{
    "disease_id": "DOID:0080478",
    "recommended_name": {
        "id": "DOID:0080478",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080478",
        "name": "peroxisome biogenesis disorder 3A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17."
    },
    "synonyms": [
        {
            "id": "DOID:0080478",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080478",
            "name": "peroxisome biogenesis disorder 3A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013927",
            "name": "peroxisome biogenesis disorder 3A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013927",
            "name": "peroxisome biogenesis disorder 3A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013927",
            "name": "PBD3A",
            "description": ""
        },
        {
            "id": "MIM:614859",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614859",
            "name": "Peroxisome biogenesis disorder 3A",
            "description": "Peroxisome biogenesis disorder 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080478"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080478",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080478",
            "categories": []
        },
        {
            "id": "MONDO:0013927",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013927",
            "categories": []
        },
        {
            "id": "MIM:614859",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614859",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R157-1",
            "uniprot_ac": "B0R157",
            "uniprot_id": "B0R157_DANRE",
            "refseq_ac": "NP_956499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pex12",
                    "type": "recommended"
                },
                {
                    "name": "pex12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56182",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R157-1",
            "evidence": [
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VC48-1",
            "uniprot_ac": "Q8VC48",
            "uniprot_id": "PEX12_MOUSE",
            "refseq_ac": "NP_598786",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex12",
                    "type": "recommended"
                },
                {
                    "name": "Pex12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VC48-1",
            "evidence": [
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00623-1",
            "uniprot_ac": "O00623",
            "uniprot_id": "PEX12_HUMAN",
            "refseq_ac": "NP_000277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "PAF-3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 12",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX12",
                    "type": "recommended"
                },
                {
                    "name": "PAF-3",
                    "type": "synonym"
                },
                {
                    "name": "PAF3",
                    "type": "synonym"
                },
                {
                    "name": "PBD3A",
                    "type": "synonym"
                },
                {
                    "name": "PEX12",
                    "type": "synonym"
                }
            ],
            "record_id": "O00623-1",
            "evidence": [
                {
                    "id": "614859",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614859"
                },
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04370-1",
            "uniprot_ac": "Q04370",
            "uniprot_id": "PEX12_YEAST",
            "refseq_ac": "NP_013739",
            "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": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase peroxin 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX12",
                    "type": "recommended"
                },
                {
                    "name": "PAS11",
                    "type": "synonym"
                },
                {
                    "name": "PEX12",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.16C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04370-1",
            "evidence": [
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88177-1",
            "uniprot_ac": "O88177",
            "uniprot_id": "PEX12_RAT",
            "refseq_ac": "NP_446373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "PAF-3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 12-like",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex12",
                    "type": "recommended"
                },
                {
                    "name": "Paf3",
                    "type": "synonym"
                },
                {
                    "name": "Pex12",
                    "type": "synonym"
                }
            ],
            "record_id": "O88177-1",
            "evidence": [
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPT5-1",
            "uniprot_ac": "Q9VPT5",
            "uniprot_id": "PEX12_DROME",
            "refseq_ac": "NP_001259844",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 12",
                    "type": "recommended"
                },
                {
                    "name": "CG3639-PB",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-12",
                    "type": "synonym"
                },
                {
                    "name": "Pex12-PB",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 12, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex12",
                    "type": "recommended"
                },
                {
                    "name": "CG3639",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex12",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3639",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3639",
                    "type": "synonym"
                },
                {
                    "name": "PEX12",
                    "type": "synonym"
                },
                {
                    "name": "Pex12",
                    "type": "synonym"
                },
                {
                    "name": "pex12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPT5-1",
            "evidence": [
                {
                    "id": "0080478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080478"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080478"
}