{
    "disease_id": "DOID:0070072",
    "recommended_name": {
        "id": "DOID:0070072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070072",
        "name": "autosomal dominant intellectual developmental disorder 42",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070072",
            "name": "MRD42",
            "description": ""
        },
        {
            "id": "DOID:0070072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070072",
            "name": "autosomal dominant mental retardation 42",
            "description": ""
        },
        {
            "id": "DOID:0070072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070072",
            "name": "autosomal dominant non-syndromic intellectual disability 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "intellectual disability, autosomal dominant 42",
            "description": "Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "GNB1-related disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "GNB1-related neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "MRD42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "autosomal dominant intellectual disability 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "intellectual developmental disorder, autosomal dominant 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "intellectual disability, autosomal dominant 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "intellectual disability, autosomal dominant type 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "mental retardation, autosomal dominant 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "mental retardation, autosomal dominant type 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "GNB1 autosomal dominant non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "autosomal dominant non-syndromic intellectual disability 42",
            "description": ""
        },
        {
            "id": "MONDO:0014855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1",
            "description": ""
        },
        {
            "id": "MIM:616973",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616973",
            "name": "Intellectual developmental disorder, autosomal dominant 42",
            "description": "Intellectual developmental disorder, autosomal dominant 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070072"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070072",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070072",
            "categories": []
        },
        {
            "id": "MONDO:0014855",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014855",
            "categories": []
        },
        {
            "id": "MIM:616973",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616973",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q6PH57-1",
            "uniprot_ac": "Q6PH57",
            "uniprot_id": "GBB1_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "recommended"
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                    "name": "Transducin beta chain 1",
                    "type": "synonym"
                },
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                },
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                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnb1",
                    "type": "recommended"
                },
                {
                    "name": "gnb1a",
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                },
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                    "name": "gnb1",
                    "type": "synonym"
                },
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                    "name": "wu:fb50b09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj94h04",
                    "type": "synonym"
                }
            ],
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                }
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            "uniprot_ac": "P62874",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
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                    "name": "Transducin beta chain 1",
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                    "name": "Gnb1",
                    "type": "recommended"
                },
                {
                    "name": "Gnb-1",
                    "type": "synonym"
                },
                {
                    "name": "Gnb1",
                    "type": "synonym"
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                    "name": "Hg2a",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "Transducin beta chain 1",
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                },
                {
                    "name": "beta subunit, signal-transducing proteins GS/GI",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 72",
                    "type": "synonym"
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                {
                    "name": "transducin beta chain 1",
                    "type": "synonym"
                }
            ],
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                    "name": "GNB1",
                    "type": "recommended"
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                    "name": "GNB1",
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                },
                {
                    "name": "HG2A",
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                    "name": "MDS",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Guanine nucleotide-binding protein subunit beta",
                    "type": "recommended"
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                {
                    "name": "G protein subunit beta",
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                    "name": "STE4",
                    "type": "recommended"
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                    "name": "HMD2",
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                    "id": "0070072",
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            "uniprot_canonical_ac": "P54311-1",
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            "species": [
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1",
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                    "type": "synonym"
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                    "type": "synonym"
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            "uniprot_canonical_ac": "P26308-1",
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            "uniprot_id": "GBB1_DROME",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Guanine nucleotide-binding protein subunit beta-1",
                    "type": "recommended"
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                    "name": "G-protein beta 13F",
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                {
                    "name": "G[[beta]] brain",
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                    "name": "G b13F",
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                    "name": "anon-EST:Liang-1.22",
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            ],
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                    "name": "DNA damage-binding protein 2",
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                    "name": "DDB p48 subunit",
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                    "type": "synonym"
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                    "name": "UV-damaged DNA-binding protein 2",
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                    "name": "damage-specific DNA binding protein 2, 48kDa",
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                {
                    "name": "xeroderma pigmentosum group E protein",
                    "type": "synonym"
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                    "name": "DDB2",
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                    "name": "UV-DDB2",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070072"
}