{
    "disease_id": "DOID:0080483",
    "recommended_name": {
        "id": "DOID:0080483",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080483",
        "name": "peroxisome biogenesis disorder 8A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0080483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080483",
            "name": "peroxisome biogenesis disorder 8A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013942",
            "name": "peroxisome biogenesis disorder 8A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013942",
            "name": "peroxisome biogenesis disorder 8A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013942",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013942",
            "name": "PBD8A",
            "description": ""
        },
        {
            "id": "MIM:614876",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614876",
            "name": "Peroxisome biogenesis disorder 8A",
            "description": "Peroxisome biogenesis disorder 8A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080483"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080483",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080483",
            "categories": []
        },
        {
            "id": "MONDO:0013942",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013942",
            "categories": []
        },
        {
            "id": "MIM:614876",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614876",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4QRH7-1",
            "uniprot_ac": "Q4QRH7",
            "uniprot_id": "PEX16_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX16",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-16",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pex16",
                    "type": "recommended"
                },
                {
                    "name": "im:6894523",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112248",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QRH7-1",
            "evidence": [
                {
                    "id": "0080483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91XC9-1",
            "uniprot_ac": "Q91XC9",
            "uniprot_id": "PEX16_MOUSE",
            "refseq_ac": "NP_660104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX16",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-16",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 16",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-16",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 16 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex16",
                    "type": "recommended"
                },
                {
                    "name": "Pex16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91XC9-1",
            "evidence": [
                {
                    "id": "0080483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5Y5-1",
            "uniprot_ac": "Q9Y5Y5",
            "uniprot_id": "PEX16_HUMAN",
            "refseq_ac": "NP_004804",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX16",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-16",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 16",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 16",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 16 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX16",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX16",
                    "type": "recommended"
                },
                {
                    "name": "PBD8A",
                    "type": "synonym"
                },
                {
                    "name": "PBD8B",
                    "type": "synonym"
                },
                {
                    "name": "PEX16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5Y5-1",
            "evidence": [
                {
                    "id": "614876",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614876"
                },
                {
                    "id": "0080483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JWT6-1",
            "uniprot_ac": "A0A0G2JWT6",
            "uniprot_id": "A0A0G2JWT6_RAT",
            "refseq_ac": "NP_001012088",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX16",
                    "type": "recommended"
                },
                {
                    "name": "peroxisomal biogenesis factor 16",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex16",
                    "type": "recommended"
                },
                {
                    "name": "Pex16",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JWT6-1",
            "evidence": [
                {
                    "id": "0080483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPB9-1",
            "uniprot_ac": "Q9VPB9",
            "uniprot_id": "Q9VPB9_DROME",
            "refseq_ac": "NP_649252",
            "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 membrane protein PEX16",
                    "type": "recommended"
                },
                {
                    "name": "CG3947-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pex16-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex16",
                    "type": "recommended"
                },
                {
                    "name": "CG3947",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex16",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3947",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3947",
                    "type": "synonym"
                },
                {
                    "name": "PEX16",
                    "type": "synonym"
                },
                {
                    "name": "Pex16",
                    "type": "synonym"
                },
                {
                    "name": "pex16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPB9-1",
            "evidence": [
                {
                    "id": "0080483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080483"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080483"
}