{
    "disease_id": "DOID:0061130",
    "recommended_name": {
        "id": "DOID:0061130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061130",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 28",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061130",
            "name": "LGMDR28",
            "description": ""
        },
        {
            "id": "DOID:0061130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061130",
            "name": "Limb-girdle, type 28R",
            "description": ""
        },
        {
            "id": "MONDO:0957270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957270",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 28",
            "description": ""
        },
        {
            "id": "MIM:620375",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620375",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 28",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061130",
            "categories": []
        },
        {
            "id": "MONDO:0957270",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957270",
            "categories": []
        },
        {
            "id": "MIM:620375",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620375",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JJD6-1",
            "uniprot_ac": "A0AC58JJD6",
            "uniprot_id": "A0AC58JJD6_DANRE",
            "refseq_ac": "XP_073806595",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA reductase a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hmgcra",
                    "type": "recommended"
                },
                {
                    "name": "hmgcr1a",
                    "type": "synonym"
                },
                {
                    "name": "hmgcr1",
                    "type": "synonym"
                },
                {
                    "name": "hmgcra",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-129a6.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136576",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JJD6-1",
            "evidence": [
                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I8Q9-1",
            "uniprot_ac": "A0AC58I8Q9",
            "uniprot_id": "A0AC58I8Q9_DANRE",
            "refseq_ac": "XP_073790614",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA reductase b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hmgcrb",
                    "type": "recommended"
                },
                {
                    "name": "hmgcr2",
                    "type": "synonym"
                },
                {
                    "name": "hmgcrb",
                    "type": "synonym"
                },
                {
                    "name": "im:6912716",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110746",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I8Q9-1",
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                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01237-1",
            "uniprot_ac": "Q01237",
            "uniprot_id": "HMDH_MOUSE",
            "refseq_ac": "NP_032281",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcr",
                    "type": "recommended"
                },
                {
                    "name": "HMG-CoAR",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcr",
                    "type": "synonym"
                },
                {
                    "name": "Red",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01237-1",
            "evidence": [
                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04035-1",
            "uniprot_ac": "P04035",
            "uniprot_id": "HMDH_HUMAN",
            "refseq_ac": "NP_000850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCR",
                    "type": "recommended"
                },
                {
                    "name": "HMGCR",
                    "type": "synonym"
                },
                {
                    "name": "LDLCQ3",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR28",
                    "type": "synonym"
                },
                {
                    "name": "MYPLG",
                    "type": "synonym"
                }
            ],
            "record_id": "P04035-1",
            "evidence": [
                {
                    "id": "620375",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620375"
                },
                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12684-1",
            "uniprot_ac": "P12684",
            "uniprot_id": "HMDH2_YEAST",
            "refseq_ac": "NP_013555",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA reductase (NADPH) HMG2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMG2",
                    "type": "recommended"
                },
                {
                    "name": "HMG2",
                    "type": "synonym"
                },
                {
                    "name": "L9324.2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12684-1",
            "evidence": [
                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12683-1",
            "uniprot_ac": "P12683",
            "uniprot_id": "HMDH1_YEAST",
            "refseq_ac": "NP_013636",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase 1",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA reductase (NADPH) HMG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMG1",
                    "type": "recommended"
                },
                {
                    "name": "HMG1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51639-1",
            "uniprot_ac": "P51639",
            "uniprot_id": "HMDH_RAT",
            "refseq_ac": "NP_037266",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcr",
                    "type": "recommended"
                },
                {
                    "name": "3H3M",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcr",
                    "type": "synonym"
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            ],
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                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
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            ]
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            "uniprot_canonical_ac": "P14773-1",
            "uniprot_ac": "P14773",
            "uniprot_id": "HMDH_DROME",
            "refseq_ac": "NP_732900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-Hydroxy-3-Methylglutaryl CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A reductase",
                    "type": "synonym"
                },
                {
                    "name": "CG10367-PA",
                    "type": "synonym"
                },
                {
                    "name": "HMG coenzyme A reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase class I",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMGCo-A reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMGCoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "Hmg-CoA-reductase",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcr-PA",
                    "type": "synonym"
                },
                {
                    "name": "columbus",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 04684",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcr",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD15354",
                    "type": "synonym"
                },
                {
                    "name": "CG10367",
                    "type": "synonym"
                },
                {
                    "name": "Clb",
                    "type": "synonym"
                },
                {
                    "name": "DmHMG-CoAr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10367",
                    "type": "synonym"
                },
                {
                    "name": "HMGCR_Dm",
                    "type": "synonym"
                },
                {
                    "name": "HMGCR",
                    "type": "synonym"
                },
                {
                    "name": "HMGCoARr",
                    "type": "synonym"
                },
                {
                    "name": "HMGCoAR",
                    "type": "synonym"
                },
                {
                    "name": "HMGCoAr",
                    "type": "synonym"
                },
                {
                    "name": "HMGR",
                    "type": "synonym"
                },
                {
                    "name": "HmG-CoAR",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcr",
                    "type": "synonym"
                },
                {
                    "name": "Hmg",
                    "type": "synonym"
                },
                {
                    "name": "bro1",
                    "type": "synonym"
                },
                {
                    "name": "bs32f05.y1",
                    "type": "synonym"
                },
                {
                    "name": "clb",
                    "type": "synonym"
                },
                {
                    "name": "hmgcr",
                    "type": "synonym"
                },
                {
                    "name": "hmgc",
                    "type": "synonym"
                },
                {
                    "name": "hmgrc",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01152",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04684",
                    "type": "synonym"
                }
            ],
            "record_id": "P14773-1",
            "evidence": [
                {
                    "id": "0061130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061130"
}