{
    "disease_id": "DOID:0070052",
    "recommended_name": {
        "id": "DOID:0070052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070052",
        "name": "autosomal dominant intellectual developmental disorder 22",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44."
    },
    "synonyms": [
        {
            "id": "DOID:0070052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070052",
            "name": "MRD22",
            "description": ""
        },
        {
            "id": "DOID:0070052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070052",
            "name": "autosomal dominant mental retardation 22",
            "description": ""
        },
        {
            "id": "DOID:0070052",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070052",
            "name": "autosomal dominant non-syndromic intellectual disability 22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "intellectual disability, autosomal dominant 22",
            "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene."
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "MRD22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "ZBTB18 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "autosomal dominant intellectual disability 22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "intellectual disability, autosomal dominant 22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "intellectual disability, autosomal dominant type 22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "mental retardation, autosomal dominant type 22",
            "description": ""
        },
        {
            "id": "MONDO:0012869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "name": "mental retardation, autosomal dominant 22",
            "description": ""
        },
        {
            "id": "MIM:612337",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612337",
            "name": "Intellectual developmental disorder, autosomal dominant 22",
            "description": "Intellectual developmental disorder, autosomal dominant 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070052",
            "categories": []
        },
        {
            "id": "MONDO:0012869",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012869",
            "categories": []
        },
        {
            "id": "MIM:612337",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612337",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8W0-1",
            "uniprot_ac": "Q1L8W0",
            "uniprot_id": "ZBT18_DANRE",
            "refseq_ac": "NP_001076421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain protein ZF238",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "novel zinc finger domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 238",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zbtb18",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-221n23.1",
                    "type": "synonym"
                },
                {
                    "name": "zbtb18",
                    "type": "synonym"
                },
                {
                    "name": "znf238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8W0-1",
            "evidence": [
                {
                    "id": "0070052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUK6-1",
            "uniprot_ac": "Q9WUK6",
            "uniprot_id": "ZBT18_MOUSE",
            "refseq_ac": "NP_001012330",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa repressor protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "Zfp-238",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 238",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb18",
                    "type": "recommended"
                },
                {
                    "name": "RP58",
                    "type": "synonym"
                },
                {
                    "name": "Rp58",
                    "type": "synonym"
                },
                {
                    "name": "Zbtb18",
                    "type": "synonym"
                },
                {
                    "name": "Zfp238",
                    "type": "synonym"
                },
                {
                    "name": "Znf238.",
                    "type": "synonym"
                },
                {
                    "name": "Znf238",
                    "type": "synonym"
                },
                {
                    "name": "zfp-238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUK6-1",
            "evidence": [
                {
                    "id": "0070052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99592-1",
            "uniprot_ac": "Q99592",
            "uniprot_id": "ZBT18_HUMAN",
            "refseq_ac": "NP_001265125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa repressor protein",
                    "type": "synonym"
                },
                {
                    "name": "TAZ-1",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "Translin-associated zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein C2H2-171",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "translin-associated zinc finger protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein C2H2-171",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZBTB18",
                    "type": "recommended"
                },
                {
                    "name": "C1DELq42q44",
                    "type": "synonym"
                },
                {
                    "name": "C1DELq43q44",
                    "type": "synonym"
                },
                {
                    "name": "C2H2-171",
                    "type": "synonym"
                },
                {
                    "name": "DEL1Q42Q44",
                    "type": "synonym"
                },
                {
                    "name": "DEL1Q43Q44",
                    "type": "synonym"
                },
                {
                    "name": "MRD22",
                    "type": "synonym"
                },
                {
                    "name": "RP58",
                    "type": "synonym"
                },
                {
                    "name": "TAZ-1",
                    "type": "synonym"
                },
                {
                    "name": "TAZ1",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB18",
                    "type": "synonym"
                },
                {
                    "name": "ZNF238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99592-1",
            "evidence": [
                {
                    "id": "612337",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612337"
                },
                {
                    "id": "0070052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKY3-1",
            "uniprot_ac": "Q9JKY3",
            "uniprot_id": "ZBT18_RAT",
            "refseq_ac": "NP_073169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "58 kDa repressor protein",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "rRP58",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor RP58",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 18",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 238",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb18",
                    "type": "recommended"
                },
                {
                    "name": "Rp58",
                    "type": "synonym"
                },
                {
                    "name": "Zbtb18",
                    "type": "synonym"
                },
                {
                    "name": "Zfp238",
                    "type": "synonym"
                },
                {
                    "name": "Znf238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKY3-1",
            "evidence": [
                {
                    "id": "0070052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070052"
}