{
    "disease_id": "DOID:0060218",
    "recommended_name": {
        "id": "DOID:0060218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060218",
        "name": "CREST syndrome",
        "description": "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0060218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060218",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49452-1",
            "uniprot_ac": "P49452",
            "uniprot_id": "CENPC_MOUSE",
            "refseq_ac": "NP_001332831",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein C",
                    "type": "recommended"
                },
                {
                    "name": "CENP-C 1",
                    "type": "synonym"
                },
                {
                    "name": "CENP-C",
                    "type": "synonym"
                },
                {
                    "name": "Centromere autoantigen C",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein C 1",
                    "type": "synonym"
                },
                {
                    "name": "centromere autoantigen C1",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein C isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpc",
                    "type": "recommended"
                },
                {
                    "name": "CENP-C",
                    "type": "synonym"
                },
                {
                    "name": "Cenpc1",
                    "type": "synonym"
                },
                {
                    "name": "Cenpc",
                    "type": "synonym"
                }
            ],
            "record_id": "P49452-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61554-1",
            "uniprot_ac": "Q61554",
            "uniprot_id": "FBN1_MOUSE",
            "refseq_ac": "NP_032019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tight skin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn1",
                    "type": "recommended"
                },
                {
                    "name": "B430209H23",
                    "type": "synonym"
                },
                {
                    "name": "Fbn-1",
                    "type": "synonym"
                },
                {
                    "name": "Fbn1",
                    "type": "synonym"
                },
                {
                    "name": "Fib-1",
                    "type": "synonym"
                },
                {
                    "name": "Tsk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61554-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35201-1",
            "uniprot_ac": "P35201",
            "uniprot_id": "CENPC_YEAST",
            "refseq_ac": "NP_012834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner kinetochore subunit MIF2",
                    "type": "recommended"
                },
                {
                    "name": "CENP-C homolog",
                    "type": "synonym"
                },
                {
                    "name": "Constitutive centromere-associated network protein MIF2",
                    "type": "synonym"
                },
                {
                    "name": "Mif2p",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic fidelity of chromosome transmission protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIF2",
                    "type": "recommended"
                },
                {
                    "name": "MIF2",
                    "type": "synonym"
                }
            ],
            "record_id": "P35201-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9M6-1",
            "uniprot_ac": "G3V9M6",
            "uniprot_id": "G3V9M6_RAT",
            "refseq_ac": "NP_114013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn1",
                    "type": "recommended"
                },
                {
                    "name": "Fbn1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9M6-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PSW8-1",
            "uniprot_ac": "E9PSW8",
            "uniprot_id": "E9PSW8_RAT",
            "refseq_ac": "NP_001004098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein C",
                    "type": "recommended"
                },
                {
                    "name": "Centromere autoantigen C",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein C 1",
                    "type": "synonym"
                },
                {
                    "name": "centromere autoantigen C",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein C1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cenpc",
                    "type": "recommended"
                },
                {
                    "name": "Cenpc1",
                    "type": "synonym"
                },
                {
                    "name": "Cenpc",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PSW8-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35555-1",
            "uniprot_ac": "P35555",
            "uniprot_id": "FBN1_HUMAN",
            "refseq_ac": "NP_000129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "asprosin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin 15",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN1",
                    "type": "recommended"
                },
                {
                    "name": "ACMICD",
                    "type": "synonym"
                },
                {
                    "name": "ECTOL1",
                    "type": "synonym"
                },
                {
                    "name": "FBN1",
                    "type": "synonym"
                },
                {
                    "name": "FBN",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD2",
                    "type": "synonym"
                },
                {
                    "name": "MASS",
                    "type": "synonym"
                },
                {
                    "name": "MFLS",
                    "type": "synonym"
                },
                {
                    "name": "MFS1",
                    "type": "synonym"
                },
                {
                    "name": "OCTD",
                    "type": "synonym"
                },
                {
                    "name": "SGS",
                    "type": "synonym"
                },
                {
                    "name": "SSKS",
                    "type": "synonym"
                },
                {
                    "name": "WMS2",
                    "type": "synonym"
                },
                {
                    "name": "WMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P35555-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03188-1",
            "uniprot_ac": "Q03188",
            "uniprot_id": "CENPC_HUMAN",
            "refseq_ac": "NP_001803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centromere protein C",
                    "type": "recommended"
                },
                {
                    "name": "CENP-C 1",
                    "type": "synonym"
                },
                {
                    "name": "CENP-C",
                    "type": "synonym"
                },
                {
                    "name": "Centromere autoantigen C",
                    "type": "synonym"
                },
                {
                    "name": "Centromere protein C 1",
                    "type": "synonym"
                },
                {
                    "name": "Interphase centromere complex protein 7",
                    "type": "synonym"
                },
                {
                    "name": "centromere autoantigen C1",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein C 1",
                    "type": "synonym"
                },
                {
                    "name": "centromere protein C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "interphase centromere complex protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CENPC",
                    "type": "recommended"
                },
                {
                    "name": "CENP-C",
                    "type": "synonym"
                },
                {
                    "name": "CENPC1",
                    "type": "synonym"
                },
                {
                    "name": "CENPC",
                    "type": "synonym"
                },
                {
                    "name": "ICEN7",
                    "type": "synonym"
                },
                {
                    "name": "MIF2",
                    "type": "synonym"
                },
                {
                    "name": "hcp-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03188-1",
            "evidence": [
                {
                    "id": "0060218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060218"
}