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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "neurosensory nonsyndromic recessive deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            },
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "O43511-1"
            },
            {
                "evidence": [
                    {
                        "id": "O43511",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O43511"
                    },
                    {
                        "id": "rs121908363",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908363"
                    },
                    {
                        "id": "rs121908363",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908363"
                    },
                    {
                        "id": "rs121908363",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908363#frequency_tab"
                    },
                    {
                        "id": "rs121908363",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908363"
                    },
                    {
                        "id": "10190331",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10190331"
                    },
                    {
                        "id": "14508505",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/14508505"
                    },
                    {
                        "id": "rs121908363",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908363"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 721,
                "end_pos": 721,
                "subjects_tested": "320",
                "subjects_positive": "1",
                "frequency": "0.3",
                "sequence_org": "T",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "7",
                "chr_pos": "107710126",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "T721",
                "disease": [
                    {
                        "disease_id": "DOID:4362",
                        "recommended_name": {
                            "id": "DOID:4362",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4362",
                            "name": "cervical cancer",
                            "description": "A female reproductive organ cancer that is located_in the cervix."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "cervix uteri cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "neoplasm of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "tumor of the Cervix Uteri",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "uterine cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the cervix."
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cancer of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
                                "name": "Cervical cancer",
                                "description": "Cervical cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "4362",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4362"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
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                            {
                                "id": "MIM:114500",
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                            {
                                "id": "DOID:0110498",
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                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
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                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
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                            },
                            {
                                "id": "MONDO:0010933",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
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                            {
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                                "resource": "MONDO",
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                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
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                                "id": "MONDO:0010933",
                                "resource": "MONDO",
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                            {
                                "id": "0110498",
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                                "id": "DOID:0060744",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010134",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010134",
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                            {
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                            {
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        "title": "Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.",
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                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            },
                            {
                                "id": "MONDO:0010933",
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                            },
                            {
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
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                                "name": "neurosensory nonsyndromic recessive deafness 4",
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                            },
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                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
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                            },
                            {
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                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:0060744",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060744",
                            "name": "Pendred Syndrome",
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                        },
                        "synonyms": [
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                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "deafness with goiter",
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                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "Pendred syndrome",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
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                                "name": "deafness with goiter",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goitre",
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                            },
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                                "id": "MONDO:0010134",
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                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
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                            },
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                                "name": "thyroid dyshormonogenesis 2B",
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                            },
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                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "thyroid hormonogenesis, genetic defect in, 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "PDS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "autosomal recessive sensorineural hearing impairment and goiter",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "autosomal recessive sensorineural hearing impairment and goitre",
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                            },
                            {
                                "id": "MIM:274600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/274600",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome"
                            }
                        ],
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                            },
                            {
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                        ]
                    },
                    {
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                            "id": "DOID:384",
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                        },
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                            },
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                                "resource": "Disease Ontology",
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                                "name": "Wolff-Parkinson-White pattern",
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                            },
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                                "url": "https://disease-ontology.org/term/DOID:384",
                                "name": "anomalous atrioventricular excitation",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
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                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-White pattern (finding)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-White syndrome",
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                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-white syndrome (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "ventricular familial preexcitation syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:194200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/194200",
                                "name": "Wolff-Parkinson-White syndrome",
                                "description": "Wolff-Parkinson-White syndrome"
                            }
                        ],
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                        "evidence": [
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                                "id": "384",
                                "database": "AGR",
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                            }
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    {
        "title": "Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.",
        "journal": "Journal of medical genetics",
        "date": "2003",
        "authors": "Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ",
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    {
        "title": "Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.",
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            },
                            {
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                            {
                                "id": "MONDO:0010933",
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                                "name": "enlarged vestibular aqueduct, digenic",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            },
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                            },
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                            },
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                                "name": "deafness with goiter",
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    {
        "title": "Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.",
        "journal": "European journal of human genetics : EJHG",
        "date": "2003",
        "authors": "Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S",
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                "glycoeffect": [
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                "sequence_org": "T",
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                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "7",
                "chr_pos": "107710126",
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                "minor_allelic_frequency": "",
                "site_lbl": "T721",
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                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
                                "name": "Cervical cancer",
                                "description": "Cervical cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "4362",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4362"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110498",
                        "recommended_name": {
                            "id": "DOID:0110498",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110498",
                            "name": "autosomal recessive nonsyndromic deafness 4",
                            "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "neurosensory nonsyndromic recessive deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            },
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060744",
                        "recommended_name": {
                            "id": "DOID:0060744",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060744",
                            "name": "Pendred Syndrome",
                            "description": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "thyroid dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
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    {
        "title": "Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.",
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        "authors": "Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S",
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    {
        "title": "Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.",
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        "title": "Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.",
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        "authors": "Park H-J, Lee S-J, Jin H-S, Lee J O, Go S-H, Jang H S, Moon S-K, Lee S-C, Chun Y-M, Lee H-K, Choi J-Y, Jung S-C, Griffith A J, Koo S K",
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    {
        "title": "SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.",
        "journal": "Journal of medical genetics",
        "date": "2005",
        "authors": "Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ",
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                            },
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                                "name": "genetic defect in thyroid hormonogenesis 2B",
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                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
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                            },
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                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
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                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            },
                            {
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    {
        "title": "Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.",
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        "authors": "Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J",
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    {
        "title": "Temporal bone imaging in GJB2 deafness.",
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        "authors": "Propst Evan J, Blaser Susan, Stockley Tracy L, Harrison Robert V, Gordon Karen A, Papsin Blake C",
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        "title": "Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).",
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                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
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                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
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                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
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                                "id": "MONDO:0008685",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
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        "title": "A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.",
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        "authors": "Wang Q-J, Zhao Y-L, Rao S-Q, Guo Y-F, Yuan H, Zong L, Guan J, Xu B-C, Wang D-Y, Han M-K, Lan L, Zhai S-Q, Shen Y",
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    {
        "title": "Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.",
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        "authors": "Palos Fernando, Garc\u00eda-Rendueles Mar\u00eda E R, Araujo-Vilar David, Obregon Maria Jes\u00fas, Calvo Rosa Maria, Cameselle-Teijeiro Jose, Bravo Susana B, Perez-Guerra Oscar, Loidi Lourdes, Czarnocka Barbara, Alvarez Paula, Refetoff Samuel, Dominguez-Gerpe Lourdes, Alvarez Clara V, Lado-Abeal Joaquin",
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                            {
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                            },
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                                "id": "DOID:0060744",
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                            {
                                "id": "DOID:0060744",
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                                "id": "DOID:0060744",
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                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
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                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "neurosensory nonsyndromic recessive deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
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                            {
                                "id": "0110498",
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                            },
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060744",
                        "recommended_name": {
                            "id": "DOID:0060744",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060744",
                            "name": "Pendred Syndrome",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "thyroid dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goitre",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "thyroid dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "thyroid hormonogenesis, genetic defect in, 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "PDS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "autosomal recessive sensorineural hearing impairment and goiter",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "autosomal recessive sensorineural hearing impairment and goitre",
                                "description": ""
                            },
                            {
                                "id": "MIM:274600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/274600",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0060744",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0060744"
                            },
                            {
                                "id": "0060744",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060744"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:384",
                        "recommended_name": {
                            "id": "DOID:384",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:384",
                            "name": "Wolff-Parkinson-White syndrome",
                            "description": ""
                        },
                        "synonyms": [
                            {
                                "id": "DOID:384",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:384",
                                "name": "Anomalous A-V excitation",
                                "description": ""
                            },
                            {
                                "id": "DOID:384",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:384",
                                "name": "Wolff-Parkinson-White pattern",
                                "description": ""
                            },
                            {
                                "id": "DOID:384",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:384",
                                "name": "anomalous atrioventricular excitation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-White syndrome",
                                "description": "A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes."
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "WPW",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-White pattern (finding)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-White syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "Wolff-Parkinson-white syndrome (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008685",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008685",
                                "name": "ventricular familial preexcitation syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:194200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/194200",
                                "name": "Wolff-Parkinson-White syndrome",
                                "description": "Wolff-Parkinson-White syndrome"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "384",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:384"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
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                    "disease"
                ],
                "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "O43511-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121908366",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs121908366",
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                        "url": "https://www.ensembl.org/id/rs121908366"
                    },
                    {
                        "id": "18285825",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18285825"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 514,
                "end_pos": 514,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.",
                "chr_id": "7",
                "chr_pos": "107696035",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q514",
                "disease": [
                    {
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                        "recommended_name": {
                            "id": "DOID:0110498",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110498",
                            "name": "autosomal recessive nonsyndromic deafness 4",
                            "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."
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                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "neurosensory nonsyndromic recessive deafness 4",
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                            },
                            {
                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
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                            {
                                "id": "0110498",
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                    {
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                            "id": "DOID:0060744",
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                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "deafness with goiter",
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                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "thyroid dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goitre",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "thyroid dyshormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "thyroid hormonogenesis, genetic defect in, 2B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "PDS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "autosomal recessive sensorineural hearing impairment and goiter",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
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                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
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                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
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                                "id": "DOID:0060744",
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                            {
                                "id": "DOID:0060744",
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                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
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                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
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                                "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B",
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                            },
                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0010134",
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                                "url": "https://www.omim.org/entry/274600",
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                            {
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                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            {
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                            {
                                "id": "MONDO:0010933",
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                            {
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                                "id": "DOID:0060744",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
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                                "id": "MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
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                                "id": "MONDO:0010134",
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                            {
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                            {
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                        },
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                                "id": "DOID:0060744",
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                            {
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                            },
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "congenital hypothyroidism due to dyshormonogenesis 2B",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
                                "name": "Pendred syndrome",
                                "description": ""
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                                "id": "MONDO:0010134",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                            {
                                "id": "MONDO:0010134",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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                                "description": ""
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010134",
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        ]
    },
    {
        "title": "Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?",
        "journal": "Human mutation",
        "date": "2009",
        "authors": "Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ",
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        ],
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                    },
                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs111033212#frequency_tab"
                    },
                    {
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                "ref_nt": "C",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
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                            {
                                "id": "MONDO:0010933",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            {
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                                "id": "MONDO:0010933",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110498",
                        "recommended_name": {
                            "id": "DOID:0110498",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110498",
                            "name": "autosomal recessive nonsyndromic deafness 4",
                            "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110498",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110498",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic hearing loss 4",
                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "enlarged vestibular aqueduct, digenic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "DFNB4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "autosomal recessive nonsyndromic deafness type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010933",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
                                "name": "neurosensory nonsyndromic recessive deafness 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:600791",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/600791",
                                "name": "Deafness, autosomal recessive, 4",
                                "description": "Deafness, autosomal recessive, 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            },
                            {
                                "id": "0110498",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110498"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050565",
                        "recommended_name": {
                            "id": "DOID:0050565",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050565",
                            "name": "autosomal recessive nonsyndromic deafness",
                            "description": "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "autosomal recessive nonsyndromic hearing loss 1A",
                                "description": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction."
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "autosomal recessive nonsyndromic hearing loss 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "DFNB1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "DFNB1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "GJB2-related deafness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "autosomal recessive deafness 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "autosomal recessive nonsyndromic deafness 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "autosomal recessive nonsyndromic deafness type 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "connexin 26 deafness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness nonsyndromic, connexin 26 linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, autosomal recessive 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, autosomal recessive type 1A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, digenic, GJB2/GJB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009076",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009076",
                                "name": "deafness, digenic, GJB2/GJB6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "hearing loss, autosomal recessive",
                                "description": "Autosomal recessive form of nonsyndromic deafness."
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "hearing loss, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive isolated neurosensory deafness type DFNB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive isolated sensorineural deafness type DFNB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive non-syndromic neurosensory deafness type DFNB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive non-syndromic sensorineural deafness type DFNB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive nonsyndromic deafness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "autosomal recessive nonsyndromic genetic deafness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "deafness, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "deafness, neurosensory nonsyndromic recessive, DFN",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "nonsyndromic deafness, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019588",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019588",
                                "name": "nonsyndromic genetic deafness, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MIM:220290",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/220290",
                                "name": "Deafness, autosomal recessive, 1A",
                                "description": "Deafness, autosomal recessive, 1A"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0050565",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050565"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060744",
                        "recommended_name": {
                            "id": "DOID:0060744",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060744",
                            "name": "Pendred Syndrome",
                            "description": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "TDH2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "deafness with goiter",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "genetic defect in thyroid hormonogenesis 2B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060744",
                                "name": "goiter-deafness syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060744",
                                "resource": "Disease Ontology",
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        "title": "[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].",
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        "title": "Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010933",
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                                "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
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        "title": "Two frequent missense mutations in Pendred syndrome.",
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        "authors": "Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G",
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                                "url": "https://disease-ontology.org/term/DOID:0060744",
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                            },
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                                "resource": "MONDO",
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                                "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter."
                            },
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