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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 15	DFNA15; autosomal dominant deafness 15	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	DFNA16; autosomal dominant deafness 16	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	DFNA17; autosomal dominant deafness 17	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	DFNA18; autosomal dominant deafness 18	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	DFNA26; DFNA20; autosomal dominant deafness 20	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	DFNA21; autosomal dominant deafness 21	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	DFNA22; autosomal dominant deafness 22	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	DFNA23; autosomal dominant deafness 23	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	DFNA24; autosomal dominant deafness 24	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	DFNA25; autosomal dominant deafness 25	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	DFNA27; autosomal dominant deafness 27	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	DFNA28; autosomal dominant deafness 28	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. [-]
autosomal dominant nonsyndromic deafness 2A	DFNA2A; autosomal dominant deafness 2A	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. [-]
autosomal dominant nonsyndromic deafness 2B	DFNA2B; autosomal dominant deafness 2B	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. [-]
autosomal dominant nonsyndromic deafness 30	DFNA30; autosomal dominant deafness 30	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. [-]
autosomal dominant nonsyndromic deafness 31	DFNA31; autosomal dominant deafness 31	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. [-]
autosomal dominant nonsyndromic deafness 33	DFNA33; autosomal dominant deafness 33	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. [-]
autosomal dominant nonsyndromic deafness 36	DFNA36; autosomal dominant deafness 36	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 TMC1 gene on chromosome 9q21. [-]
autosomal dominant nonsyndromic deafness 3A	DFNA3A; autosomal dominant deafness 3A	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. [-]
autosomal dominant nonsyndromic deafness 3B	DFNA3B; autosomal dominant deafness 3B	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. [-]
autosomal dominant nonsyndromic deafness 40	DFNA40; autosomal dominant deafness 40	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. [-]
autosomal dominant nonsyndromic deafness 41	DFNA41; autosomal dominant deafness 41	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in mutation in the P2RX2 gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 43	DFNA43; autosomal dominant deafness 43	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. [-]
autosomal dominant nonsyndromic deafness 44	DFNA44; autosomal dominant deafness 44	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. [-]
autosomal dominant nonsyndromic deafness 47	DFNA47; autosomal dominant deafness 47	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. [-]
autosomal dominant nonsyndromic deafness 48	DFNA48; autosomal dominant deafness 48	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. [-]
autosomal dominant nonsyndromic deafness 49	DFNA49; autosomal dominant deafness 49	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 4A	DFNA4A; autosomal dominant deafness 4A	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. [-]
autosomal dominant nonsyndromic deafness 4B	DFNA4B; autosomal dominant deafness 4B	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal dominant nonsyndromic deafness 5	DFNA5; autosomal dominant deafness 5	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. [-]
autosomal dominant nonsyndromic deafness 50	DFNA50; autosomal dominant deafness 50	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. [-]
autosomal dominant nonsyndromic deafness 51	DFNA51; autosomal dominant deafness 51; chromosome.. [+] DFNA51; autosomal dominant deafness 51; chromosome 9q21.11 duplication syndrome [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. [-]
autosomal dominant nonsyndromic deafness 52	DFNA52; autosomal dominant deafness 52	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. [-]
autosomal dominant nonsyndromic deafness 53	DFNA53; autosomal dominant deafness 53	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. [-]
autosomal dominant nonsyndromic deafness 54	DFNA54; autosomal dominant deafness 54	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. [-]
autosomal dominant nonsyndromic deafness 56	DFNA56; autosomal dominant deafness 56	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. [-]
autosomal dominant nonsyndromic deafness 58	DFNA58; autosomal dominant deafness 58	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. [-]
autosomal dominant nonsyndromic deafness 59	DFNA59; autosomal dominant deafness 59	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. [-]
autosomal dominant nonsyndromic deafness 6	DFNA14; DFNA38; DFNA6; autosomal dominant deafness.. [+] DFNA6; DFNA38; DFNA14; autosomal dominant deafness 14; autosomal dominant deafness 38; autosomal dominant deafness 6 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. [-]
autosomal dominant nonsyndromic deafness 64	DFNA64; autosomal dominant deafness 64	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 65	DFNA65; autosomal dominant deafness 65	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. [-]
autosomal dominant nonsyndromic deafness 66	DFNA66; autosomal dominant deafness 66	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. [-]
autosomal dominant nonsyndromic deafness 67	DFNA67; autosomal dominant deafness 67	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 68	DFNA68; autosomal dominant deafness 68	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. [-]
autosomal dominant nonsyndromic deafness 69	DCUA; DFNA69; autosomal dominant deafness 69; unil.. [+] DFNA69; DCUA; autosomal dominant deafness 69; unilateral or asymmetric congenital deafness [-]	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. [-]
autosomal dominant nonsyndromic deafness 7	DFNA7; autosomal dominant deafness 7	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 70	DFNA70; autosomal dominant deafness 70	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. [-]
autosomal dominant nonsyndromic deafness 9	DFNA9; autosomal dominant deafness 9	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. [-]
Wolfram syndrome 1	DIDMOAD; diabetes mellitus AND insipidus with opti.. [+] DIDMOAD; diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1 [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. [-]
rigid spine muscular dystrophy 1	desmin-related myopathy with Mallory body-like inc.. [+] desmin-related myopathy with Mallory body-like inclusions; desmin-related myopathy with Mallory bodies; classic MmD; classic multiminicore disease; classic multiminicore myopathy; congenital merosin-positive muscular dystrophy with early spine rigidity; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; rigid spine syndrome; RSMD1; RSS; SEPN1-related myopathy; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease [-]	A congenital muscular dystrophy characterized by i..[+] A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. [-]