{
    "disease_id": "DOID:0080479",
    "recommended_name": {
        "id": "DOID:0080479",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080479",
        "name": "peroxisome biogenesis disorder 4A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0080479",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080479",
            "name": "peroxisome biogenesis disorder 4A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013930",
            "name": "peroxisome biogenesis disorder 4A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013930",
            "name": "classic peroxisome biogenesis disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013930",
            "name": "peroxisome biogenesis disorder 4A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013930",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013930",
            "name": "PBD4A",
            "description": ""
        },
        {
            "id": "MIM:614862",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614862",
            "name": "Peroxisome biogenesis disorder 4A",
            "description": "Peroxisome biogenesis disorder 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080479"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080479",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080479",
            "categories": []
        },
        {
            "id": "MONDO:0013930",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013930",
            "categories": []
        },
        {
            "id": "MIM:614862",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614862",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B693-1",
            "uniprot_ac": "A0ACD6B693",
            "uniprot_id": "A0ACD6B693_DANRE",
            "refseq_ac": "XP_001332652",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX6",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pex6",
                    "type": "recommended"
                },
                {
                    "name": "pex6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B693-1",
            "evidence": [
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LC9-1",
            "uniprot_ac": "Q99LC9",
            "uniprot_id": "PEX6_MOUSE",
            "refseq_ac": "NP_663463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 6",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal-type ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex6",
                    "type": "recommended"
                },
                {
                    "name": "D130055I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "PAF-2",
                    "type": "synonym"
                },
                {
                    "name": "Pex6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LC9-1",
            "evidence": [
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13608-1",
            "uniprot_ac": "Q13608",
            "uniprot_id": "PEX6_HUMAN",
            "refseq_ac": "NP_000278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "PAF-2",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal-type ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal AAA-type ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal-type ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 6 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX6",
                    "type": "recommended"
                },
                {
                    "name": "HMLR2",
                    "type": "synonym"
                },
                {
                    "name": "PAF-2",
                    "type": "synonym"
                },
                {
                    "name": "PAF2",
                    "type": "synonym"
                },
                {
                    "name": "PBD4A",
                    "type": "synonym"
                },
                {
                    "name": "PDB4B",
                    "type": "synonym"
                },
                {
                    "name": "PEX6",
                    "type": "synonym"
                },
                {
                    "name": "PXAAA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13608-1",
            "evidence": [
                {
                    "id": "614862",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614862"
                },
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33760-1",
            "uniprot_ac": "P33760",
            "uniprot_id": "PEX6_YEAST",
            "refseq_ac": "NP_014070",
            "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 PEX6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "AAA family ATPase peroxin 6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX6",
                    "type": "recommended"
                },
                {
                    "name": "N0310",
                    "type": "synonym"
                },
                {
                    "name": "PAS8",
                    "type": "synonym"
                },
                {
                    "name": "PEX6",
                    "type": "synonym"
                }
            ],
            "record_id": "P33760-1",
            "evidence": [
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54777-1",
            "uniprot_ac": "P54777",
            "uniprot_id": "PEX6_RAT",
            "refseq_ac": "NP_476466",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal ATPase PEX6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "PAF-2",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 6",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal ATPase PEX6",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal-type ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 2-like",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex6",
                    "type": "recommended"
                },
                {
                    "name": "Paf-2",
                    "type": "synonym"
                },
                {
                    "name": "Paf2",
                    "type": "synonym"
                },
                {
                    "name": "Pex6",
                    "type": "synonym"
                }
            ],
            "record_id": "P54777-1",
            "evidence": [
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8D1-1",
            "uniprot_ac": "A1Z8D1",
            "uniprot_id": "A1Z8D1_DROME",
            "refseq_ac": "NP_001027403",
            "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 PEX6",
                    "type": "recommended"
                },
                {
                    "name": "CG11919-PD",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-6",
                    "type": "synonym"
                },
                {
                    "name": "Pex6-PD",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 6, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex6",
                    "type": "recommended"
                },
                {
                    "name": "CG11919",
                    "type": "synonym"
                },
                {
                    "name": "CG30019",
                    "type": "synonym"
                },
                {
                    "name": "DmCG11919",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11919",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11919",
                    "type": "synonym"
                },
                {
                    "name": "PEX6",
                    "type": "synonym"
                },
                {
                    "name": "Pex6",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8D1-1",
            "evidence": [
                {
                    "id": "0080479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080479"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080479"
}