{
    "disease_id": "DOID:0090004",
    "recommended_name": {
        "id": "DOID:0090004",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090004",
        "name": "progressive pseudorheumatoid arthropathy of childhood",
        "description": "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0090004",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090004",
            "name": "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "progressive pseudorheumatoid arthropathy of childhood",
            "description": "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED."
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "progressive pseudorheumatoid arthropathy of childhood",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "PPAC",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "PPD",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "SEDT-PA",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "arthropathy, progressive pseudorheumatoid, of childhood",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "progressive pseudorheumatoid chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "progressive pseudorheumatoid dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "spondyloepiphyseal dysplasia tarda - progressive arthropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "name": "spondyloepiphyseal dysplasia tarda with progressive arthropathy",
            "description": ""
        },
        {
            "id": "MIM:208230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208230",
            "name": "Progressive pseudorheumatoid dysplasia",
            "description": "Progressive pseudorheumatoid dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090004"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090004",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090004",
            "categories": []
        },
        {
            "id": "MONDO:0008827",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008827",
            "categories": []
        },
        {
            "id": "MIM:208230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9VVK3-1",
            "uniprot_ac": "Q9VVK3",
            "uniprot_id": "Q9VVK3_DROME",
            "refseq_ac": "NP_730294",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32183-PB; Ccn-PB",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ccn",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ccn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GH26928p",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG13735; CG13736; CG32183; dCCN; Dmel\\CG32183",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG13735",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG13736",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG32183",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Ccn",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32183",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32183",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dCCN",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z5L9-1",
            "uniprot_ac": "D3Z5L9",
            "uniprot_id": "CCN6_MOUSE",
            "refseq_ac": "NP_001120848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cellular communication network factor 6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 6; WNT1 inducible signaling pathway protein 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CCN family member 6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WISP-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WNT1-inducible-signaling pathway protein 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cellular communication network factor 6 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccn6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gm735; WISP-3; Wisp3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Wisp3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95389-1",
            "uniprot_ac": "O95389",
            "uniprot_id": "CCN6_HUMAN",
            "refseq_ac": "NP_003871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cellular communication network factor 6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WISP-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WNT1-inducible-signaling pathway protein 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cellular communication network factor 6 isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein; WNT1 inducible signaling pathway protein 3; CCN family member 6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCN6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LIBC; PPAC; PPD; PPRD; WISP-3; WISP3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PRO956",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WISP3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hCG_34804",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090004"
                },
                {
                    "id": "208230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208230"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D0E2W2-1",
            "uniprot_ac": "D0E2W2",
            "uniprot_id": "D0E2W2_DANRE",
            "refseq_ac": "NP_001159703",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cellular communication network factor 6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WNT1 inducible signaling pathway protein 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "WNT1 inducible signaling pathway protein 3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "cellular communication network factor 6 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccn6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ccn6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-119m7.6; wisp3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-119m7.6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wisp3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090004"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDL5-1",
            "uniprot_ac": "D3ZDL5",
            "uniprot_id": "D3ZDL5_RAT",
            "refseq_ac": "NP_001163954",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cellular communication network factor 6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "WNT1 inducible signaling pathway protein 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "cellular communication network factor 6 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn6",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccn6",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564120; Wisp3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Wisp3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0090004",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090004"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090004"
}