{
    "disease_id": "DOID:0110854",
    "recommended_name": {
        "id": "DOID:0110854",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110854",
        "name": "rhizomelic chondrodysplasia punctata type 5",
        "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31."
    },
    "synonyms": [
        {
            "id": "DOID:0110854",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110854",
            "name": "RCDP5",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "rhizomelic chondrodysplasia punctata type 5",
            "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene."
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "PEX5 rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "RCDP5",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "Rcdp5",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in PEX5",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "rhizomelic chondrodysplasia punctata type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014743",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "name": "rhizomelic chondrodysplasia punctata, type 5",
            "description": ""
        },
        {
            "id": "MIM:616716",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616716",
            "name": "Rhizomelic chondrodysplasia punctata 5",
            "description": "Rhizomelic chondrodysplasia punctata 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110854"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110854",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110854",
            "categories": []
        },
        {
            "id": "MONDO:0014743",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014743",
            "categories": []
        },
        {
            "id": "MIM:616716",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616716",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09012-1",
            "uniprot_ac": "O09012",
            "uniprot_id": "PEX5_MOUSE",
            "refseq_ac": "NP_001264259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "PXR1P",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 receptor isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex5",
                    "type": "recommended"
                },
                {
                    "name": "ESTM1",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "PXR1P",
                    "type": "synonym"
                },
                {
                    "name": "Pex5",
                    "type": "synonym"
                },
                {
                    "name": "Pxr1",
                    "type": "synonym"
                }
            ],
            "record_id": "O09012-1",
            "evidence": [
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50542-1",
            "uniprot_ac": "P50542",
            "uniprot_id": "PEX5_HUMAN",
            "refseq_ac": "NP_000310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 5 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal import receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 (SKL type) receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX5",
                    "type": "recommended"
                },
                {
                    "name": "PBD2A",
                    "type": "synonym"
                },
                {
                    "name": "PBD2B",
                    "type": "synonym"
                },
                {
                    "name": "PEX5",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "PXR1",
                    "type": "synonym"
                },
                {
                    "name": "RCDP5",
                    "type": "synonym"
                }
            ],
            "record_id": "P50542-1",
            "evidence": [
                {
                    "id": "616716",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616716"
                },
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35056-1",
            "uniprot_ac": "P35056",
            "uniprot_id": "PEX5_YEAST",
            "refseq_ac": "NP_010530",
            "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 targeting signal receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "Pex5p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX5",
                    "type": "recommended"
                },
                {
                    "name": "PAS10",
                    "type": "synonym"
                },
                {
                    "name": "PEX5",
                    "type": "synonym"
                },
                {
                    "name": "YD8419.11",
                    "type": "synonym"
                }
            ],
            "record_id": "P35056-1",
            "evidence": [
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04364-1",
            "uniprot_ac": "Q04364",
            "uniprot_id": "PEX9_YEAST",
            "refseq_ac": "NP_013731",
            "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 targeting signal receptor 9",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor 9",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R 9",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-9",
                    "type": "synonym"
                },
                {
                    "name": "Pex9p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX9",
                    "type": "recommended"
                },
                {
                    "name": "PEX9",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04364-1",
            "evidence": [
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M2R8-1",
            "uniprot_ac": "Q2M2R8",
            "uniprot_id": "PEX5_RAT",
            "refseq_ac": "NP_001164055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxisome receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal C-terminal targeting signal import receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 receptor-like",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex5",
                    "type": "recommended"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "PTS1R",
                    "type": "synonym"
                },
                {
                    "name": "Pex5_predicted",
                    "type": "synonym"
                },
                {
                    "name": "Pex5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M2R8-1",
            "evidence": [
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46085-1",
            "uniprot_ac": "O46085",
            "uniprot_id": "O46085_DROME",
            "refseq_ac": "NP_726771",
            "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 targeting signal 1 receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG14815-PA",
                    "type": "synonym"
                },
                {
                    "name": "PTS1-BP",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-5",
                    "type": "synonym"
                },
                {
                    "name": "Pex5-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 5, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex5",
                    "type": "recommended"
                },
                {
                    "name": "CG14815",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14815",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14815",
                    "type": "synonym"
                },
                {
                    "name": "EG:63B12.5",
                    "type": "synonym"
                },
                {
                    "name": "PEX5",
                    "type": "synonym"
                },
                {
                    "name": "Pex5",
                    "type": "synonym"
                }
            ],
            "record_id": "O46085-1",
            "evidence": [
                {
                    "id": "0110854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110854"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110854"
}