{
    "disease_id": "DOID:0081434",
    "recommended_name": {
        "id": "DOID:0081434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081434",
        "name": "Peroxisome biogenesis disorder 5B",
        "description": "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013933",
            "name": "peroxisome biogenesis disorder 5B",
            "description": ""
        },
        {
            "id": "MONDO:0013933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013933",
            "name": "peroxisome biogenesis disorder 5B",
            "description": ""
        },
        {
            "id": "MONDO:0013933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013933",
            "name": "peroxisome biogenesis disorder type 5B",
            "description": ""
        },
        {
            "id": "MONDO:0013933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013933",
            "name": "PBD5B",
            "description": ""
        },
        {
            "id": "MIM:614867",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614867",
            "name": "Peroxisome biogenesis disorder 5B",
            "description": "Peroxisome biogenesis disorder 5B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081434"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081434",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081434",
            "categories": []
        },
        {
            "id": "MONDO:0013933",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013933",
            "categories": []
        },
        {
            "id": "MIM:614867",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614867",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4V8-1",
            "uniprot_ac": "E7F4V8",
            "uniprot_id": "PEX2_DANRE",
            "refseq_ac": "NP_001410706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 3 (Zellweger syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pex2",
                    "type": "recommended"
                },
                {
                    "name": "pex2",
                    "type": "synonym"
                },
                {
                    "name": "pxmp3",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4V8-1",
            "evidence": [
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55098-1",
            "uniprot_ac": "P55098",
            "uniprot_id": "PEX2_MOUSE",
            "refseq_ac": "NP_001156773",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "PAF-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Zellweger syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 3, 35 kDa",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex2",
                    "type": "recommended"
                },
                {
                    "name": "D3Ertd138e",
                    "type": "synonym"
                },
                {
                    "name": "PAF-1",
                    "type": "synonym"
                },
                {
                    "name": "PMP35",
                    "type": "synonym"
                },
                {
                    "name": "Paf1",
                    "type": "synonym"
                },
                {
                    "name": "Pex2",
                    "type": "synonym"
                },
                {
                    "name": "Pmp35",
                    "type": "synonym"
                },
                {
                    "name": "Pxmp3",
                    "type": "synonym"
                }
            ],
            "record_id": "P55098-1",
            "evidence": [
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28328-1",
            "uniprot_ac": "P28328",
            "uniprot_id": "PEX2_HUMAN",
            "refseq_ac": "NP_000309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "35 kDa peroxisomal membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "PAF-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 72",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 3, 35kDa",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX2",
                    "type": "recommended"
                },
                {
                    "name": "PAF1",
                    "type": "synonym"
                },
                {
                    "name": "PBD5A",
                    "type": "synonym"
                },
                {
                    "name": "PBD5B",
                    "type": "synonym"
                },
                {
                    "name": "PEX2",
                    "type": "synonym"
                },
                {
                    "name": "PMP35",
                    "type": "synonym"
                },
                {
                    "name": "PMP3",
                    "type": "synonym"
                },
                {
                    "name": "PXMP3",
                    "type": "synonym"
                },
                {
                    "name": "RNF72",
                    "type": "synonym"
                },
                {
                    "name": "ZWS3",
                    "type": "synonym"
                }
            ],
            "record_id": "P28328-1",
            "evidence": [
                {
                    "id": "614867",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614867"
                },
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32800-1",
            "uniprot_ac": "P32800",
            "uniprot_id": "PEX2_YEAST",
            "refseq_ac": "NP_012325",
            "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": "Peroxisomal biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase peroxin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX2",
                    "type": "recommended"
                },
                {
                    "name": "CRT1",
                    "type": "synonym"
                },
                {
                    "name": "HRA271",
                    "type": "synonym"
                },
                {
                    "name": "J0240",
                    "type": "synonym"
                },
                {
                    "name": "PAS5",
                    "type": "synonym"
                },
                {
                    "name": "PEX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32800-1",
            "evidence": [
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24392-1",
            "uniprot_ac": "P24392",
            "uniprot_id": "PEX2_RAT",
            "refseq_ac": "NP_001375433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "PAF-1",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 3, 35 kDa",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly factor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex2",
                    "type": "recommended"
                },
                {
                    "name": "Paf1",
                    "type": "synonym"
                },
                {
                    "name": "Pex2",
                    "type": "synonym"
                },
                {
                    "name": "Pmp35",
                    "type": "synonym"
                },
                {
                    "name": "Pxmp3",
                    "type": "synonym"
                }
            ],
            "record_id": "P24392-1",
            "evidence": [
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSH8-1",
            "uniprot_ac": "Q9VSH8",
            "uniprot_id": "Q9VSH8_DROME",
            "refseq_ac": "NP_648210",
            "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 biogenesis factor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.36",
                    "type": "synonym"
                },
                {
                    "name": "CG7081-PA",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-2",
                    "type": "synonym"
                },
                {
                    "name": "Pex2-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex2",
                    "type": "recommended"
                },
                {
                    "name": "CG7081",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7081",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7081",
                    "type": "synonym"
                },
                {
                    "name": "PEX2",
                    "type": "synonym"
                },
                {
                    "name": "Pex2",
                    "type": "synonym"
                },
                {
                    "name": "pex2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSH8-1",
            "evidence": [
                {
                    "id": "0081434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081434"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081434"
}