{
    "disease_id": "DOID:0081008",
    "recommended_name": {
        "id": "DOID:0081008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081008",
        "name": "Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia",
        "description": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0081008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081008",
            "name": "intellectual developmental disorder with cardiac arrhythmia",
            "description": ""
        },
        {
            "id": "DOID:0081008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081008",
            "name": "GNB5-related intellectual disability-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014953",
            "name": "gnb5-related intellectual disability-cardiac arrhythmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014953",
            "name": "IDDCA",
            "description": ""
        },
        {
            "id": "MONDO:0014953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014953",
            "name": "intellectual developmental disorder with cardiac arrhythmia",
            "description": ""
        },
        {
            "id": "MONDO:0014953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014953",
            "name": "intellectual developmental disorder with cardiac arrhythmia; IDDCA",
            "description": ""
        },
        {
            "id": "MIM:617173",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617173",
            "name": "Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia",
            "description": "Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081008",
            "categories": []
        },
        {
            "id": "MONDO:0014953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014953",
            "categories": []
        },
        {
            "id": "MIM:617173",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617173",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L271-1",
            "uniprot_ac": "A1L271",
            "uniprot_id": "GNB5A_DANRE",
            "refseq_ac": "NP_001073650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-5a",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnb5a",
                    "type": "recommended"
                },
                {
                    "name": "gnb5a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158678",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L271-1",
            "evidence": [
                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PBY0-1",
            "uniprot_ac": "Q6PBY0",
            "uniprot_id": "GNB5B_DANRE",
            "refseq_ac": "NP_957040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-5b",
                    "type": "recommended"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5b",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnb5b",
                    "type": "recommended"
                },
                {
                    "name": "gnb5b",
                    "type": "synonym"
                },
                {
                    "name": "gnb5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBY0-1",
            "evidence": [
                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62881-1",
            "uniprot_ac": "P62881",
            "uniprot_id": "GNB5_MOUSE",
            "refseq_ac": "NP_034443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-5",
                    "type": "recommended"
                },
                {
                    "name": "Gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 5",
                    "type": "synonym"
                },
                {
                    "name": "flailer",
                    "type": "synonym"
                },
                {
                    "name": "flail",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, beta 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2e",
                    "type": "synonym"
                },
                {
                    "name": "hug",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb5",
                    "type": "recommended"
                },
                {
                    "name": "GBS",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "Gnb5",
                    "type": "synonym"
                },
                {
                    "name": "Hg2e",
                    "type": "synonym"
                },
                {
                    "name": "flr",
                    "type": "synonym"
                }
            ],
            "record_id": "P62881-1",
            "evidence": [
                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14775-1",
            "uniprot_ac": "O14775",
            "uniprot_id": "GNB5_HUMAN",
            "refseq_ac": "NP_006569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-5",
                    "type": "recommended"
                },
                {
                    "name": "G protein, beta subunit 5L",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein, beta subunit 5L",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2E",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNB5",
                    "type": "recommended"
                },
                {
                    "name": "GB5",
                    "type": "synonym"
                },
                {
                    "name": "GNB5",
                    "type": "synonym"
                },
                {
                    "name": "HG2E",
                    "type": "synonym"
                },
                {
                    "name": "IDDCA",
                    "type": "synonym"
                },
                {
                    "name": "LADCI",
                    "type": "synonym"
                },
                {
                    "name": "LDMLS1",
                    "type": "synonym"
                },
                {
                    "name": "LDMLS2",
                    "type": "synonym"
                },
                {
                    "name": "gbeta5",
                    "type": "synonym"
                }
            ],
            "record_id": "O14775-1",
            "evidence": [
                {
                    "id": "617173",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617173"
                },
                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18851-1",
            "uniprot_ac": "P18851",
            "uniprot_id": "GBB_YEAST",
            "refseq_ac": "NP_014855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "G protein subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE4",
                    "type": "recommended"
                },
                {
                    "name": "HMD2",
                    "type": "synonym"
                },
                {
                    "name": "STE4",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18851-1",
            "evidence": [
                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62882-1",
            "uniprot_ac": "P62882",
            "uniprot_id": "GNB5_RAT",
            "refseq_ac": "NP_113958",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-5",
                    "type": "recommended"
                },
                {
                    "name": "Gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 5",
                    "type": "synonym"
                },
                {
                    "name": "gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, beta 5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein, beta-5 subunit",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb5",
                    "type": "recommended"
                },
                {
                    "name": "Gnb5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3J1-1",
            "uniprot_ac": "Q9W3J1",
            "uniprot_id": "Q9W3J1_DROME",
            "refseq_ac": "NP_572452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10763-PA",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "G-protein beta 5",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta5-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gbeta5",
                    "type": "recommended"
                },
                {
                    "name": "CG10763",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10763",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10763",
                    "type": "synonym"
                },
                {
                    "name": "G-beta-5",
                    "type": "synonym"
                },
                {
                    "name": "GNB5",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta5]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta]]",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta 5",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta5",
                    "type": "synonym"
                },
                {
                    "name": "Gbetagamma",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081008"
}