{
    "disease_id": "DOID:0081230",
    "recommended_name": {
        "id": "DOID:0081230",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081230",
        "name": "autosomal recessive intellectual developmental disorder 69",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12."
    },
    "synonyms": [
        {
            "id": "DOID:0081230",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081230",
            "name": "neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0032715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032715",
            "name": "intellectual developmental disorder, autosomal recessive 69",
            "description": ""
        },
        {
            "id": "MONDO:0032715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032715",
            "name": "MRT69",
            "description": ""
        },
        {
            "id": "MIM:618383",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618383",
            "name": "Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities",
            "description": "Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081230"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081230",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081230",
            "categories": []
        },
        {
            "id": "MONDO:0032715",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032715",
            "categories": []
        },
        {
            "id": "MIM:618383",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618383",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RAC1-1",
            "uniprot_ac": "F1RAC1",
            "uniprot_id": "F1RAC1_DANRE",
            "refseq_ac": "NP_997815",
            "glycoprotein": "yes",
            "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 11",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zbtb11",
                    "type": "recommended"
                },
                {
                    "name": "ZNF-U69274",
                    "type": "synonym"
                },
                {
                    "name": "man",
                    "type": "synonym"
                },
                {
                    "name": "marsanne",
                    "type": "synonym"
                },
                {
                    "name": "mne",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-98p3.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-116g9.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe36e08",
                    "type": "synonym"
                },
                {
                    "name": "zbtb11",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RAC1-1",
            "evidence": [
                {
                    "id": "0081230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G5E8B9-1",
            "uniprot_ac": "G5E8B9",
            "uniprot_id": "ZBT11_MOUSE",
            "refseq_ac": "NP_766614",
            "glycoprotein": "no",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb11",
                    "type": "recommended"
                },
                {
                    "name": "9230110G02Rik",
                    "type": "synonym"
                },
                {
                    "name": "ZNF-U69274",
                    "type": "synonym"
                },
                {
                    "name": "Zbtb11",
                    "type": "synonym"
                }
            ],
            "record_id": "G5E8B9-1",
            "evidence": [
                {
                    "id": "0081230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95625-1",
            "uniprot_ac": "O95625",
            "uniprot_id": "ZBT11_HUMAN",
            "refseq_ac": "NP_055230",
            "glycoprotein": "yes",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZBTB11",
                    "type": "recommended"
                },
                {
                    "name": "MRT69",
                    "type": "synonym"
                },
                {
                    "name": "ZBTB11",
                    "type": "synonym"
                },
                {
                    "name": "ZNF-U69274",
                    "type": "synonym"
                },
                {
                    "name": "ZNF913",
                    "type": "synonym"
                }
            ],
            "record_id": "O95625-1",
            "evidence": [
                {
                    "id": "618383",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618383"
                },
                {
                    "id": "0081230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDP9-1",
            "uniprot_ac": "D3ZDP9",
            "uniprot_id": "D3ZDP9_RAT",
            "refseq_ac": "NP_001100567",
            "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 11",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zbtb11",
                    "type": "recommended"
                },
                {
                    "name": "Zbtb11",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDP9-1",
            "evidence": [
                {
                    "id": "0081230",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081230"
}