{
    "disease_id": "DOID:0050463",
    "recommended_name": {
        "id": "DOID:0050463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050463",
        "name": "campomelic dysplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles."
    },
    "synonyms": [
        {
            "id": "DOID:0050463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050463",
            "name": "Acampomelic Campomelic Dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dysplasia",
            "description": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)."
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "CMD",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "Campomelic Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "campomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "acampomelic campomelic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "name": "CMPD1",
            "description": ""
        },
        {
            "id": "MIM:114290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/114290",
            "name": "Campomelic dysplasia",
            "description": "Campomelic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050463"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050463",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050463",
            "categories": []
        },
        {
            "id": "MONDO:0007251",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007251",
            "categories": []
        },
        {
            "id": "MIM:114290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/114290",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DFH2-1",
            "uniprot_ac": "Q9DFH2",
            "uniprot_id": "Q9DFH2_DANRE",
            "refseq_ac": "NP_571718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SRY (sex determining region Y)-box 9a",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 9a",
                    "type": "synonym"
                },
                {
                    "name": "SRY-like",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor SOX-9a",
                    "type": "synonym"
                },
                {
                    "name": "involved in chondrogenesis and testis-determination",
                    "type": "synonym"
                },
                {
                    "name": "jellyfish",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-9a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox9a",
                    "type": "recommended"
                },
                {
                    "name": "jef",
                    "type": "synonym"
                },
                {
                    "name": "sox9a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj17b12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:111921",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DFH2-1",
            "evidence": [
                {
                    "id": "0050463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04887-1",
            "uniprot_ac": "Q04887",
            "uniprot_id": "SOX9_MOUSE",
            "refseq_ac": "NP_035578",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-9",
                    "type": "recommended"
                },
                {
                    "name": "SRY-box containing gene 9",
                    "type": "synonym"
                },
                {
                    "name": "mSox9",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox9",
                    "type": "recommended"
                },
                {
                    "name": "2010306G03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sox-9",
                    "type": "synonym"
                },
                {
                    "name": "Sox9",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4243",
                    "type": "synonym"
                },
                {
                    "name": "mSox9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04887-1",
            "evidence": [
                {
                    "id": "0050463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48436-1",
            "uniprot_ac": "P48436",
            "uniprot_id": "SOX9_HUMAN",
            "refseq_ac": "NP_000337",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-9",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box9",
                    "type": "synonym"
                },
                {
                    "name": "SRY (sex-determining region Y)-box 9 protein",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 9",
                    "type": "synonym"
                },
                {
                    "name": "SRY-related HMG-box, gene 9",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX9",
                    "type": "recommended"
                },
                {
                    "name": "CMD1",
                    "type": "synonym"
                },
                {
                    "name": "CMPD1",
                    "type": "synonym"
                },
                {
                    "name": "ENH13",
                    "type": "synonym"
                },
                {
                    "name": "SOX9",
                    "type": "synonym"
                },
                {
                    "name": "SRA1",
                    "type": "synonym"
                },
                {
                    "name": "SRXX2",
                    "type": "synonym"
                },
                {
                    "name": "SRXY10",
                    "type": "synonym"
                },
                {
                    "name": "TESCO",
                    "type": "synonym"
                }
            ],
            "record_id": "P48436-1",
            "evidence": [
                {
                    "id": "114290",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/114290"
                },
                {
                    "id": "0050463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYL9-1",
            "uniprot_ac": "F1LYL9",
            "uniprot_id": "SOX9_RAT",
            "refseq_ac": "NP_536328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-9",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 9",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 9",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox9",
                    "type": "recommended"
                },
                {
                    "name": "SRY",
                    "type": "synonym"
                },
                {
                    "name": "Sox9",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYL9-1",
            "evidence": [
                {
                    "id": "0050463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VA17-1",
            "uniprot_ac": "Q9VA17",
            "uniprot_id": "Q9VA17_DROME",
            "refseq_ac": "NP_651839",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15552-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox100B",
                    "type": "recommended"
                },
                {
                    "name": "CG12098",
                    "type": "synonym"
                },
                {
                    "name": "CG15552",
                    "type": "synonym"
                },
                {
                    "name": "CG18674",
                    "type": "synonym"
                },
                {
                    "name": "CT6009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15552",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15552",
                    "type": "synonym"
                },
                {
                    "name": "SOX100B",
                    "type": "synonym"
                },
                {
                    "name": "SOXE",
                    "type": "synonym"
                },
                {
                    "name": "Sox100B",
                    "type": "synonym"
                },
                {
                    "name": "Sox100",
                    "type": "synonym"
                },
                {
                    "name": "Sox9",
                    "type": "synonym"
                },
                {
                    "name": "SoxB",
                    "type": "synonym"
                },
                {
                    "name": "dSox9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VA17-1",
            "evidence": [
                {
                    "id": "0050463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050463"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050463"
}