{
    "disease_id": "DOID:0080486",
    "recommended_name": {
        "id": "DOID:0080486",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080486",
        "name": "peroxisome biogenesis disorder 12A",
        "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080486",
            "name": "peroxisome biogenesis disorder 12A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013951",
            "name": "peroxisome biogenesis disorder 12A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013951",
            "name": "peroxisome biogenesis disorder 12A (Zellweger)",
            "description": ""
        },
        {
            "id": "MONDO:0013951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013951",
            "name": "PBD12A",
            "description": ""
        },
        {
            "id": "MIM:614886",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614886",
            "name": "Peroxisome biogenesis disorder 12A",
            "description": "Peroxisome biogenesis disorder 12A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080486"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080486",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080486",
            "categories": []
        },
        {
            "id": "MONDO:0013951",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013951",
            "categories": []
        },
        {
            "id": "MIM:614886",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614886",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VCI5-1",
            "uniprot_ac": "Q8VCI5",
            "uniprot_id": "PEX19_MOUSE",
            "refseq_ac": "NP_001152997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 19",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal farnesylated protein",
                    "type": "synonym"
                },
                {
                    "name": "PxF",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 19 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal farnesylated protein",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex19",
                    "type": "recommended"
                },
                {
                    "name": "Pex19",
                    "type": "synonym"
                },
                {
                    "name": "Pxf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VCI5-1",
            "evidence": [
                {
                    "id": "0080486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40855-1",
            "uniprot_ac": "P40855",
            "uniprot_id": "PEX19_HUMAN",
            "refseq_ac": "NP_001180573",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal biogenesis factor 19",
                    "type": "recommended"
                },
                {
                    "name": "33 kDa housekeeping protein",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal farnesylated protein",
                    "type": "synonym"
                },
                {
                    "name": "housekeeping gene, 33kD",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 19 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal farnesylated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX19",
                    "type": "recommended"
                },
                {
                    "name": "D1S2223E",
                    "type": "synonym"
                },
                {
                    "name": "HK33",
                    "type": "synonym"
                },
                {
                    "name": "PBD12A",
                    "type": "synonym"
                },
                {
                    "name": "PEX19",
                    "type": "synonym"
                },
                {
                    "name": "PMP1",
                    "type": "synonym"
                },
                {
                    "name": "PMPI",
                    "type": "synonym"
                },
                {
                    "name": "PXF",
                    "type": "synonym"
                },
                {
                    "name": "PXMP1",
                    "type": "synonym"
                },
                {
                    "name": "SW-cl.22",
                    "type": "synonym"
                }
            ],
            "record_id": "P40855-1",
            "evidence": [
                {
                    "id": "614886",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614886"
                },
                {
                    "id": "0080486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07418-1",
            "uniprot_ac": "Q07418",
            "uniprot_id": "PEX19_YEAST",
            "refseq_ac": "NP_010218",
            "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 import receptor PEX19",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "Pex19p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX19",
                    "type": "recommended"
                },
                {
                    "name": "D2528",
                    "type": "synonym"
                },
                {
                    "name": "PAS12",
                    "type": "synonym"
                },
                {
                    "name": "PEX19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07418-1",
            "evidence": [
                {
                    "id": "0080486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYU1-1",
            "uniprot_ac": "Q9QYU1",
            "uniprot_id": "PEX19_RAT",
            "refseq_ac": "",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "Peroxin-19",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal farnesylated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOC102548286",
                    "type": "recommended"
                },
                {
                    "name": "Pex19",
                    "type": "recommended"
                },
                {
                    "name": "LOC102548286",
                    "type": "synonym"
                },
                {
                    "name": "Pex19",
                    "type": "synonym"
                },
                {
                    "name": "Pxf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYU1-1",
            "evidence": [
                {
                    "id": "0080486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP97-1",
            "uniprot_ac": "Q8IP97",
            "uniprot_id": "Q8IP97_DROME",
            "refseq_ac": "NP_609547",
            "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-19",
                    "type": "recommended"
                },
                {
                    "name": "CG5325-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pex19-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 19, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal farnesylated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex19",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH03076",
                    "type": "synonym"
                },
                {
                    "name": "CG5325",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex19",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5325",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5325",
                    "type": "synonym"
                },
                {
                    "name": "PEX19",
                    "type": "synonym"
                },
                {
                    "name": "Pex-19",
                    "type": "synonym"
                },
                {
                    "name": "Pex19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP97-1",
            "evidence": [
                {
                    "id": "0080486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080486"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080486"
}