{
    "disease_id": "DOID:0110312",
    "recommended_name": {
        "id": "DOID:0110312",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110312",
        "name": "hypertrophic cardiomyopathy 6",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110312",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110312",
            "name": "CMH6",
            "description": ""
        },
        {
            "id": "DOID:0110312",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110312",
            "name": "cardiomyopathy, familial hypertrophic 6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "hypertrophic cardiomyopathy 6",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene."
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "CMH6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "PRKAG2 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "cardiomyopathy, familial hypertrophic, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "cardiomyopathy, hypertrophic 6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "hypertrophic cardiomyopathy 6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "hypertrophic cardiomyopathy caused by mutation in PRKAG2",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "hypertrophic cardiomyopathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "name": "cardiomyopathy, familial hypertrophic, 6",
            "description": ""
        },
        {
            "id": "MIM:600858",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600858",
            "name": "Cardiomyopathy, familial hypertrophic, 6",
            "description": "Cardiomyopathy, familial hypertrophic, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110312"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110312",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110312",
            "categories": []
        },
        {
            "id": "MONDO:0010946",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010946",
            "categories": []
        },
        {
            "id": "MIM:600858",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600858",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PG44-1",
            "uniprot_ac": "A0A8M9PG44",
            "uniprot_id": "A0A8M9PG44_DANRE",
            "refseq_ac": "XP_021325888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkag2a",
                    "type": "recommended"
                },
                {
                    "name": "prkag2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153329",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PG44-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QRT4-1",
            "uniprot_ac": "F1QRT4",
            "uniprot_id": "F1QRT4_DANRE",
            "refseq_ac": "XP_696730",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkag2b",
                    "type": "recommended"
                },
                {
                    "name": "prkag2b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QRT4-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WG5-1",
            "uniprot_ac": "Q91WG5",
            "uniprot_id": "AAKG2_MOUSE",
            "refseq_ac": "NP_001164027",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "AMPK gamma-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "AMPK gamma2",
                    "type": "synonym"
                },
                {
                    "name": "AMPK subunit gamma-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkag2",
                    "type": "recommended"
                },
                {
                    "name": "2410051C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "AAKG2",
                    "type": "synonym"
                },
                {
                    "name": "AAKG",
                    "type": "synonym"
                },
                {
                    "name": "H91620p",
                    "type": "synonym"
                },
                {
                    "name": "Prkag2",
                    "type": "synonym"
                },
                {
                    "name": "WPWS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WG5-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UGJ0-1",
            "uniprot_ac": "Q9UGJ0",
            "uniprot_id": "AAKG2_HUMAN",
            "refseq_ac": "NP_001035723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "AMPK gamma2",
                    "type": "synonym"
                },
                {
                    "name": "AMPK subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "H91620p",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, AMP-activated, gamma 2 non-catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKAG2",
                    "type": "recommended"
                },
                {
                    "name": "AAKG2",
                    "type": "synonym"
                },
                {
                    "name": "AAKG",
                    "type": "synonym"
                },
                {
                    "name": "CMH6",
                    "type": "synonym"
                },
                {
                    "name": "GSDH",
                    "type": "synonym"
                },
                {
                    "name": "H91620p",
                    "type": "synonym"
                },
                {
                    "name": "PRKAG2",
                    "type": "synonym"
                },
                {
                    "name": "WPWS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UGJ0-1",
            "evidence": [
                {
                    "id": "600858",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600858"
                },
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12904-1",
            "uniprot_ac": "P12904",
            "uniprot_id": "AAKG_YEAST",
            "refseq_ac": "NP_011400",
            "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": "5'-AMP-activated protein kinase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "AMP-activated serine/threonine-protein kinase regulatory subunit SNF4",
                    "type": "synonym"
                },
                {
                    "name": "AMPK gamma",
                    "type": "synonym"
                },
                {
                    "name": "AMPK subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory protein CAT3",
                    "type": "synonym"
                },
                {
                    "name": "Sucrose non-fermenting protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNF4",
                    "type": "recommended"
                },
                {
                    "name": "CAT3",
                    "type": "synonym"
                },
                {
                    "name": "SCI1",
                    "type": "synonym"
                },
                {
                    "name": "SNF4",
                    "type": "synonym"
                }
            ],
            "record_id": "P12904-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A140UHX4-1",
            "uniprot_ac": "A0A140UHX4",
            "uniprot_id": "A0A140UHX4_RAT",
            "refseq_ac": "XP_006236013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-AMP-activated protein kinase subunit gamma-2 isoform X5",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase AMP-activated non-catalytic subunit gamma 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkag2",
                    "type": "recommended"
                },
                {
                    "name": "Prkag2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A140UHX4-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDD2-1",
            "uniprot_ac": "Q9VDD2",
            "uniprot_id": "Q9VDD2_DROME",
            "refseq_ac": "NP_001163671",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMP-activated protein kinase gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG17299-PR",
                    "type": "synonym"
                },
                {
                    "name": "SNF4/AMP-activated protein kinase gamma subunit, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "SNF4/AMP-activated protein kinase gamma subunit, isoform R",
                    "type": "synonym"
                },
                {
                    "name": "SNF4/AMP-activated protein kinase gamma subunit, isoform S",
                    "type": "synonym"
                },
                {
                    "name": "SNF4/AMP-activated protein kinase gamma",
                    "type": "synonym"
                },
                {
                    "name": "SNF4Agamma-PR",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S005042",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S012719",
                    "type": "synonym"
                },
                {
                    "name": "lochrig",
                    "type": "synonym"
                },
                {
                    "name": "loechrig",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNF4Agamma",
                    "type": "recommended"
                },
                {
                    "name": "0050/42",
                    "type": "synonym"
                },
                {
                    "name": "0127/19",
                    "type": "synonym"
                },
                {
                    "name": "19",
                    "type": "synonym"
                },
                {
                    "name": "42",
                    "type": "synonym"
                },
                {
                    "name": "AMPK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "AMPKgamma",
                    "type": "synonym"
                },
                {
                    "name": "AMPK",
                    "type": "synonym"
                },
                {
                    "name": "AMPgamma",
                    "type": "synonym"
                },
                {
                    "name": "CG17299",
                    "type": "synonym"
                },
                {
                    "name": "CG5806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17299",
                    "type": "synonym"
                },
                {
                    "name": "EP3015b",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0025803",
                    "type": "synonym"
                },
                {
                    "name": "SNF4A-gamma",
                    "type": "synonym"
                },
                {
                    "name": "SNF4Agamma",
                    "type": "synonym"
                },
                {
                    "name": "SNF4Ag",
                    "type": "synonym"
                },
                {
                    "name": "SNF4A",
                    "type": "synonym"
                },
                {
                    "name": "SNF4a",
                    "type": "synonym"
                },
                {
                    "name": "SNF4gamma",
                    "type": "synonym"
                },
                {
                    "name": "SNF4",
                    "type": "synonym"
                },
                {
                    "name": "Snfgamma",
                    "type": "synonym"
                },
                {
                    "name": "Snfg",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.338",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.575",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0257455.21",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S005042",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S012719",
                    "type": "synonym"
                },
                {
                    "name": "loeI",
                    "type": "synonym"
                },
                {
                    "name": "loe",
                    "type": "synonym"
                },
                {
                    "name": "snf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDD2-1",
            "evidence": [
                {
                    "id": "0110312",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110312"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110312"
}