{
    "disease_id": "DOID:0080482",
    "recommended_name": {
        "id": "DOID:0080482",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080482",
        "name": "peroxisome biogenesis disorder 7A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080482",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080482",
            "name": "peroxisome biogenesis disorder 7A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013938",
            "name": "peroxisome biogenesis disorder 7A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013938",
            "name": "peroxisome biogenesis disorder 7A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013938",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013938",
            "name": "PBD7A",
            "description": ""
        },
        {
            "id": "MIM:614872",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614872",
            "name": "Peroxisome biogenesis disorder 7A",
            "description": "Peroxisome biogenesis disorder 7A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080482"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080482",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080482",
            "categories": []
        },
        {
            "id": "MONDO:0013938",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013938",
            "categories": []
        },
        {
            "id": "MIM:614872",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614872",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BGI5-1",
            "uniprot_ac": "Q8BGI5",
            "uniprot_id": "PEX26_MOUSE",
            "refseq_ac": "NP_001291702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 26",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-26",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-26",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 26 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 26",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex26",
                    "type": "recommended"
                },
                {
                    "name": "4632428M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pex26",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGI5-1",
            "evidence": [
                {
                    "id": "0080482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z412-1",
            "uniprot_ac": "Q7Z412",
            "uniprot_id": "PEX26_HUMAN",
            "refseq_ac": "NP_001121121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome assembly protein 26",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-26",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-26",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 26 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome assembly protein 26",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis disorder, complementation group 8",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis disorder, complementation group A",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX26",
                    "type": "recommended"
                },
                {
                    "name": "PBD7A",
                    "type": "synonym"
                },
                {
                    "name": "PBD7B",
                    "type": "synonym"
                },
                {
                    "name": "PEX26M1T",
                    "type": "synonym"
                },
                {
                    "name": "PEX26",
                    "type": "synonym"
                },
                {
                    "name": "Pex26pM1T",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z412-1",
            "evidence": [
                {
                    "id": "614872",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614872"
                },
                {
                    "id": "0080482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080482"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080482"
}