{
    "disease_id": "DOID:0111263",
    "recommended_name": {
        "id": "DOID:0111263",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111263",
        "name": "combined malonic and methylmalonic acidemia",
        "description": "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111263",
            "name": "CMAMMA",
            "description": ""
        },
        {
            "id": "DOID:0111263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111263",
            "name": "combined malonic and methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0013661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013661",
            "name": "combined malonic and methylmalonic acidemia",
            "description": "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline."
        },
        {
            "id": "MONDO:0013661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013661",
            "name": "CMAMMA",
            "description": ""
        },
        {
            "id": "MONDO:0013661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013661",
            "name": "combined malonic and methylmalonic acidemia",
            "description": ""
        },
        {
            "id": "MONDO:0013661",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013661",
            "name": "combined malonic and methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MIM:614265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614265",
            "name": "Combined malonic and methylmalonic aciduria",
            "description": "Combined malonic and methylmalonic aciduria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111263"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111263",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111263",
            "categories": []
        },
        {
            "id": "MONDO:0013661",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013661",
            "categories": []
        },
        {
            "id": "MIM:614265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QFY7-1",
            "uniprot_ac": "A0A2R8QFY7",
            "uniprot_id": "A0A2R8QFY7_DANRE",
            "refseq_ac": "XP_690782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acsf3",
                    "type": "recommended"
                },
                {
                    "name": "acsf3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QFY7-1",
            "evidence": [
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3URE1-1",
            "uniprot_ac": "Q3URE1",
            "uniprot_id": "ACSF3_MOUSE",
            "refseq_ac": "NP_659181",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA synthetase family member 3",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA synthetase family member 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "malonate--CoA ligase ACSF3, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acsf3",
                    "type": "recommended"
                },
                {
                    "name": "Acsf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3URE1-1",
            "evidence": [
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G176-1",
            "uniprot_ac": "Q4G176",
            "uniprot_id": "ACSF3_HUMAN",
            "refseq_ac": "NP_001120686",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA synthetase family member 3",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA synthetase family member 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "malonate--CoA ligase ACSF3, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "malonyl-CoA synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACSF3",
                    "type": "recommended"
                },
                {
                    "name": "ACSF3",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0197",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G176-1",
            "evidence": [
                {
                    "id": "614265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614265"
                },
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38137-1",
            "uniprot_ac": "P38137",
            "uniprot_id": "FAT2_YEAST",
            "refseq_ac": "NP_009781",
            "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": "Oxalate--CoA ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-activating enzyme 3",
                    "type": "synonym"
                },
                {
                    "name": "Oxalyl-CoA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Pcs60p",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal-coenzyme A synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCS60",
                    "type": "recommended"
                },
                {
                    "name": "AAE3",
                    "type": "synonym"
                },
                {
                    "name": "FAT2",
                    "type": "synonym"
                },
                {
                    "name": "PCS60",
                    "type": "synonym"
                },
                {
                    "name": "YBR1512",
                    "type": "synonym"
                }
            ],
            "record_id": "P38137-1",
            "evidence": [
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUX7-1",
            "uniprot_ac": "D3ZUX7",
            "uniprot_id": "D3ZUX7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Malonate--CoA ligase ACSF3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA synthetase family member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acsf3",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUX7-1",
            "evidence": [
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVU5-1",
            "uniprot_ac": "Q7KVU5",
            "uniprot_id": "Q7KVU5_DROME",
            "refseq_ac": "NP_996360",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "6.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Acsf3-PB",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA synthetase family member 3",
                    "type": "synonym"
                },
                {
                    "name": "CG18155-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acsf3",
                    "type": "recommended"
                },
                {
                    "name": "ACSF3",
                    "type": "synonym"
                },
                {
                    "name": "Acsf3",
                    "type": "synonym"
                },
                {
                    "name": "CG18155",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18155",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18155",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0029945",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVU5-1",
            "evidence": [
                {
                    "id": "0111263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111263"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111263"
}