{
    "disease_id": "DOID:0081168",
    "recommended_name": {
        "id": "DOID:0081168",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081168",
        "name": "HMG-CoA synthase 2 deficiency",
        "description": "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12."
    },
    "synonyms": [
        {
            "id": "DOID:0081168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081168",
            "name": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency",
            "description": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death."
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "HMG-CoA synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "HMG-CoA synthase-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "HMG CoA synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "name": "HMGCS2D",
            "description": ""
        },
        {
            "id": "MIM:605911",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605911",
            "name": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency",
            "description": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081168"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081168",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081168",
            "categories": []
        },
        {
            "id": "MONDO:0011614",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011614",
            "categories": []
        },
        {
            "id": "MIM:605911",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605911",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PIL7-1",
            "uniprot_ac": "A0A8M1PIL7",
            "uniprot_id": "HMCS1_DANRE",
            "refseq_ac": "NP_957379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hmgcs1",
                    "type": "recommended"
                },
                {
                    "name": "hmgcs1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56481",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PIL7-1",
            "evidence": [
                {
                    "id": "0081168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54869-1",
            "uniprot_ac": "P54869",
            "uniprot_id": "HMCS2_MOUSE",
            "refseq_ac": "NP_032282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA synthase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A synthase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcs2",
                    "type": "recommended"
                },
                {
                    "name": "1300002P16",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcs2",
                    "type": "synonym"
                },
                {
                    "name": "mHS",
                    "type": "synonym"
                }
            ],
            "record_id": "P54869-1",
            "evidence": [
                {
                    "id": "0081168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54868-1",
            "uniprot_ac": "P54868",
            "uniprot_id": "HMCS2_HUMAN",
            "refseq_ac": "NP_001159579",
            "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, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A synthase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 88",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCS2",
                    "type": "recommended"
                },
                {
                    "name": "HMGCS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54868-1",
            "evidence": [
                {
                    "id": "605911",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605911"
                },
                {
                    "id": "0081168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54839-1",
            "uniprot_ac": "P54839",
            "uniprot_id": "ERG13_YEAST",
            "refseq_ac": "NP_013580",
            "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": "Hydroxymethylglutaryl-CoA synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A synthase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERG13",
                    "type": "recommended"
                },
                {
                    "name": "ERG13",
                    "type": "synonym"
                },
                {
                    "name": "HMGS",
                    "type": "synonym"
                },
                {
                    "name": "YM4987.09C",
                    "type": "synonym"
                }
            ],
            "record_id": "P54839-1",
            "evidence": [
                {
                    "id": "0081168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22791-1",
            "uniprot_ac": "P22791",
            "uniprot_id": "HMCS2_RAT",
            "refseq_ac": "NP_775117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA synthase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.10",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutary-Coenzyme A synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl coenzyme A synthase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA synthase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcs2",
                    "type": "recommended"
                },
                {
                    "name": "Hmgcs1",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcs2",
                    "type": "synonym"
                },
                {
                    "name": "Mt3h3mg",
                    "type": "synonym"
                }
            ],
            "record_id": "P22791-1",
            "evidence": [
                {
                    "id": "0081168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081168"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081168"
}