{
    "disease_id": "DOID:0061259",
    "recommended_name": {
        "id": "DOID:0061259",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061259",
        "name": "congenital myopathy 28",
        "description": "A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12."
    },
    "synonyms": [
        {
            "id": "DOID:0061259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061259",
            "name": "congenital myopathy 28 with rigid spine",
            "description": ""
        },
        {
            "id": "MONDO:0980756",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980756",
            "name": "congenital myopathy 28 with rigid spine",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061259",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061259",
            "categories": []
        },
        {
            "id": "MONDO:0980756",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980756",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q01581-1",
            "uniprot_ac": "Q01581",
            "uniprot_id": "HMCS1_HUMAN",
            "refseq_ac": "NP_001091742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A synthase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, cytoplasmic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCS1",
                    "type": "recommended"
                },
                {
                    "name": "CMYO28",
                    "type": "synonym"
                },
                {
                    "name": "HMGCS1",
                    "type": "synonym"
                },
                {
                    "name": "HMGCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01581-1",
            "evidence": [
                {
                    "id": "621433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061259"
}