{
    "disease_id": "DOID:0081438",
    "recommended_name": {
        "id": "DOID:0081438",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081438",
        "name": "Peroxisome biogenesis disorder 9B",
        "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 PEX7 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0013945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013945",
            "name": "peroxisome biogenesis disorder 9B",
            "description": ""
        },
        {
            "id": "MONDO:0013945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013945",
            "name": "peroxisome biogenesis disorder 9B",
            "description": ""
        },
        {
            "id": "MONDO:0013945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013945",
            "name": "peroxisome biogenesis disorder type 9B",
            "description": ""
        },
        {
            "id": "MONDO:0013945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013945",
            "name": "PBD9B",
            "description": ""
        },
        {
            "id": "MIM:614879",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614879",
            "name": "Peroxisome biogenesis disorder 9B",
            "description": "Peroxisome biogenesis disorder 9B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081438"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081438",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081438",
            "categories": []
        },
        {
            "id": "MONDO:0013945",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013945",
            "categories": []
        },
        {
            "id": "MIM:614879",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614879",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97865-1",
            "uniprot_ac": "P97865",
            "uniprot_id": "PEX7_MOUSE",
            "refseq_ac": "NP_032848",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex7",
                    "type": "recommended"
                },
                {
                    "name": "MmPEX7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7",
                    "type": "synonym"
                }
            ],
            "record_id": "P97865-1",
            "evidence": [
                {
                    "id": "0081438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00628-1",
            "uniprot_ac": "O00628",
            "uniprot_id": "PEX7_HUMAN",
            "refseq_ac": "NP_000279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome targeting signal 2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX7",
                    "type": "recommended"
                },
                {
                    "name": "PBD9B",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "PTS2R",
                    "type": "synonym"
                },
                {
                    "name": "RCDP1",
                    "type": "synonym"
                },
                {
                    "name": "RD",
                    "type": "synonym"
                }
            ],
            "record_id": "O00628-1",
            "evidence": [
                {
                    "id": "614879",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614879"
                },
                {
                    "id": "0081438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39108-1",
            "uniprot_ac": "P39108",
            "uniprot_id": "PEX7_YEAST",
            "refseq_ac": "NP_010426",
            "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 targeting signal 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX7",
                    "type": "recommended"
                },
                {
                    "name": "PAS7",
                    "type": "synonym"
                },
                {
                    "name": "PEB1",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "YD2943.01C",
                    "type": "synonym"
                },
                {
                    "name": "YD9302.18C",
                    "type": "synonym"
                }
            ],
            "record_id": "P39108-1",
            "evidence": [
                {
                    "id": "0081438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSN7-1",
            "uniprot_ac": "Q9VSN7",
            "uniprot_id": "Q9VSN7_DROME",
            "refseq_ac": "NP_001137914",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxin-7",
                    "type": "recommended"
                },
                {
                    "name": "CG6486-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pex7-PB",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 7, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex7",
                    "type": "recommended"
                },
                {
                    "name": "CG6486",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6486",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6486",
                    "type": "synonym"
                },
                {
                    "name": "PEX&",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSN7-1",
            "evidence": [
                {
                    "id": "0081438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081438"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081438"
}