{
    "disease_id": "DOID:0080154",
    "recommended_name": {
        "id": "DOID:0080154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080154",
        "name": "short chain acyl-CoA dehydrogenase deficiency",
        "description": "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids."
    },
    "synonyms": [
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short chain acyl-CoA dehydrogenase deficiency",
            "description": "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy."
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "ACADS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "SCAD",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "SCAD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "SCADD",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "Short Chain Acyl CoA Dehydrogenase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "acyl-CoA dehydrogenase, short-chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short chain acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short-chain acyl-CoA dehydrogenase deficiency (SCAD)",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "ACADSD",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "acyl-CoA dehydrogenase, short-chain, deficiency OF",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short-chain acyl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "name": "short-chain acyl-coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MIM:201470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201470",
            "name": "Acyl-CoA dehydrogenase short-chain deficiency",
            "description": "Acyl-CoA dehydrogenase short-chain deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080154",
            "categories": []
        },
        {
            "id": "MONDO:0008722",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008722",
            "categories": []
        },
        {
            "id": "MIM:201470",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201470",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q07417-1",
            "uniprot_ac": "Q07417",
            "uniprot_id": "ACADS_MOUSE",
            "refseq_ac": "NP_031409",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.1",
                    "type": "synonym"
                },
                {
                    "name": "Butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "SCAD",
                    "type": "synonym"
                },
                {
                    "name": "butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acads",
                    "type": "recommended"
                },
                {
                    "name": "Acads",
                    "type": "synonym"
                },
                {
                    "name": "Bcd-1",
                    "type": "synonym"
                },
                {
                    "name": "Bcd1",
                    "type": "synonym"
                },
                {
                    "name": "Hdlq8",
                    "type": "synonym"
                },
                {
                    "name": "SCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07417-1",
            "evidence": [
                {
                    "id": "0080154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16219-1",
            "uniprot_ac": "P16219",
            "uniprot_id": "ACADS_HUMAN",
            "refseq_ac": "NP_000008",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.1",
                    "type": "synonym"
                },
                {
                    "name": "Butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "SCAD",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehydrogenase, C-2 to C-3 short chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain",
                    "type": "synonym"
                },
                {
                    "name": "butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial short-chain specific acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "unsaturated acyl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACADS",
                    "type": "recommended"
                },
                {
                    "name": "ACAD3",
                    "type": "synonym"
                },
                {
                    "name": "ACADS",
                    "type": "synonym"
                },
                {
                    "name": "SCAD",
                    "type": "synonym"
                }
            ],
            "record_id": "P16219-1",
            "evidence": [
                {
                    "id": "201470",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201470"
                },
                {
                    "id": "0080154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15651-1",
            "uniprot_ac": "P15651",
            "uniprot_id": "ACADS_RAT",
            "refseq_ac": "NP_071957",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.1",
                    "type": "synonym"
                },
                {
                    "name": "Butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "SCAD",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA dehydrogenase, C-2 to C-3 short chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain",
                    "type": "synonym"
                },
                {
                    "name": "acyl-Coenzyme A dehydrogenase, short chain",
                    "type": "synonym"
                },
                {
                    "name": "butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short chain acyl-coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain acyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acads",
                    "type": "recommended"
                },
                {
                    "name": "Acads",
                    "type": "synonym"
                },
                {
                    "name": "Scad",
                    "type": "synonym"
                }
            ],
            "record_id": "P15651-1",
            "evidence": [
                {
                    "id": "0080154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDT1-1",
            "uniprot_ac": "Q9VDT1",
            "uniprot_id": "Q9VDT1_DROME",
            "refseq_ac": "NP_650840",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.1",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor subunit 42",
                    "type": "synonym"
                },
                {
                    "name": "Arc42-PA",
                    "type": "synonym"
                },
                {
                    "name": "Butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "CG4703-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arc42",
                    "type": "recommended"
                },
                {
                    "name": "Arc42",
                    "type": "synonym"
                },
                {
                    "name": "CG4703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4703",
                    "type": "synonym"
                },
                {
                    "name": "dARC42",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDT1-1",
            "evidence": [
                {
                    "id": "0080154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGC2-1",
            "uniprot_ac": "Q9VGC2",
            "uniprot_id": "Q9VGC2_DROME",
            "refseq_ac": "NP_650163",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short-chain specific acyl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.1",
                    "type": "synonym"
                },
                {
                    "name": "Butyryl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "CG4860-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4860",
                    "type": "recommended"
                },
                {
                    "name": "ACAD11",
                    "type": "synonym"
                },
                {
                    "name": "ACADS",
                    "type": "synonym"
                },
                {
                    "name": "CG4860",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4860",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4860",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGC2-1",
            "evidence": [
                {
                    "id": "0080154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080154"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080154"
}