{
    "disease_id": "DOID:0080487",
    "recommended_name": {
        "id": "DOID:0080487",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080487",
        "name": "peroxisome biogenesis disorder 13A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080487",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080487",
            "name": "peroxisome biogenesis disorder 13A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013952",
            "name": "peroxisome biogenesis disorder 13A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013952",
            "name": "peroxisome biogenesis disorder 13A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013952",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013952",
            "name": "PBD13A",
            "description": ""
        },
        {
            "id": "MIM:614887",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614887",
            "name": "Peroxisome biogenesis disorder complementation group K",
            "description": "Peroxisome biogenesis disorder complementation group K"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080487"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080487",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080487",
            "categories": []
        },
        {
            "id": "MONDO:0013952",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013952",
            "categories": []
        },
        {
            "id": "MIM:614887",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614887",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7Z4-1",
            "uniprot_ac": "A0ACD6B7Z4",
            "uniprot_id": "A0ACD6B7Z4_DANRE",
            "refseq_ac": "XP_005162340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX14",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX14 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pex14",
                    "type": "recommended"
                },
                {
                    "name": "pex14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7Z4-1",
            "evidence": [
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0A0-1",
            "uniprot_ac": "Q9R0A0",
            "uniprot_id": "PEX14_MOUSE",
            "refseq_ac": "NP_062755",
            "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 PEX14",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor-docking protein",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex14",
                    "type": "recommended"
                },
                {
                    "name": "Pex14p",
                    "type": "synonym"
                },
                {
                    "name": "Pex14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0A0-1",
            "evidence": [
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75381-1",
            "uniprot_ac": "O75381",
            "uniprot_id": "PEX14_HUMAN",
            "refseq_ac": "NP_004556",
            "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 PEX14",
                    "type": "recommended"
                },
                {
                    "name": "NF-E2 associated polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "PTS1 receptor docking protein",
                    "type": "synonym"
                },
                {
                    "name": "PTS1 receptor-docking protein",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane anchor protein Pex14p",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX14",
                    "type": "recommended"
                },
                {
                    "name": "NAPP2",
                    "type": "synonym"
                },
                {
                    "name": "PBD13A",
                    "type": "synonym"
                },
                {
                    "name": "PEX14",
                    "type": "synonym"
                },
                {
                    "name": "Pex14p",
                    "type": "synonym"
                },
                {
                    "name": "dJ734G22.2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75381-1",
            "evidence": [
                {
                    "id": "614887",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614887"
                },
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53112-1",
            "uniprot_ac": "P53112",
            "uniprot_id": "PEX14_YEAST",
            "refseq_ac": "NP_011362",
            "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 PEX14",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "Pex14p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX14",
                    "type": "recommended"
                },
                {
                    "name": "G1870",
                    "type": "synonym"
                },
                {
                    "name": "PEX14",
                    "type": "synonym"
                }
            ],
            "record_id": "P53112-1",
            "evidence": [
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q642G4-1",
            "uniprot_ac": "Q642G4",
            "uniprot_id": "PEX14_RAT",
            "refseq_ac": "NP_742060",
            "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 PEX14",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor-docking protein",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane anchor protein PEX14",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal membrane protein PEX14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex14",
                    "type": "recommended"
                },
                {
                    "name": "Pex14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q642G4-1",
            "evidence": [
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPB8-1",
            "uniprot_ac": "Q9VPB8",
            "uniprot_id": "Q9VPB8_DROME",
            "refseq_ac": "NP_649253",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal membrane protein PEX14",
                    "type": "recommended"
                },
                {
                    "name": "CG4289-PA",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-14",
                    "type": "synonym"
                },
                {
                    "name": "Pex14-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex14",
                    "type": "recommended"
                },
                {
                    "name": "CG4289",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex14",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4289",
                    "type": "synonym"
                },
                {
                    "name": "PEX14",
                    "type": "synonym"
                },
                {
                    "name": "Pex14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPB8-1",
            "evidence": [
                {
                    "id": "0080487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080487"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080487"
}