{
    "disease_id": "DOID:0051046",
    "recommended_name": {
        "id": "DOID:0051046",
        "resource": "Disease Ontology",
        "url": "https://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": ""
        },
        {
            "id": "MIM:621099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621099",
            "name": "Spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
            "description": "Spondyloepimetaphyseal dysplasia, Li-Shao-Li type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051046"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051046",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051046",
            "categories": []
        },
        {
            "id": "MONDO:0976230",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976230",
            "categories": []
        },
        {
            "id": "MIM:621099",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "CCN family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor precursor (CTGF) (FISP-12 protein) (Hypertrophic chondrocyte-specific protein 24)",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Hypertrophic chondrocyte-specific protein 24",
                    "type": "synonym"
                },
                {
                    "name": "Protein FISP-12",
                    "type": "synonym"
                },
                {
                    "name": "cellular communication network factor 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast inducible secreated protein",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast inducible secreted protein",
                    "type": "synonym"
                },
                {
                    "name": "hypertrophic chondrocyte-specific gene product 24",
                    "type": "synonym"
                },
                {
                    "name": "hypertrophic chondrocyte-specific protein 24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn2",
                    "type": "recommended"
                },
                {
                    "name": "Ccn2",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf",
                    "type": "synonym"
                },
                {
                    "name": "Fisp-12",
                    "type": "synonym"
                },
                {
                    "name": "Fisp12",
                    "type": "synonym"
                },
                {
                    "name": "Hcs24",
                    "type": "synonym"
                },
                {
                    "name": "betaIG-M2",
                    "type": "synonym"
                },
                {
                    "name": "fisp-12",
                    "type": "synonym"
                }
            ],
            "record_id": "P29268-1",
            "evidence": [
                {
                    "id": "0051046",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "CCN family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Hypertrophic chondrocyte-specific protein 24",
                    "type": "synonym"
                },
                {
                    "name": "IBP-8",
                    "type": "synonym"
                },
                {
                    "name": "IGF-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP-8",
                    "type": "synonym"
                },
                {
                    "name": "Insulin-like growth factor-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "connective tissue growth factor",
                    "type": "synonym"
                },
                {
                    "name": "hypertrophic chondrocyte-specific protein 24",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor-binding protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCN2",
                    "type": "recommended"
                },
                {
                    "name": "CCN2",
                    "type": "synonym"
                },
                {
                    "name": "CTGF",
                    "type": "synonym"
                },
                {
                    "name": "HCS24",
                    "type": "synonym"
                },
                {
                    "name": "IBP-8",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP8",
                    "type": "synonym"
                },
                {
                    "name": "KMD",
                    "type": "synonym"
                },
                {
                    "name": "NOV2",
                    "type": "synonym"
                },
                {
                    "name": "SEMDLSL",
                    "type": "synonym"
                }
            ],
            "record_id": "P29279-1",
            "evidence": [
                {
                    "id": "621099",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621099"
                },
                {
                    "id": "0051046",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "CCN family member 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "CCN family member 2",
                    "type": "synonym"
                },
                {
                    "name": "Cellular communication network factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth factor",
                    "type": "synonym"
                },
                {
                    "name": "Connective tissue growth-related protein",
                    "type": "synonym"
                },
                {
                    "name": "connective tissue growth factor",
                    "type": "synonym"
                },
                {
                    "name": "connective tissue growth-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn2",
                    "type": "recommended"
                },
                {
                    "name": "CTGRP",
                    "type": "synonym"
                },
                {
                    "name": "Ccn2",
                    "type": "synonym"
                },
                {
                    "name": "Ctgf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1E9-1",
            "evidence": [
                {
                    "id": "0051046",
                    "database": "AGR",
                    "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",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrofolate reductase 1 (active)",
                    "type": "synonym"
                },
                {
                    "name": "dihydrofolate reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhfr",
                    "type": "recommended"
                },
                {
                    "name": "Dhfr1",
                    "type": "synonym"
                },
                {
                    "name": "Dhfr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920D2-1",
            "evidence": [
                {
                    "id": "0051046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "Ccn-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ccn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccn",
                    "type": "recommended"
                },
                {
                    "name": "CG13735",
                    "type": "synonym"
                },
                {
                    "name": "CG13736",
                    "type": "synonym"
                },
                {
                    "name": "CG32183",
                    "type": "synonym"
                },
                {
                    "name": "Ccn",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32183",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32183",
                    "type": "synonym"
                },
                {
                    "name": "dCCN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVK3-1",
            "evidence": [
                {
                    "id": "0051046",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051046"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051046"
}