{
    "disease_id": "DOID:0080153",
    "recommended_name": {
        "id": "DOID:0080153",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080153",
        "name": "medium chain acyl-CoA dehydrogenase deficiency",
        "description": "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."
    },
    "synonyms": [
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium chain acyl-CoA dehydrogenase deficiency",
            "description": "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention."
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "ACADM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "Acyl-CoA dehydrogenase, medium chain, deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "MCAD",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "MCAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "MCADD",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "acyl-CoA dehydrogenase, medium-chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium chain acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium chain acyl-coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium-chain acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium-chain acyl-Coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "ACADMD",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "acyl-CoA dehydrogenase medium chain deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "acyl-CoA dehydrogenase, medium-chain, deficiency OF",
            "description": ""
        },
        {
            "id": "MONDO:0008721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "name": "medium chain acyl CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:201450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201450",
            "name": "Acyl-CoA dehydrogenase medium-chain deficiency",
            "description": "Acyl-CoA dehydrogenase medium-chain deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080153"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080153",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080153",
            "categories": []
        },
        {
            "id": "MONDO:0008721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008721",
            "categories": []
        },
        {
            "id": "MIM:201450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2CG95-1",
            "uniprot_ac": "A2CG95",
            "uniprot_id": "A2CG95_DANRE",
            "refseq_ac": "NP_998175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.7",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acadm",
                    "type": "recommended"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "acadm",
                    "type": "synonym"
                },
                {
                    "name": "fb53e01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb53e01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111905",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56101",
                    "type": "synonym"
                },
                {
                    "name": "zgc:76911",
                    "type": "synonym"
                }
            ],
            "record_id": "A2CG95-1",
            "evidence": [
                {
                    "id": "0080153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45952-1",
            "uniprot_ac": "P45952",
            "uniprot_id": "ACADM_MOUSE",
            "refseq_ac": "NP_031408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.7",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acadm",
                    "type": "recommended"
                },
                {
                    "name": "Acadm",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "P45952-1",
            "evidence": [
                {
                    "id": "0080153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11310-1",
            "uniprot_ac": "P11310",
            "uniprot_id": "ACADM_HUMAN",
            "refseq_ac": "NP_000007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.7",
                    "type": "synonym"
                },
                {
                    "name": "MCADH",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "Medium chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACADM",
                    "type": "recommended"
                },
                {
                    "name": "ACAD1",
                    "type": "synonym"
                },
                {
                    "name": "ACADM",
                    "type": "synonym"
                },
                {
                    "name": "MCADH",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "P11310-1",
            "evidence": [
                {
                    "id": "201450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201450"
                },
                {
                    "id": "0080153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08503-1",
            "uniprot_ac": "P08503",
            "uniprot_id": "ACADM_RAT",
            "refseq_ac": "NP_058682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.7",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight-chain",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, medium chain",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acadm",
                    "type": "recommended"
                },
                {
                    "name": "Acadm",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "P08503-1",
            "evidence": [
                {
                    "id": "0080153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSA3-1",
            "uniprot_ac": "Q9VSA3",
            "uniprot_id": "ACADM_DROME",
            "refseq_ac": "NP_648149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.7",
                    "type": "synonym"
                },
                {
                    "name": "CG12262-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mcad-PA",
                    "type": "synonym"
                },
                {
                    "name": "Medium-chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehdrogenase",
                    "type": "synonym"
                },
                {
                    "name": "medium chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "medium-chain acyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "probable medium-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcad",
                    "type": "recommended"
                },
                {
                    "name": "ACAD",
                    "type": "synonym"
                },
                {
                    "name": "CG 12262",
                    "type": "synonym"
                },
                {
                    "name": "CG12262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12262",
                    "type": "synonym"
                },
                {
                    "name": "MCAD",
                    "type": "synonym"
                },
                {
                    "name": "Mcad",
                    "type": "synonym"
                },
                {
                    "name": "mcad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSA3-1",
            "evidence": [
                {
                    "id": "0080153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080153"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080153"
}