{
    "disease_id": "DOID:0081274",
    "recommended_name": {
        "id": "DOID:0081274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081274",
        "name": "peroxisome biogenesis disorder 14B",
        "description": "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "name": "peroxisome biogenesis disorder 14B",
            "description": ""
        },
        {
            "id": "MONDO:0013967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "name": "PEX11B peroxisome biogenesis disorder",
            "description": ""
        },
        {
            "id": "MONDO:0013967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "name": "peroxisome biogenesis disorder 14B",
            "description": ""
        },
        {
            "id": "MONDO:0013967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "name": "peroxisome biogenesis disorder type 14B",
            "description": ""
        },
        {
            "id": "MONDO:0013967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "name": "PEX14B",
            "description": ""
        },
        {
            "id": "MIM:614920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614920",
            "name": "Peroxisome biogenesis disorder 14B",
            "description": "Peroxisome biogenesis disorder 14B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081274"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081274",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081274",
            "categories": []
        },
        {
            "id": "MONDO:0013967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013967",
            "categories": []
        },
        {
            "id": "MIM:614920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614920",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z210-1",
            "uniprot_ac": "Q9Z210",
            "uniprot_id": "PX11B_MOUSE",
            "refseq_ac": "NP_001155859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein 11B",
                    "type": "recommended"
                },
                {
                    "name": "PEX11-beta",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-11B",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 11B",
                    "type": "synonym"
                },
                {
                    "name": "Protein PEX11 homolog beta",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-11B",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 11b",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 11B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 11B",
                    "type": "synonym"
                },
                {
                    "name": "protein PEX11 homolog beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex11b",
                    "type": "recommended"
                },
                {
                    "name": "PEX11beta",
                    "type": "synonym"
                },
                {
                    "name": "Pex11b",
                    "type": "synonym"
                },
                {
                    "name": "Pex11pbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z210-1",
            "evidence": [
                {
                    "id": "0081274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96011-1",
            "uniprot_ac": "O96011",
            "uniprot_id": "PX11B_HUMAN",
            "refseq_ac": "NP_001171724",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein 11B",
                    "type": "recommended"
                },
                {
                    "name": "PEX11-beta",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-11B",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal biogenesis factor 11B",
                    "type": "synonym"
                },
                {
                    "name": "Protein PEX11 homolog beta",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-11B",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 11B",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 11B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 11B",
                    "type": "synonym"
                },
                {
                    "name": "protein PEX11 homolog beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX11B",
                    "type": "recommended"
                },
                {
                    "name": "PEX11-BETA",
                    "type": "synonym"
                },
                {
                    "name": "PEX11B",
                    "type": "synonym"
                },
                {
                    "name": "PEX11beta",
                    "type": "synonym"
                },
                {
                    "name": "PEX14B",
                    "type": "synonym"
                }
            ],
            "record_id": "O96011-1",
            "evidence": [
                {
                    "id": "614920",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614920"
                },
                {
                    "id": "0081274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12462-1",
            "uniprot_ac": "Q12462",
            "uniprot_id": "PEX11_YEAST",
            "refseq_ac": "NP_014494",
            "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 PMP27",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-11",
                    "type": "synonym"
                },
                {
                    "name": "Pex11p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX11",
                    "type": "recommended"
                },
                {
                    "name": "O0454",
                    "type": "synonym"
                },
                {
                    "name": "PEX11",
                    "type": "synonym"
                },
                {
                    "name": "PMP24",
                    "type": "synonym"
                },
                {
                    "name": "PMP27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12462-1",
            "evidence": [
                {
                    "id": "0081274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FA09-1",
            "uniprot_ac": "F7FA09",
            "uniprot_id": "F7FA09_RAT",
            "refseq_ac": "NP_001020855",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 11 beta",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 11b",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein 11B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex11b",
                    "type": "recommended"
                },
                {
                    "name": "Pex11b",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FA09-1",
            "evidence": [
                {
                    "id": "0081274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081274"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081274"
}