{
    "disease_id": "DOID:0081435",
    "recommended_name": {
        "id": "DOID:0081435",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081435",
        "name": "Peroxisome biogenesis disorder 6B",
        "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 PEX10 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0013937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013937",
            "name": "peroxisome biogenesis disorder 6B",
            "description": ""
        },
        {
            "id": "MONDO:0013937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013937",
            "name": "peroxisome biogenesis disorder 6B",
            "description": ""
        },
        {
            "id": "MONDO:0013937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013937",
            "name": "peroxisome biogenesis disorder type 6B",
            "description": ""
        },
        {
            "id": "MONDO:0013937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013937",
            "name": "PBD6B",
            "description": ""
        },
        {
            "id": "MIM:614871",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614871",
            "name": "Peroxisome biogenesis disorder 6B",
            "description": "Peroxisome biogenesis disorder 6B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081435"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081435",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081435",
            "categories": []
        },
        {
            "id": "MONDO:0013937",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013937",
            "categories": []
        },
        {
            "id": "MIM:614871",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614871",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B1AUE5-1",
            "uniprot_ac": "B1AUE5",
            "uniprot_id": "PEX10_MOUSE",
            "refseq_ac": "NP_001035866",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-10",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex10",
                    "type": "recommended"
                },
                {
                    "name": "Gm142",
                    "type": "synonym"
                },
                {
                    "name": "Pex10",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AUE5-1",
            "evidence": [
                {
                    "id": "0081435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60683-1",
            "uniprot_ac": "O60683",
            "uniprot_id": "PEX10_HUMAN",
            "refseq_ac": "NP_002608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 69",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 10",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX10",
                    "type": "recommended"
                },
                {
                    "name": "NALD",
                    "type": "synonym"
                },
                {
                    "name": "PBD6A",
                    "type": "synonym"
                },
                {
                    "name": "PBD6B",
                    "type": "synonym"
                },
                {
                    "name": "PEX10",
                    "type": "synonym"
                },
                {
                    "name": "RNF69",
                    "type": "synonym"
                }
            ],
            "record_id": "O60683-1",
            "evidence": [
                {
                    "id": "614871",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614871"
                },
                {
                    "id": "0081435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05568-1",
            "uniprot_ac": "Q05568",
            "uniprot_id": "PEX10_YEAST",
            "refseq_ac": "NP_010551",
            "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": "Peroxisome biogenesis factor 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-protein ligase peroxin 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX10",
                    "type": "recommended"
                },
                {
                    "name": "D9954.8",
                    "type": "synonym"
                },
                {
                    "name": "PAS4",
                    "type": "synonym"
                },
                {
                    "name": "PEX10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05568-1",
            "evidence": [
                {
                    "id": "0081435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZC81-1",
            "uniprot_ac": "D3ZC81",
            "uniprot_id": "D3ZC81_RAT",
            "refseq_ac": "NP_001102875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome biogenesis factor 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 10",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome assembly protein 10",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex10",
                    "type": "recommended"
                },
                {
                    "name": "Pex10",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZC81-1",
            "evidence": [
                {
                    "id": "0081435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0D7-1",
            "uniprot_ac": "Q9W0D7",
            "uniprot_id": "Q9W0D7_DROME",
            "refseq_ac": "NP_001261265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RING-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG7864-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pex10-PB",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 10, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex10",
                    "type": "recommended"
                },
                {
                    "name": "CG7864",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex10",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7864",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7864",
                    "type": "synonym"
                },
                {
                    "name": "PEX10",
                    "type": "synonym"
                },
                {
                    "name": "Pex10",
                    "type": "synonym"
                },
                {
                    "name": "pex10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0D7-1",
            "evidence": [
                {
                    "id": "0081435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081435"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081435"
}