",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein RFX7",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory factor X 7",
                    "type": "synonym"
                },
                {
                    "name": "regulatory factor X domain containing 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rfx7",
                    "type": "recommended"
                },
                {
                    "name": "2510005N23Rik",
                    "type": "synonym"
                },
                {
                    "name": "9930116O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D130086K05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rfx7",
                    "type": "synonym"
                },
                {
                    "name": "Rfxdc2",
                    "type": "synonym"
                }
            ],
            "record_id": "F8VPJ6-1",
            "evidence": [
                {
                    "id": "0061044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2KHR2-3",
            "uniprot_ac": "Q2KHR2",
            "uniprot_id": "RFX7_HUMAN",
            "refseq_ac": "NP_001355002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein RFX7",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein RFX7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein RFX7",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory factor X 7",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory factor X domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "regulatory factor X domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "regulatory factor X domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "regulatory factor X, 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RFX7",
                    "type": "recommended"
                },
                {
                    "name": "MRD71",
                    "type": "synonym"
                },
                {
                    "name": "RFX7",
                    "type": "synonym"
                },
                {
                    "name": "RFXDC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2KHR2-3",
            "evidence": [
                {
                    "id": "620330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620330"
                },
                {
                    "id": "0061044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT49-1",
            "uniprot_ac": "E9PT49",
            "uniprot_id": "E9PT49_RAT",
            "refseq_ac": "NP_001120962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein RFX7",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory factor X, 7",
                    "type": "synonym"
                },
                {
                    "name": "regulatory factor X domain containing 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rfx7",
                    "type": "recommended"
                },
                {
                    "name": "Rfx7",
                    "type": "synonym"
                },
                {
                    "name": "Rfxdc2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PT49-1",
            "evidence": [
                {
                    "id": "0061044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061044"
}