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Disease	Synonyms	Description	Articles
autosomal recessive nonsyndromic deafness 51	autosomal recessive deafness 51; DFNB51	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. [-]
autosomal recessive nonsyndromic deafness 53	autosomal recessive deafness 53; DFNB53	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. [-]
autosomal recessive nonsyndromic deafness 55	autosomal recessive deafness 55; DFNB55	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. [-]
autosomal recessive nonsyndromic deafness 59	autosomal recessive deafness 59; DFNB59	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. [-]
autosomal recessive nonsyndromic deafness 6	autosomal recessive deafness 6; DFNB6	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. [-]
autosomal recessive nonsyndromic deafness 61	autosomal recessive deafness 61; DFNB61	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. [-]
autosomal recessive nonsyndromic deafness 62	autosomal recessive deafness 62; DFNB62	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. [-]
autosomal recessive nonsyndromic deafness 63	autosomal recessive deafness 63; DFNB63	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. [-]
autosomal recessive nonsyndromic deafness 65	autosomal recessive deafness 65; DFNB65	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. [-]
autosomal recessive nonsyndromic deafness 66	autosomal recessive deafness 66; DFNB66	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. [-]
autosomal recessive nonsyndromic deafness 67	autosomal recessive deafness 67; DFNB67	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. [-]
autosomal recessive nonsyndromic deafness 68	autosomal recessive deafness 68; DFNB68	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. [-]
autosomal recessive nonsyndromic deafness 7	autosomal recessive deafness 7; DFNB11; DFNB7	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. [-]
autosomal recessive nonsyndromic deafness 70	autosomal recessive deafness 70; DFNB70	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. [-]
autosomal recessive nonsyndromic deafness 71	autosomal recessive deafness 71; DFNB71	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. [-]
autosomal recessive nonsyndromic deafness 74	autosomal recessive deafness 74; DFNB74	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. [-]
autosomal recessive nonsyndromic deafness 76	autosomal recessive deafness 76; DFNB76	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 77	autosomal recessive deafness 77; DFNB77	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. [-]
autosomal recessive nonsyndromic deafness 79	autosomal recessive deafness 79; DFNB79	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. [-]
autosomal recessive nonsyndromic deafness 8	autosomal recessive deafness 10; autosomal recessi.. [+] autosomal recessive deafness 10; autosomal recessive deafness 8; childhood-onset neurosensory autosomal recessive deafness 8; DFNB10; neurosensory nonsyndromic recessive deafness 8; NRSD8; DFNB8 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. [-]	2 articles
autosomal recessive nonsyndromic deafness 83	autosomal recessive deafness 83; DFNB83	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. [-]
autosomal recessive nonsyndromic deafness 84A	autosomal recessive deafness 84A with vestibular d.. [+] autosomal recessive deafness 84A with vestibular dysfunction; autosomal recessive deafness 84A; DFNB84A [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. [-]
autosomal recessive nonsyndromic deafness 84B	autosomal recessive deafness 84B; DFNB84B	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. [-]
autosomal recessive nonsyndromic deafness 85	autosomal recessive deafness 85; DFNB85	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. [-]
autosomal recessive nonsyndromic deafness 86	autosomal recessive deafness 86; DFNB86	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. [-]
autosomal recessive nonsyndromic deafness 88	autosomal recessive deafness 88; DFNB88	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. [-]
autosomal recessive nonsyndromic deafness 89	autosomal recessive deafness 89; DFNB89	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. [-]
autosomal recessive nonsyndromic deafness 9	autosomal recessive deafness 9; DFNB9; NRSD9; neur.. [+] autosomal recessive deafness 9; DFNB9; NRSD9; neurosensory nonsyndromic recessive deafness 9 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. [-]
autosomal recessive nonsyndromic deafness 91	autosomal recessive deafness 91; DFNB91	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. [-]
autosomal recessive nonsyndromic deafness 93	autosomal recessive deafness 93; DFNB93	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. [-]
autosomal recessive nonsyndromic deafness 96	autosomal recessive deafness 96; DFNB96	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. [-]
autosomal recessive nonsyndromic deafness 97	autosomal recessive deafness 97; DFNB97	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. [-]
autosomal recessive nonsyndromic deafness 98	autosomal recessive deafness 98; DFNB98	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. [-]
autosomal dominant nonsyndromic deafness 1	autosomal dominant deafness 1, with or without thr.. [+] autosomal dominant deafness 1, with or without thrombocytopenia; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; Konigsmark syndrome; LFHL1 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
autosomal dominant nonsyndromic deafness 10	autosomal dominant deafness 10; DFNA10	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. [-]
autosomal dominant nonsyndromic deafness 11	autosomal dominant deafness 11; DFNA11	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. [-]
autosomal dominant nonsyndromic deafness 12	autosomal dominant deafness 8; autosomal dominant .. [+] autosomal dominant deafness 8; autosomal dominant deafness 12; DFNA12; DFNA8 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. [-]
autosomal dominant nonsyndromic deafness 13	autosomal dominant deafness 13; DFNA13	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. [-]
autosomal dominant nonsyndromic deafness 15	autosomal dominant deafness 15; DFNA15	An autosomal dominant nonsyndromic deafness that i..[+] 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 POU4F3 gene on chromosome 5q32. [-]
autosomal dominant nonsyndromic deafness 16	autosomal dominant deafness 16; DFNA16	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. [-]
autosomal dominant nonsyndromic deafness 17	autosomal dominant deafness 17; DFNA17	An autosomal dominant nonsyndromic deafness that i..[+] 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. [-]
autosomal dominant nonsyndromic deafness 18	autosomal dominant deafness 18; DFNA18	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. [-]
autosomal dominant nonsyndromic deafness 20	autosomal dominant deafness 20; DFNA20; DFNA26	An autosomal dominant nonsyndromic deafness that i..[+] 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 ACTG1 gene on chromosome 17q25. [-]
autosomal dominant nonsyndromic deafness 21	autosomal dominant deafness 21; DFNA21	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. [-]
autosomal dominant nonsyndromic deafness 22	autosomal dominant deafness 22; DFNA22	An autosomal dominant nonsyndromic deafness that i..[+] 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 MYO6 gene on chromosome 6q14. [-]
autosomal dominant nonsyndromic deafness 23	autosomal dominant deafness 23; DFNA23	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. [-]
autosomal dominant nonsyndromic deafness 24	autosomal dominant deafness 24; DFNA24	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. [-]
autosomal dominant nonsyndromic deafness 25	autosomal dominant deafness 25; DFNA25	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. [-]
autosomal dominant nonsyndromic deafness 27	autosomal dominant deafness 27; DFNA27	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. [-]
autosomal dominant nonsyndromic deafness 28	autosomal dominant deafness 28; DFNA28	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. [-]