{
    "disease_id": "DOID:0051046",
    "recommended_name": {
        "id": "DOID:0051046",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051046",
        "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0976230",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976230",
            "name": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051046"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051046",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0051046",
            "categories": []
        },
        {
            "id": "MONDO:0976230",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976230",
            "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": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29268-1",
            "uniprot_ac": "P29268",
            "uniprot_id": "CCN2_MOUSE",
            "refseq_ac": "NP_034347",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCN family member 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hypertrophic chondrocyte-specific protein 24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein FISP-12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast inducible secreated protein; CCN family member 2; hypertrophic chondrocyte-specific protein 24; fibroblast inducible secreted protein; hypertrophic chondrocyte-specific gene product 24; Connective tissue growth factor precursor (CTGF) (FISP-12 protein) (Hypertrophic chondrocyte-specific protein 24); cellular communication network factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccn2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf; fisp-12; Fisp12; Hcs24",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Fisp-12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Fisp12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hcs24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "betaIG-M2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29279-1",
            "uniprot_ac": "P29279",
            "uniprot_id": "CCN2_HUMAN",
            "refseq_ac": "NP_001892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCN family member 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hypertrophic chondrocyte-specific protein 24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IBP-8",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IGF-binding protein 8",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP-8",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor-binding protein 8",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hypertrophic chondrocyte-specific protein 24; insulin-like growth factor-binding protein 8; CCN family member 2; IGF-binding protein 8; connective tissue growth factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCN2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CTGF; HCS24; IBP-8; IGFBP8; KMD; NOV2; SEMDLSL",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CTGF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HCS24",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP8",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5PN60-1",
            "uniprot_ac": "A5PN60",
            "uniprot_id": "A5PN60_DANRE",
            "refseq_ac": "XP_005173827",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCN family member 2b isoform X1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CCN family member 2b isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2b",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor-like protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccn2b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ccn2b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ctgf; ctgfb; si:ch211-173b8.2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ctgfb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ctgf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-173b8.2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RI33-1",
            "uniprot_ac": "Q5RI33",
            "uniprot_id": "Q5RI33_DANRE",
            "refseq_ac": "NP_001015041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCN family member 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2a precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zCTGF-c20; connective tissue growth factor a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccn2a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CH211-193L17.2-001",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ccn2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ctgf; ctgfa; hm:zeh1559; si:dkey-266k12.4; wu:fl25c03; zgc:136644",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ctgfa",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ctgf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hm:zeh1559",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-266k12.4",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl25c03",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136644",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1E9-1",
            "uniprot_ac": "Q9R1E9",
            "uniprot_id": "CCN2_RAT",
            "refseq_ac": "NP_071602",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCN family member 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth-related protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "connective tissue growth-related protein; CCN family member 2; connective tissue growth factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ccn2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf; CTGRP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920D2-1",
            "uniprot_ac": "Q920D2",
            "uniprot_id": "DYR_RAT",
            "refseq_ac": "NP_569084",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrofolate reductase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrofolate reductase 1 (active)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dihydrofolate reductase",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhfr",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Dhfr1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Dhfr",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0051046",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051046"
}