{
    "disease_id": "DOID:0061037",
    "recommended_name": {
        "id": "DOID:0061037",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061037",
        "name": "autosomal dominant intellectual developmental disorder 64",
        "description": "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "intellectual developmental disorder, autosomal dominant 64",
            "description": ""
        },
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "ZNF292-related syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "MRD64",
            "description": ""
        },
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "ZNF292-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "intellectual developmental disorder, autosomal dominant 64",
            "description": ""
        },
        {
            "id": "MONDO:0030934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "name": "mental retardation, autosomal dominant 64",
            "description": ""
        },
        {
            "id": "MIM:619188",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619188",
            "name": "Intellectual developmental disorder, autosomal dominant 64",
            "description": "Intellectual developmental disorder, autosomal dominant 64"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061037"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061037",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061037",
            "categories": []
        },
        {
            "id": "MONDO:0030934",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030934",
            "categories": []
        },
        {
            "id": "MIM:619188",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619188",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SNV1-1",
            "uniprot_ac": "Q5SNV1",
            "uniprot_id": "Q5SNV1_DANRE",
            "refseq_ac": "NP_001025383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 292b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 292b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf292b",
                    "type": "recommended"
                },
                {
                    "name": "fj87a04",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-189a20.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj87a04",
                    "type": "synonym"
                },
                {
                    "name": "znf292b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SNV1-1",
            "evidence": [
                {
                    "id": "0061037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FBU0-1",
            "uniprot_ac": "E7FBU0",
            "uniprot_id": "E7FBU0_DANRE",
            "refseq_ac": "NP_001098611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 292a",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 292a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf292a",
                    "type": "recommended"
                },
                {
                    "name": "zgc:171671",
                    "type": "synonym"
                },
                {
                    "name": "znf292a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FBU0-1",
            "evidence": [
                {
                    "id": "0061037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2U2-1",
            "uniprot_ac": "Q9Z2U2",
            "uniprot_id": "ZN292_MOUSE",
            "refseq_ac": "NP_038917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 292",
                    "type": "recommended"
                },
                {
                    "name": "Zfp-15",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 15",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 15",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 292 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp292",
                    "type": "recommended"
                },
                {
                    "name": "5730450D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830493J20Rik",
                    "type": "synonym"
                },
                {
                    "name": "9430062L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Krox-10",
                    "type": "synonym"
                },
                {
                    "name": "Zfp-15",
                    "type": "synonym"
                },
                {
                    "name": "Zfp15",
                    "type": "synonym"
                },
                {
                    "name": "Zfp292",
                    "type": "synonym"
                },
                {
                    "name": "Zn-15",
                    "type": "synonym"
                },
                {
                    "name": "Zn-16",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0530",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2U2-1",
            "evidence": [
                {
                    "id": "0061037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60281-1",
            "uniprot_ac": "O60281",
            "uniprot_id": "ZN292_HUMAN",
            "refseq_ac": "NP_055836",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 292",
                    "type": "recommended"
                },
                {
                    "name": "16 zinc-finger domain protein",
                    "type": "synonym"
                },
                {
                    "name": "putative protein product of Nbla00365",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 292 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF292",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0530",
                    "type": "synonym"
                },
                {
                    "name": "MRD63",
                    "type": "synonym"
                },
                {
                    "name": "MRD64",
                    "type": "synonym"
                },
                {
                    "name": "Nbla00365",
                    "type": "synonym"
                },
                {
                    "name": "ZFP292",
                    "type": "synonym"
                },
                {
                    "name": "ZN-16",
                    "type": "synonym"
                },
                {
                    "name": "ZNF292",
                    "type": "synonym"
                },
                {
                    "name": "Zn-15",
                    "type": "synonym"
                },
                {
                    "name": "bA393I2.3",
                    "type": "synonym"
                }
            ],
            "record_id": "O60281-1",
            "evidence": [
                {
                    "id": "619188",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619188"
                },
                {
                    "id": "0061037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061037"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZXZ1-1",
            "uniprot_ac": "D3ZXZ1",
            "uniprot_id": "D3ZXZ1_RAT",
            "refseq_ac": "NP_001008879",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 292",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 292",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp292",
                    "type": "recommended"
                },
                {
                    "name": "Zfp292",
                    "type": "synonym"
                },
                {
                    "name": "Zn-15",
                    "type": "synonym"
                },
                {
                    "name": "Znf292",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZXZ1-1",
            "evidence": [
                {
                    "id": "0061037",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061037"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061037"
}
