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                                "name": "chondrodystrophia calcificans congenita",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata 1",
                                "description": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "ARSE X-linked chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata caused by mutation in ARSE",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata caused by mutation in arse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "arse X-linked chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "brachytelephalangic chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata, X-linked recessive, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "CDPX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "CPXR",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "arylsulfatase E deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata 1 X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata 1, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata brachytelephalangic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata, brachytelephalangic",
                                "description": ""
                            },
                            {
                                "id": "MIM:302950",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/302950",
                                "name": "Chondrodysplasia punctata 1, X-linked recessive",
                                "description": "Chondrodysplasia punctata 1, X-linked recessive"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0060292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060292"
                            },
                            {
                                "id": "0060292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060292"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P51690-1"
            },
            {
                "evidence": [
                    {
                        "id": "P51690",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51690"
                    },
                    {
                        "id": "rs122460152",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs122460152"
                    },
                    {
                        "id": "rs122460152",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs122460152"
                    },
                    {
                        "id": "7720070",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7720070"
                    },
                    {
                        "id": "rs122460152",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs122460152"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 117,
                "end_pos": 117,
                "subjects_tested": "2670",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, arylsulfatase).",
                "chr_id": "23",
                "chr_pos": "2953224",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "G117",
                "disease": [
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
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                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
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                        "synonyms": [
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:11054",
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                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
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                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060292",
                        "recommended_name": {
                            "id": "DOID:0060292",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060292",
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                            "description": "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060292",
                                "name": "chondrodystrophia calcificans congenita",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata 1",
                                "description": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "ARSE X-linked chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata caused by mutation in ARSE",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "X-linked chondrodysplasia punctata caused by mutation in arse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "arse X-linked chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "brachytelephalangic chondrodysplasia punctata",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "chondrodysplasia punctata, X-linked recessive, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "CDPX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010555",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010555",
                                "name": "CPXR",
                                "description": ""
                            },
                            {
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