{
    "disease_id": "DOID:0080044",
    "recommended_name": {
        "id": "DOID:0080044",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080044",
        "name": "hypochondrogenesis",
        "description": "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0080044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080044",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080044",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28481-3",
            "uniprot_ac": "P28481",
            "uniprot_id": "CO2A1_MOUSE",
            "refseq_ac": "NP_001106987",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "chondrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col2a1",
                    "type": "recommended"
                },
                {
                    "name": "Col2a-1",
                    "type": "synonym"
                },
                {
                    "name": "Col2a1",
                    "type": "synonym"
                },
                {
                    "name": "Col2a",
                    "type": "synonym"
                },
                {
                    "name": "Col2",
                    "type": "synonym"
                },
                {
                    "name": "Del1",
                    "type": "synonym"
                },
                {
                    "name": "Dmm",
                    "type": "synonym"
                },
                {
                    "name": "Lpk",
                    "type": "synonym"
                },
                {
                    "name": "M100413",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc413",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc856",
                    "type": "synonym"
                }
            ],
            "record_id": "P28481-3",
            "evidence": [
                {
                    "id": "0080044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05539-1",
            "uniprot_ac": "P05539",
            "uniprot_id": "CO2A1_RAT",
            "refseq_ac": "NP_037061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "Procollagen II alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen type II (Col2A1) gene, enhancer region",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type II, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col2a1",
                    "type": "recommended"
                },
                {
                    "name": "CG2A1A",
                    "type": "synonym"
                },
                {
                    "name": "COLLII",
                    "type": "synonym"
                },
                {
                    "name": "Col2a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05539-1",
            "evidence": [
                {
                    "id": "0080044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53563-1",
            "uniprot_ac": "P53563",
            "uniprot_id": "B2CL1_RAT",
            "refseq_ac": "NP_001028842",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bcl-2-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Apoptosis regulator Bcl-X",
                    "type": "synonym"
                },
                {
                    "name": "B cell lymphoma 2 like",
                    "type": "synonym"
                },
                {
                    "name": "B cell lymphoma like X",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2-L-1",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis regulator Bcl-X",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "bcl2-L-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl2l1",
                    "type": "recommended"
                },
                {
                    "name": "AC098008.1",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-xl",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2l1",
                    "type": "synonym"
                },
                {
                    "name": "Bcl2l",
                    "type": "synonym"
                },
                {
                    "name": "Bclx",
                    "type": "synonym"
                },
                {
                    "name": "Blc2l",
                    "type": "synonym"
                },
                {
                    "name": "bcl-X",
                    "type": "synonym"
                }
            ],
            "record_id": "P53563-1",
            "evidence": [
                {
                    "id": "0080044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NVC6-1",
            "uniprot_ac": "Q9NVC6",
            "uniprot_id": "MED17_HUMAN",
            "refseq_ac": "NP_004259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mediator of RNA polymerase II transcription subunit 17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "DRIP80",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "Trap80",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 77 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 17",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone receptor-associated protein complex 80 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "vitamin D3 receptor-interacting protein complex 80 kDa component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED17",
                    "type": "recommended"
                },
                {
                    "name": "ARC77",
                    "type": "synonym"
                },
                {
                    "name": "CRSP6",
                    "type": "synonym"
                },
                {
                    "name": "CRSP77",
                    "type": "synonym"
                },
                {
                    "name": "DRIP77",
                    "type": "synonym"
                },
                {
                    "name": "DRIP80",
                    "type": "synonym"
                },
                {
                    "name": "MED17",
                    "type": "synonym"
                },
                {
                    "name": "SRB4",
                    "type": "synonym"
                },
                {
                    "name": "TRAP80",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NVC6-1",
            "evidence": [
                {
                    "id": "0080044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080044"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02458-2",
            "uniprot_ac": "P02458",
            "uniprot_id": "CO2A1_HUMAN",
            "refseq_ac": "NP_001835",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(II) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type II collagen",
                    "type": "synonym"
                },
                {
                    "name": "arthroophthalmopathy, progressive (Stickler syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "cartilage collagen",
                    "type": "synonym"
                },
                {
                    "name": "chondrocalcin",
                    "type": "synonym"
                },
                {
                    "name": "collagen II, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(II) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type II, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL2A1",
                    "type": "recommended"
                },
                {
                    "name": "ACG2",
                    "type": "synonym"
                },
                {
                    "name": "ANFH1",
                    "type": "synonym"
                },
                {
                    "name": "ANFH",
                    "type": "synonym"
                },
                {
                    "name": "AOM",
                    "type": "synonym"
                },
                {
                    "name": "COL11A3",
                    "type": "synonym"
                },
                {
                    "name": "COL2A1",
                    "type": "synonym"
                },
                {
                    "name": "EDMMD",
                    "type": "synonym"
                },
                {
                    "name": "LCPD",
                    "type": "synonym"
                },
                {
                    "name": "OSCDP",
                    "type": "synonym"
                },
                {
                    "name": "PLSDT",
                    "type": "synonym"
                },
                {
                    "name": "SEDC",
                    "type": "synonym"
                },
                {
                    "name": "SEDSTN",
                    "type": "synonym"
                },
                {
                    "name": "SEMDSTWK",
                    "type": "synonym"
                },
                {
                    "name": "SMDALG",
                    "type": "synonym"
                },
                {
                    "name": "STL1",
                    "type": "synonym"
                },
                {
                    "name": "VPED",
                    "type": "synonym"
                }
            ],
            "record_id": "P02458-2",
            "evidence": [
                {
                    "id": "0080044",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080044"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080044"
}