{
    "disease_id": "DOID:0080047",
    "recommended_name": {
        "id": "DOID:0080047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080047",
        "name": "pseudoachondroplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism."
    },
    "synonyms": [
        {
            "id": "DOID:0080047",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080047",
            "name": "pseudoachondroplastic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0080047",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080047",
            "name": "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "pseudoachondroplasia",
            "description": "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis."
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "Pseudoachondroplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "Pseudoachondroplastic spondyloepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "pseudoachondroplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "pseudoachondroplastic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "PSACH",
            "description": ""
        },
        {
            "id": "MONDO:0008322",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "name": "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome",
            "description": ""
        },
        {
            "id": "MIM:177170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/177170",
            "name": "Pseudoachondroplasia",
            "description": "Pseudoachondroplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080047"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080047",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080047",
            "categories": []
        },
        {
            "id": "MONDO:0008322",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008322",
            "categories": []
        },
        {
            "id": "MIM:177170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/177170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KDJ5-1",
            "uniprot_ac": "A0A0G2KDJ5",
            "uniprot_id": "A0A0G2KDJ5_DANRE",
            "refseq_ac": "NP_001313279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage oligomeric matrix protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cartilage oligomeric matrix protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "comp",
                    "type": "recommended"
                },
                {
                    "name": "Tsp-4b",
                    "type": "synonym"
                },
                {
                    "name": "comp",
                    "type": "synonym"
                },
                {
                    "name": "im:7154332",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-43f4.1",
                    "type": "synonym"
                },
                {
                    "name": "thbs5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb78h09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KDJ5-1",
            "evidence": [
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0G6-1",
            "uniprot_ac": "Q9R0G6",
            "uniprot_id": "COMP_MOUSE",
            "refseq_ac": "NP_057894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage oligomeric matrix protein",
                    "type": "recommended"
                },
                {
                    "name": "COMP",
                    "type": "synonym"
                },
                {
                    "name": "cartilage oligomeric matrix protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Comp",
                    "type": "recommended"
                },
                {
                    "name": "Comp",
                    "type": "synonym"
                },
                {
                    "name": "TSP5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0G6-1",
            "evidence": [
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49747-1",
            "uniprot_ac": "P49747",
            "uniprot_id": "COMP_HUMAN",
            "refseq_ac": "NP_000086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage oligomeric matrix protein",
                    "type": "recommended"
                },
                {
                    "name": "COMP",
                    "type": "synonym"
                },
                {
                    "name": "TSP5",
                    "type": "synonym"
                },
                {
                    "name": "Thrombospondin-5",
                    "type": "synonym"
                },
                {
                    "name": "cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)",
                    "type": "synonym"
                },
                {
                    "name": "cartilage oligomeric matrix protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "multiple epiphyseal dysplasia",
                    "type": "synonym"
                },
                {
                    "name": "pseudoachondroplasia (epiphyseal dysplasia 1, multiple)",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COMP",
                    "type": "recommended"
                },
                {
                    "name": "COMP",
                    "type": "synonym"
                },
                {
                    "name": "CTS2",
                    "type": "synonym"
                },
                {
                    "name": "EDM1",
                    "type": "synonym"
                },
                {
                    "name": "EPD1",
                    "type": "synonym"
                },
                {
                    "name": "MED",
                    "type": "synonym"
                },
                {
                    "name": "PSACH",
                    "type": "synonym"
                },
                {
                    "name": "THBS5",
                    "type": "synonym"
                },
                {
                    "name": "TSP-5",
                    "type": "synonym"
                },
                {
                    "name": "TSP5",
                    "type": "synonym"
                }
            ],
            "record_id": "P49747-1",
            "evidence": [
                {
                    "id": "177170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/177170"
                },
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35444-1",
            "uniprot_ac": "P35444",
            "uniprot_id": "COMP_RAT",
            "refseq_ac": "NP_036966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cartilage oligomeric matrix protein",
                    "type": "recommended"
                },
                {
                    "name": "COMP",
                    "type": "synonym"
                },
                {
                    "name": "cartilage oligomeric matrix protein precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Comp",
                    "type": "recommended"
                },
                {
                    "name": "Comp",
                    "type": "synonym"
                }
            ],
            "record_id": "P35444-1",
            "evidence": [
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM97-1",
            "uniprot_ac": "Q9VM97",
            "uniprot_id": "Q9VM97_DROME",
            "refseq_ac": "NP_001137802",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11326-PF",
                    "type": "synonym"
                },
                {
                    "name": "Thrombospondin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Thrombospondin, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Tsp-PF",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp",
                    "type": "recommended"
                },
                {
                    "name": "CG11326",
                    "type": "synonym"
                },
                {
                    "name": "CT31613",
                    "type": "synonym"
                },
                {
                    "name": "D-TSP",
                    "type": "synonym"
                },
                {
                    "name": "DTSP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11326",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11326",
                    "type": "synonym"
                },
                {
                    "name": "SP295",
                    "type": "synonym"
                },
                {
                    "name": "TSP",
                    "type": "synonym"
                },
                {
                    "name": "Tsp",
                    "type": "synonym"
                },
                {
                    "name": "tsp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM97-1",
            "evidence": [
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43513-1",
            "uniprot_ac": "O43513",
            "uniprot_id": "MED7_HUMAN",
            "refseq_ac": "NP_001094286",
            "glycoprotein": "no",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "ARC34",
                    "type": "synonym"
                },
                {
                    "name": "Activator-recruited cofactor 34 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "CRSP complex subunit 9",
                    "type": "synonym"
                },
                {
                    "name": "Cofactor required for Sp1 transcriptional activation subunit 9",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase transcriptional regulation mediator subunit 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional coactivator CRSP33",
                    "type": "synonym"
                },
                {
                    "name": "activator-recruited cofactor 34 kDa component",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation subunit 9",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 9 (33kD)",
                    "type": "synonym"
                },
                {
                    "name": "cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa",
                    "type": "synonym"
                },
                {
                    "name": "hMED7",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional coactivator CRSP33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MED7",
                    "type": "recommended"
                },
                {
                    "name": "ARC34",
                    "type": "synonym"
                },
                {
                    "name": "CRSP33",
                    "type": "synonym"
                },
                {
                    "name": "CRSP9",
                    "type": "synonym"
                },
                {
                    "name": "MED7",
                    "type": "synonym"
                }
            ],
            "record_id": "O43513-1",
            "evidence": [
                {
                    "id": "0080047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080047"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080047"
}