{
    "disease_id": "DOID:0070048",
    "recommended_name": {
        "id": "DOID:0070048",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070048",
        "name": "GAND syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070048",
            "name": "MRD18",
            "description": ""
        },
        {
            "id": "DOID:0070048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070048",
            "name": "autosomal dominant mental retardation 18",
            "description": ""
        },
        {
            "id": "DOID:0070048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070048",
            "name": "autosomal dominant intellectual developmental disorder 18",
            "description": ""
        },
        {
            "id": "DOID:0070048",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070048",
            "name": "autosomal dominant non-syndromic intellectual disability 18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3."
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "GAND syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "MRD18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "autosomal dominant intellectual disability 18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "intellectual disability, autosomal dominant type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "mental retardation, autosomal dominant type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "GATAD2B-associated neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "intellectual disability, autosomal dominant 18",
            "description": ""
        },
        {
            "id": "MONDO:0014034",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "name": "mental retardation, autosomal dominant 18",
            "description": ""
        },
        {
            "id": "MIM:615074",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615074",
            "name": "Gand syndrome",
            "description": "Gand syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070048"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070048",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070048",
            "categories": []
        },
        {
            "id": "MONDO:0014034",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014034",
            "categories": []
        },
        {
            "id": "MIM:615074",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615074",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N9R4-1",
            "uniprot_ac": "A0A8M1N9R4",
            "uniprot_id": "A0A8M1N9R4_DANRE",
            "refseq_ac": "NP_001038440",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor p66-beta",
                    "type": "synonym"
                },
                {
                    "name": "transcription repressor p66-like",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor p66-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gatad2b",
                    "type": "recommended"
                },
                {
                    "name": "gatad2b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-66g8.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N9R4-1",
            "evidence": [
                {
                    "id": "0070048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHR5-1",
            "uniprot_ac": "Q8VHR5",
            "uniprot_id": "P66B_MOUSE",
            "refseq_ac": "NP_647465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor p66-beta",
                    "type": "recommended"
                },
                {
                    "name": "GATA zinc finger domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "p66/p68",
                    "type": "synonym"
                },
                {
                    "name": "transcription repressor p66 beta component of the MeCP1 complex",
                    "type": "synonym"
                },
                {
                    "name": "transcription repressor p66 component of the MeCP1 complex",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor p66-beta isoform a",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor p66-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatad2b",
                    "type": "recommended"
                },
                {
                    "name": "C430014D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gatad2b",
                    "type": "synonym"
                },
                {
                    "name": "P66beta",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHR5-1",
            "evidence": [
                {
                    "id": "0070048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXI9-1",
            "uniprot_ac": "Q8WXI9",
            "uniprot_id": "P66B_HUMAN",
            "refseq_ac": "NP_065750",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional repressor p66-beta",
                    "type": "recommended"
                },
                {
                    "name": "GATA zinc finger domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "p66/p68",
                    "type": "synonym"
                },
                {
                    "name": "transcription repressor p66 beta component of the MeCP1 complex",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor p66-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATAD2B",
                    "type": "recommended"
                },
                {
                    "name": "GANDS",
                    "type": "synonym"
                },
                {
                    "name": "GATAD2B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1150",
                    "type": "synonym"
                },
                {
                    "name": "MRD18",
                    "type": "synonym"
                },
                {
                    "name": "P66beta",
                    "type": "synonym"
                },
                {
                    "name": "p68",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXI9-1",
            "evidence": [
                {
                    "id": "615074",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615074"
                },
                {
                    "id": "0070048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JZR6-1",
            "uniprot_ac": "A0A0G2JZR6",
            "uniprot_id": "A0A0G2JZR6_RAT",
            "refseq_ac": "XP_038958229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA zinc finger domain containing 2B",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional repressor p66-beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatad2b",
                    "type": "recommended"
                },
                {
                    "name": "Gatad2b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308533",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JZR6-1",
            "evidence": [
                {
                    "id": "0070048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070048"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PF79-1",
            "uniprot_ac": "M9PF79",
            "uniprot_id": "M9PF79_DROME",
            "refseq_ac": "NP_001261685",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32067-PE",
                    "type": "synonym"
                },
                {
                    "name": "Simjang, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "simj-PE",
                    "type": "synonym"
                },
                {
                    "name": "simjang, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "simj",
                    "type": "recommended"
                },
                {
                    "name": "68-like",
                    "type": "synonym"
                },
                {
                    "name": "68",
                    "type": "synonym"
                },
                {
                    "name": "CG32067",
                    "type": "synonym"
                },
                {
                    "name": "CG7983",
                    "type": "synonym"
                },
                {
                    "name": "CG8000",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32067",
                    "type": "synonym"
                },
                {
                    "name": "SIMJ",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.361",
                    "type": "synonym"
                },
                {
                    "name": "dp66",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01814",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j4A5",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rN672",
                    "type": "synonym"
                },
                {
                    "name": "p66/68-like",
                    "type": "synonym"
                },
                {
                    "name": "p66/68",
                    "type": "synonym"
                },
                {
                    "name": "p66",
                    "type": "synonym"
                },
                {
                    "name": "simj",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PF79-1",
            "evidence": [
                {
                    "id": "0070048",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070048"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070048"
}