{
    "disease_id": "DOID:0081159",
    "recommended_name": {
        "id": "DOID:0081159",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081159",
        "name": "dilated cardiomyopathy 2C",
        "description": "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0032592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032592",
            "name": "cardiomyopathy, dilated, 2c",
            "description": "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34."
        },
        {
            "id": "MONDO:0032592",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032592",
            "name": "CMD2C",
            "description": ""
        },
        {
            "id": "MIM:618189",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618189",
            "name": "Cardiomyopathy, dilated, 2C",
            "description": "Cardiomyopathy, dilated, 2C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081159"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081159",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081159",
            "categories": []
        },
        {
            "id": "MONDO:0032592",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032592",
            "categories": []
        },
        {
            "id": "MIM:618189",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618189",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VDG5-1",
            "uniprot_ac": "Q8VDG5",
            "uniprot_id": "PPCS_MOUSE",
            "refseq_ac": "NP_080770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphopantothenate--cysteine ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.51",
                    "type": "synonym"
                },
                {
                    "name": "PPC synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphopantothenoylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppcs",
                    "type": "recommended"
                },
                {
                    "name": "6330579B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coab",
                    "type": "synonym"
                },
                {
                    "name": "Ppcs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDG5-1",
            "evidence": [
                {
                    "id": "0081159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HAB8-1",
            "uniprot_ac": "Q9HAB8",
            "uniprot_id": "PPCS_HUMAN",
            "refseq_ac": "NP_001070915",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphopantothenate--cysteine ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.51",
                    "type": "synonym"
                },
                {
                    "name": "PPC synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphopantothenoylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPCS",
                    "type": "recommended"
                },
                {
                    "name": "CMD2C",
                    "type": "synonym"
                },
                {
                    "name": "COAB",
                    "type": "synonym"
                },
                {
                    "name": "PPCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HAB8-1",
            "evidence": [
                {
                    "id": "618189",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618189"
                },
                {
                    "id": "0081159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40506-1",
            "uniprot_ac": "P40506",
            "uniprot_id": "PPCS_YEAST",
            "refseq_ac": "NP_012183",
            "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": "Phosphopantothenate--cysteine ligase CAB2",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.5",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme A biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PPC synthetase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphopantothenoylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase CAB2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAB2",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P40506-1",
            "evidence": [
                {
                    "id": "0081159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6X7-1",
            "uniprot_ac": "D4A6X7",
            "uniprot_id": "D4A6X7_RAT",
            "refseq_ac": "NP_001034099",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphopantothenate--cysteine ligase",
                    "type": "recommended"
                },
                {
                    "name": "6.3.2.51",
                    "type": "synonym"
                },
                {
                    "name": "Phosphopantothenoylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenate--cysteine ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppcs",
                    "type": "recommended"
                },
                {
                    "name": "Ppcs",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311399",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6X7-1",
            "evidence": [
                {
                    "id": "0081159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E2QD26-1",
            "uniprot_ac": "E2QD26",
            "uniprot_id": "E2QD26_DROME",
            "refseq_ac": "NP_650784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "4'-phosphopantothenoylcysteine synthetase",
                    "type": "synonym"
                },
                {
                    "name": "6.3.2.5",
                    "type": "synonym"
                },
                {
                    "name": "CG5629-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phosphopantothenoylcysteine synthetase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Ppcs-PC",
                    "type": "synonym"
                },
                {
                    "name": "phosphopantothenoylcysteine synthetase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppcs",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH03502",
                    "type": "synonym"
                },
                {
                    "name": "CG5629",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5629",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5629",
                    "type": "synonym"
                },
                {
                    "name": "GH03502",
                    "type": "synonym"
                },
                {
                    "name": "PPCS",
                    "type": "synonym"
                },
                {
                    "name": "Ppcs",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.401",
                    "type": "synonym"
                },
                {
                    "name": "dPPCS",
                    "type": "synonym"
                }
            ],
            "record_id": "E2QD26-1",
            "evidence": [
                {
                    "id": "0081159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081159"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081159"
}