{
    "disease_id": "DOID:0080476",
    "recommended_name": {
        "id": "DOID:0080476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080476",
        "name": "peroxisome biogenesis disorder 1A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080476",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "peroxisome biogenesis disorder 1A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0008953",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "name": "PBD1A",
            "description": ""
        },
        {
            "id": "MIM:214100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/214100",
            "name": "Peroxisome biogenesis disorder 1A",
            "description": "Peroxisome biogenesis disorder 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080476"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080476",
            "categories": []
        },
        {
            "id": "MONDO:0008953",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008953",
            "categories": []
        },
        {
            "id": "MIM:214100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/214100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5BL07-1",
            "uniprot_ac": "Q5BL07",
            "uniprot_id": "PEX1_MOUSE",
            "refseq_ac": "NP_001280735",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome biogenesis factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex1",
                    "type": "recommended"
                },
                {
                    "name": "5430414H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "E330005K07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pex1",
                    "type": "synonym"
                },
                {
                    "name": "ZWS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BL07-1",
            "evidence": [
                {
                    "id": "0080476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43933-1",
            "uniprot_ac": "O43933",
            "uniprot_id": "PEX1_HUMAN",
            "refseq_ac": "NP_000457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome biogenesis disorder protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome biogenesis factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Zellweger syndrome",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis disorder protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX1",
                    "type": "recommended"
                },
                {
                    "name": "HMLR1",
                    "type": "synonym"
                },
                {
                    "name": "PBD1A",
                    "type": "synonym"
                },
                {
                    "name": "PBD1B",
                    "type": "synonym"
                },
                {
                    "name": "PEX1",
                    "type": "synonym"
                },
                {
                    "name": "ZWS1",
                    "type": "synonym"
                },
                {
                    "name": "ZWS",
                    "type": "synonym"
                }
            ],
            "record_id": "O43933-1",
            "evidence": [
                {
                    "id": "214100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/214100"
                },
                {
                    "id": "0080476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24004-1",
            "uniprot_ac": "P24004",
            "uniprot_id": "PEX1_YEAST",
            "refseq_ac": "NP_012724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "AAA family ATPase peroxin 1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome biogenesis protein PAS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX1",
                    "type": "recommended"
                },
                {
                    "name": "PAS1",
                    "type": "synonym"
                },
                {
                    "name": "PEX1",
                    "type": "synonym"
                }
            ],
            "record_id": "P24004-1",
            "evidence": [
                {
                    "id": "0080476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZB2-1",
            "uniprot_ac": "D3ZZB2",
            "uniprot_id": "D3ZZB2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX1",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome biogenesis factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZZB2-1",
            "evidence": [
                {
                    "id": "0080476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUC7-1",
            "uniprot_ac": "Q9VUC7",
            "uniprot_id": "Q9VUC7_DROME",
            "refseq_ac": "NP_652016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX1",
                    "type": "recommended"
                },
                {
                    "name": "CG6760-PA",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-1",
                    "type": "synonym"
                },
                {
                    "name": "Pex1-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 70Da",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex1",
                    "type": "recommended"
                },
                {
                    "name": "07",
                    "type": "synonym"
                },
                {
                    "name": "0848/07",
                    "type": "synonym"
                },
                {
                    "name": "CG6760",
                    "type": "synonym"
                },
                {
                    "name": "DmCAB51031.1",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6760",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6760",
                    "type": "synonym"
                },
                {
                    "name": "PEX1",
                    "type": "synonym"
                },
                {
                    "name": "Pex1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.100",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.101",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.102",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.96",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.98",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.99",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02402",
                    "type": "synonym"
                },
                {
                    "name": "l(3)084807",
                    "type": "synonym"
                },
                {
                    "name": "l(3)70Da",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S084807",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s4868",
                    "type": "synonym"
                },
                {
                    "name": "pex1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUC7-1",
            "evidence": [
                {
                    "id": "0080476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080476"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080476"
}