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Disease	Synonyms	Description
autosomal recessive nonsyndromic deafness 38	DFNB38; autosomal recessive deafness 38	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. [-]
autosomal recessive nonsyndromic deafness 39	DFNB39; autosomal recessive deafness 39	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. [-]
autosomal recessive nonsyndromic deafness 4	DFNB4; autosomal recessive deafness 4 with enlarge.. [+] DFNB4; autosomal recessive deafness 4 with enlarged vestibular aqueduct [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. [-]
autosomal recessive nonsyndromic deafness 40	DFNB40; autosomal recessive deafness 40	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. [-]
autosomal recessive nonsyndromic deafness 42	DFNB42; autosomal recessive deafness 42	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. [-]
autosomal recessive nonsyndromic deafness 44	DFNB44; autosomal recessive deafness 44	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. [-]
autosomal recessive nonsyndromic deafness 45	DFNB45; autosomal recessive deafness 45	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. [-]
autosomal recessive nonsyndromic deafness 46	DFNB46; autosomal recessive deafness 46	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. [-]
autosomal recessive nonsyndromic deafness 47	DFNB47; autosomal recessive deafness 47	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. [-]
autosomal recessive nonsyndromic deafness 48	DFNB48; autosomal recessive deafness 48	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. [-]
autosomal recessive nonsyndromic deafness 49	DFNB49; autosomal recessive deafness 49	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. [-]
autosomal recessive nonsyndromic deafness 5	DFNB5; autosomal recessive deafness 5	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. [-]
autosomal recessive nonsyndromic deafness 51	DFNB51; autosomal recessive deafness 51	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	DFNB53; autosomal recessive deafness 53	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	DFNB55; autosomal recessive deafness 55	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	DFNB59; autosomal recessive deafness 59	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	DFNB6; autosomal recessive deafness 6	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	DFNB61; autosomal recessive deafness 61	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	DFNB62; autosomal recessive deafness 62	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	DFNB63; autosomal recessive deafness 63	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	DFNB65; autosomal recessive deafness 65	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	DFNB66; autosomal recessive deafness 66	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	DFNB67; autosomal recessive deafness 67	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	DFNB68; autosomal recessive deafness 68	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	DFNB7; DFNB11; autosomal recessive deafness 7	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	DFNB70; autosomal recessive deafness 70	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	DFNB71; autosomal recessive deafness 71	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	DFNB74; autosomal recessive deafness 74	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	DFNB76; autosomal recessive deafness 76	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	DFNB77; autosomal recessive deafness 77	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	DFNB79; autosomal recessive deafness 79	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	DFNB10; DFNB8; autosomal recessive deafness 10; au.. [+] DFNB8; DFNB10; autosomal recessive deafness 10; autosomal recessive deafness 8; childhood-onset neurosensory autosomal recessive deafness 8; neurosensory nonsyndromic recessive deafness 8; NRSD8 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. [-]
autosomal recessive nonsyndromic deafness 83	DFNB83; autosomal recessive deafness 83	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	DFNB84A; autosomal recessive deafness 84A; autosom.. [+] DFNB84A; autosomal recessive deafness 84A; autosomal recessive deafness 84A with vestibular dysfunction [-]	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	DFNB84B; autosomal recessive deafness 84B	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	DFNB85; autosomal recessive deafness 85	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	DFNB86; autosomal recessive deafness 86	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	DFNB88; autosomal recessive deafness 88	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	DFNB89; autosomal recessive deafness 89	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	DFNB9; autosomal recessive deafness 9; neurosensor.. [+] DFNB9; autosomal recessive deafness 9; neurosensory nonsyndromic recessive deafness 9; NRSD9 [-]	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	DFNB91; autosomal recessive deafness 91	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	DFNB93; autosomal recessive deafness 93	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	DFNB96; autosomal recessive deafness 96	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	DFNB97; autosomal recessive deafness 97	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	DFNB98; autosomal recessive deafness 98	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	DFNA1; autosomal dominant deafness 1; hereditary l.. [+] DFNA1; autosomal dominant deafness 1; hereditary low frequency hearing loss 1; Konigsmark syndrome; LFHL1; autosomal dominant deafness 1, with or without thrombocytopenia [-]	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	DFNA10; autosomal dominant deafness 10	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	DFNA11; autosomal dominant deafness 11	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	DFNA12; DFNA8; autosomal dominant deafness 12; aut.. [+] DFNA8; DFNA12; autosomal dominant deafness 12; autosomal dominant deafness 8 [-]	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	DFNA13; autosomal dominant deafness 13	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. [-]