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"https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0110548", "recommended_name": { "id": "DOID:0110548", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110548", "name": "autosomal dominant nonsyndromic deafness 17", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110548", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110548", "name": "DFNA17", "description": "" }, { "id": "DOID:0110548", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110548", "name": "autosomal dominant deafness 17", "description": "" }, { "id": "MONDO:0011350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011350", "name": "autosomal dominant nonsyndromic 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011350", "name": "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration", "description": "" }, { "id": "MIM:603622", "resource": "MIM", "url": "https://www.omim.org/entry/603622", "name": "Deafness, autosomal dominant, 17", "description": "Deafness, autosomal dominant, 17" } ], "unlinked_id_list": [], "evidence": [ { "id": "603622", "database": "MIM", "url": "https://www.omim.org/entry/603622" }, { "id": "0110548", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110548" } ] }, { "disease_id": "DOID:0060651", "recommended_name": { "id": "DOID:0060651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060651", "name": "MYH-9 related disease", "description": "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract." }, "synonyms": [ { "id": "MONDO:0015912", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015912", "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "description": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). 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"https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:0110548", "recommended_name": { "id": "DOID:0110548", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110548", "name": "autosomal dominant nonsyndromic deafness 17", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12." }, "synonyms": [ { "id": "DOID:0110548", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110548", "name": "DFNA17", 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It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract." }, "synonyms": [ { "id": "MONDO:0015912", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015912", "name": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss", "description": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). 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