{
    "disease_id": "DOID:0081439",
    "recommended_name": {
        "id": "DOID:0081439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081439",
        "name": "Peroxisome biogenesis disorder 11B",
        "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 mutation in the PEX13 gene on chromosome 2p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0013950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013950",
            "name": "peroxisome biogenesis disorder 11B",
            "description": ""
        },
        {
            "id": "MONDO:0013950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013950",
            "name": "peroxisome biogenesis disorder 11B",
            "description": ""
        },
        {
            "id": "MONDO:0013950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013950",
            "name": "peroxisome biogenesis disorder type 11B",
            "description": ""
        },
        {
            "id": "MONDO:0013950",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013950",
            "name": "PBD11B",
            "description": ""
        },
        {
            "id": "MIM:614885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614885",
            "name": "Peroxisome biogenesis disorder 11B",
            "description": "Peroxisome biogenesis disorder 11B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081439"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081439",
            "categories": []
        },
        {
            "id": "MONDO:0013950",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013950",
            "categories": []
        },
        {
            "id": "MIM:614885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0K1-1",
            "uniprot_ac": "Q9D0K1",
            "uniprot_id": "PEX13_MOUSE",
            "refseq_ac": "NP_076140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX13",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex13",
                    "type": "recommended"
                },
                {
                    "name": "2610008O20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pex13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0K1-1",
            "evidence": [
                {
                    "id": "0081439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92968-1",
            "uniprot_ac": "Q92968",
            "uniprot_id": "PEX13_HUMAN",
            "refseq_ac": "NP_002609",
            "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 PEX13",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX13",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX13",
                    "type": "recommended"
                },
                {
                    "name": "NALD",
                    "type": "synonym"
                },
                {
                    "name": "PBD11A",
                    "type": "synonym"
                },
                {
                    "name": "PBD11B",
                    "type": "synonym"
                },
                {
                    "name": "PEX13",
                    "type": "synonym"
                },
                {
                    "name": "ZWS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92968-1",
            "evidence": [
                {
                    "id": "614885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614885"
                },
                {
                    "id": "0081439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80667-1",
            "uniprot_ac": "P80667",
            "uniprot_id": "PEX13_YEAST",
            "refseq_ac": "NP_013292",
            "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 membrane protein PEX13",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxin PEX13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX13",
                    "type": "recommended"
                },
                {
                    "name": "L9470.1",
                    "type": "synonym"
                },
                {
                    "name": "PAS20",
                    "type": "synonym"
                },
                {
                    "name": "PEX13",
                    "type": "synonym"
                }
            ],
            "record_id": "P80667-1",
            "evidence": [
                {
                    "id": "0081439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2Y9-1",
            "uniprot_ac": "D4A2Y9",
            "uniprot_id": "PEX13_RAT",
            "refseq_ac": "NP_001100712",
            "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 PEX13",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-13",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX13",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex13",
                    "type": "recommended"
                },
                {
                    "name": "Pex13",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A2Y9-1",
            "evidence": [
                {
                    "id": "0081439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081439"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081439"
}