{
    "disease_id": "DOID:0061155",
    "recommended_name": {
        "id": "DOID:0061155",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061155",
        "name": "kyphomelic dysplasia",
        "description": "A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "DOID:0061155",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061155",
            "name": "pseudocampomelia",
            "description": ""
        },
        {
            "id": "MONDO:0008881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008881",
            "name": "kyphomelic dysplasia",
            "description": "Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome."
        },
        {
            "id": "MONDO:0008881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008881",
            "name": "kyphomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008881",
            "name": "congenital bowing with short bones",
            "description": ""
        },
        {
            "id": "MIM:211350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211350",
            "name": "Kyphomelic dysplasia",
            "description": "Kyphomelic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061155"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061155",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061155",
            "categories": []
        },
        {
            "id": "MONDO:0008881",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008881",
            "categories": []
        },
        {
            "id": "MIM:211350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211350",
            "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": "0061155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061155"
                }
            ]
        },
        {
            "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": "211350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211350"
                },
                {
                    "id": "0061155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061155"
                }
            ]
        },
        {
            "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": "0061155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061155"
                }
            ]
        },
        {
            "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": "0061155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061155"
                }
            ]
        },
        {
            "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": "0061155",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061155"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061155"
}