{
    "disease_id": "DOID:0070541",
    "recommended_name": {
        "id": "DOID:0070541",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070541",
        "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
        "description": "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMG-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMGCL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "HMGCLD",
            "description": ""
        },
        {
            "id": "DOID:0070541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "name": "hydroxymethylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaric aciduria",
            "description": "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae."
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-OH 3-Methyl glutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMG-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "Hydroxymethylglutaric aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "deficiency of hydroxymethylglutaryl-CoA lyase",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "hydroxymethylglutaryl-CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMG CoA lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "HMGCLD",
            "description": ""
        },
        {
            "id": "MONDO:0009520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "name": "defect in leucine metabolism",
            "description": ""
        },
        {
            "id": "MIM:246450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246450",
            "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency",
            "description": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070541"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070541",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070541",
            "categories": []
        },
        {
            "id": "MONDO:0009520",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009520",
            "categories": []
        },
        {
            "id": "MIM:246450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P38060-1",
            "uniprot_ac": "P38060",
            "uniprot_id": "HMGCL_MOUSE",
            "refseq_ac": "NP_032280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxy-3-methylglutarate-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "HL",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcl",
                    "type": "recommended"
                },
                {
                    "name": "HL",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcl",
                    "type": "synonym"
                }
            ],
            "record_id": "P38060-1",
            "evidence": [
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35914-1",
            "uniprot_ac": "P35914",
            "uniprot_id": "HMGCL_HUMAN",
            "refseq_ac": "NP_000182",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxy-3-methylglutarate-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "HL",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaricaciduria",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCL",
                    "type": "recommended"
                },
                {
                    "name": "HL",
                    "type": "synonym"
                },
                {
                    "name": "HMGCL1",
                    "type": "synonym"
                },
                {
                    "name": "HMGCL",
                    "type": "synonym"
                }
            ],
            "record_id": "P35914-1",
            "evidence": [
                {
                    "id": "246450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246450"
                },
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12122-1",
            "uniprot_ac": "Q12122",
            "uniprot_id": "HOSM_YEAST",
            "refseq_ac": "NP_010151",
            "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": "Homocitrate synthase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.14",
                    "type": "synonym"
                },
                {
                    "name": "HCS",
                    "type": "synonym"
                },
                {
                    "name": "homocitrate synthase LYS21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LYS21",
                    "type": "recommended"
                },
                {
                    "name": "D2195",
                    "type": "synonym"
                },
                {
                    "name": "LYS21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12122-1",
            "evidence": [
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48570-1",
            "uniprot_ac": "P48570",
            "uniprot_id": "HOSC_YEAST",
            "refseq_ac": "NP_010099",
            "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": "Homocitrate synthase, cytosolic isozyme",
                    "type": "recommended"
                },
                {
                    "name": "2.3.3.14",
                    "type": "synonym"
                },
                {
                    "name": "HCS",
                    "type": "synonym"
                },
                {
                    "name": "homocitrate synthase LYS20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LYS20",
                    "type": "recommended"
                },
                {
                    "name": "D1298",
                    "type": "synonym"
                },
                {
                    "name": "LYS20",
                    "type": "synonym"
                }
            ],
            "record_id": "P48570-1",
            "evidence": [
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97519-1",
            "uniprot_ac": "P97519",
            "uniprot_id": "HMGCL_RAT",
            "refseq_ac": "NP_077362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3-hydroxy-3-methylglutarate-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A lyase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "HL",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA lyase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA lyase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcl",
                    "type": "recommended"
                },
                {
                    "name": "Hmgcl",
                    "type": "synonym"
                }
            ],
            "record_id": "P97519-1",
            "evidence": [
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM58-1",
            "uniprot_ac": "Q9VM58",
            "uniprot_id": "Q9VM58_DROME",
            "refseq_ac": "NP_001285696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "hydroxymethylglutaryl-CoA lyase",
                    "type": "recommended"
                },
                {
                    "name": "3-Hydroxymethyl-3-methylglutaryl-CoA lyase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "4.1.3.4",
                    "type": "synonym"
                },
                {
                    "name": "CG10399-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcl-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmgcl",
                    "type": "recommended"
                },
                {
                    "name": "145934_at",
                    "type": "synonym"
                },
                {
                    "name": "CG10399",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10399",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10399",
                    "type": "synonym"
                },
                {
                    "name": "HMGCL",
                    "type": "synonym"
                },
                {
                    "name": "Hmgcl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM58-1",
            "evidence": [
                {
                    "id": "0070541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070541"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070541"
}