{
    "disease_id": "DOID:0081440",
    "recommended_name": {
        "id": "DOID:0081440",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081440",
        "name": "Peroxisome biogenesis disorder 10B",
        "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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0054549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054549",
            "name": "peroxisome biogenesis disorder 10B",
            "description": ""
        },
        {
            "id": "MONDO:0054549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054549",
            "name": "peroxisome biogenesis disorder 10B",
            "description": ""
        },
        {
            "id": "MONDO:0054549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054549",
            "name": "PBD10B",
            "description": ""
        },
        {
            "id": "MIM:617370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617370",
            "name": "Peroxisome biogenesis disorder 10B",
            "description": "Peroxisome biogenesis disorder 10B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081440"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081440",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081440",
            "categories": []
        },
        {
            "id": "MONDO:0054549",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054549",
            "categories": []
        },
        {
            "id": "MIM:617370",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617370",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXY9-1",
            "uniprot_ac": "Q9QXY9",
            "uniprot_id": "PEX3_MOUSE",
            "refseq_ac": "NP_064345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal assembly protein 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex3",
                    "type": "recommended"
                },
                {
                    "name": "1700014F15Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810027F19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900010N04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pex3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXY9-1",
            "evidence": [
                {
                    "id": "0081440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56589-1",
            "uniprot_ac": "P56589",
            "uniprot_id": "PEX3_HUMAN",
            "refseq_ac": "NP_003621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 3",
                    "type": "synonym"
                },
                {
                    "name": "transformation-related protein 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX3",
                    "type": "recommended"
                },
                {
                    "name": "PBD10A",
                    "type": "synonym"
                },
                {
                    "name": "PBD10B",
                    "type": "synonym"
                },
                {
                    "name": "PEX3",
                    "type": "synonym"
                },
                {
                    "name": "TRG18",
                    "type": "synonym"
                }
            ],
            "record_id": "P56589-1",
            "evidence": [
                {
                    "id": "617370",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617370"
                },
                {
                    "id": "0081440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28795-1",
            "uniprot_ac": "P28795",
            "uniprot_id": "PEX3_YEAST",
            "refseq_ac": "NP_010616",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "Pex3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX3",
                    "type": "recommended"
                },
                {
                    "name": "D9798.15",
                    "type": "synonym"
                },
                {
                    "name": "PAS3",
                    "type": "synonym"
                },
                {
                    "name": "PEX3",
                    "type": "synonym"
                }
            ],
            "record_id": "P28795-1",
            "evidence": [
                {
                    "id": "0081440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJK4-1",
            "uniprot_ac": "Q9JJK4",
            "uniprot_id": "PEX3_RAT",
            "refseq_ac": "NP_112640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex3",
                    "type": "recommended"
                },
                {
                    "name": "Pex3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJK4-1",
            "evidence": [
                {
                    "id": "0081440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUL8-1",
            "uniprot_ac": "Q9VUL8",
            "uniprot_id": "Q9VUL8_DROME",
            "refseq_ac": "NP_001261871",
            "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 biogenesis factor 3",
                    "type": "recommended"
                },
                {
                    "name": "CG6859-PB",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal assembly protein PEX3",
                    "type": "synonym"
                },
                {
                    "name": "Pex3-PB",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex3",
                    "type": "recommended"
                },
                {
                    "name": "CG6859",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6859",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6859",
                    "type": "synonym"
                },
                {
                    "name": "PEX3",
                    "type": "synonym"
                },
                {
                    "name": "Pex3",
                    "type": "synonym"
                },
                {
                    "name": "pex3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUL8-1",
            "evidence": [
                {
                    "id": "0081440",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081440"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081440"
}