{
    "disease_id": "DOID:0110851",
    "recommended_name": {
        "id": "DOID:0110851",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110851",
        "name": "rhizomelic chondrodysplasia punctata type 1",
        "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110851",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110851",
            "name": "Peroxisome Biogenesis Disorder 9",
            "description": ""
        },
        {
            "id": "DOID:0110851",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110851",
            "name": "PBD9",
            "description": ""
        },
        {
            "id": "DOID:0110851",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110851",
            "name": "RCDP1",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "rhizomelic chondrodysplasia punctata type 1",
            "description": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause."
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "PBD9",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "PEX7 rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "Pbd9",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "RCDP1",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "Rcdp1",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "peroxisome biogenesis disorder 9",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in PEX7",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "rhizomelic chondrodysplasia punctata type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008972",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "name": "rhizomelic chondrodysplasia punctata, type 1",
            "description": ""
        },
        {
            "id": "MIM:215100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215100",
            "name": "Rhizomelic chondrodysplasia punctata 1",
            "description": "Rhizomelic chondrodysplasia punctata 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110851"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110851",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110851",
            "categories": []
        },
        {
            "id": "MONDO:0008972",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008972",
            "categories": []
        },
        {
            "id": "MIM:215100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/215100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97865-1",
            "uniprot_ac": "P97865",
            "uniprot_id": "PEX7_MOUSE",
            "refseq_ac": "NP_032848",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome biogenesis factor 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex7",
                    "type": "recommended"
                },
                {
                    "name": "MmPEX7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7",
                    "type": "synonym"
                }
            ],
            "record_id": "P97865-1",
            "evidence": [
                {
                    "id": "0110851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00628-1",
            "uniprot_ac": "O00628",
            "uniprot_id": "PEX7_HUMAN",
            "refseq_ac": "NP_000279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal targeting signal 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal biogenesis factor 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal targeting signal 2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome targeting signal 2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX7",
                    "type": "recommended"
                },
                {
                    "name": "PBD9B",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "PTS2R",
                    "type": "synonym"
                },
                {
                    "name": "RCDP1",
                    "type": "synonym"
                },
                {
                    "name": "RD",
                    "type": "synonym"
                }
            ],
            "record_id": "O00628-1",
            "evidence": [
                {
                    "id": "215100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/215100"
                },
                {
                    "id": "0110851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39108-1",
            "uniprot_ac": "P39108",
            "uniprot_id": "PEX7_YEAST",
            "refseq_ac": "NP_010426",
            "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 2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "PTS2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Peroxin-7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEX7",
                    "type": "recommended"
                },
                {
                    "name": "PAS7",
                    "type": "synonym"
                },
                {
                    "name": "PEB1",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "YD2943.01C",
                    "type": "synonym"
                },
                {
                    "name": "YD9302.18C",
                    "type": "synonym"
                }
            ],
            "record_id": "P39108-1",
            "evidence": [
                {
                    "id": "0110851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110851"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSN7-1",
            "uniprot_ac": "Q9VSN7",
            "uniprot_id": "Q9VSN7_DROME",
            "refseq_ac": "NP_001137914",
            "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-7",
                    "type": "recommended"
                },
                {
                    "name": "CG6486-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pex7-PB",
                    "type": "synonym"
                },
                {
                    "name": "peroxin 7, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pex7",
                    "type": "recommended"
                },
                {
                    "name": "CG6486",
                    "type": "synonym"
                },
                {
                    "name": "DmelPex7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6486",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6486",
                    "type": "synonym"
                },
                {
                    "name": "PEX&",
                    "type": "synonym"
                },
                {
                    "name": "PEX7",
                    "type": "synonym"
                },
                {
                    "name": "Pex7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSN7-1",
            "evidence": [
                {
                    "id": "0110851",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110851"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110851"
}