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Disease	Synonyms	Description	Articles
autosomal dominant limb-girdle muscular dystrophy type 1H	LGMD1H; muscular dystrophy limb-girdle type 1H	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. [-]
autosomal dominant limb-girdle muscular dystrophy type 2	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1F; muscular dystrophy limb-girdle type 1F; LGMD1F [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. [-]
autosomal dominant limb-girdle muscular dystrophy type 1	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1E; LGMD1D; muscular dystrophy limb-girdle type 1E; muscular dystrophy limb-girdle type 1D [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. [-]
autosomal dominant limb-girdle muscular dystrophy type 3	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1G; LGMD1G; muscular dystrophy limb-girdle type 1G [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. [-]
autosomal recessive pericentral pigmentary retinopathy		A retinitis pigmentosa that is characterized autos..[+] A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. [-]
autosomal recessive nonsyndromic deafness 101	autosomal recessive deafness 101; DFNB101	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. [-]
autosomal recessive nonsyndromic deafness 102	autosomal recessive deafness 102; DFNB102	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. [-]
autosomal recessive nonsyndromic deafness 103	autosomal recessive deafness 103; DFNB103	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. [-]
autosomal recessive nonsyndromic deafness 104	autosomal recessive deafness 104; DFNB104	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. [-]
autosomal recessive nonsyndromic deafness 12	autosomal recessive deafness 12; DFNB12	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 CDH23 gene on chromosome 10q22. [-]
autosomal recessive nonsyndromic deafness 13	autosomal recessive deafness 13; DFNB13	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. [-]
autosomal recessive nonsyndromic deafness 14	autosomal recessive deafness 14; DFNB14	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. [-]
autosomal recessive nonsyndromic deafness 15	autosomal recessive deafness 95; autosomal recessi.. [+] autosomal recessive deafness 95; autosomal recessive deafness 72; autosomal recessive deafness 15; DFNB15; DFNB72; DFNB95 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. [-]
autosomal recessive nonsyndromic deafness 16	autosomal recessive deafness 16; DFNB16	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 STRC gene on chromosome 15q15. [-]
autosomal recessive nonsyndromic deafness 17	autosomal recessive deafness 17; DFNB17	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. [-]
autosomal recessive nonsyndromic deafness 18A	autosomal recessive deafness 18A; DFNB18A	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 USH1C gene on chromosome 11p15. [-]
autosomal recessive nonsyndromic deafness 18B	autosomal recessive deafness 18B; DFNB18B	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. [-]
autosomal recessive nonsyndromic deafness 1A	autosomal recessive deafness 1A; DFNB1A	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. [-]	1 articles
autosomal recessive nonsyndromic deafness 1B	autosomal recessive deafness 1B; DFNB1B	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. [-]
autosomal recessive nonsyndromic deafness 2	autosomal recessive deafness 2; DFNB2	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. [-]
autosomal recessive nonsyndromic deafness 20	autosomal recessive deafness 20; DFNB20	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. [-]
autosomal recessive nonsyndromic deafness 21	autosomal recessive deafness 21; DFNB21	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 TECTA gene on chromosome 11q23.3. [-]
autosomal recessive nonsyndromic deafness 22	autosomal recessive deafness 22; DFNB22	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 OTOA gene on chromosome 16p12. [-]
autosomal recessive nonsyndromic deafness 23	autosomal recessive deafness 23; DFNB23	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 PCDH15 gene on chromosome 10q21. [-]
autosomal recessive nonsyndromic deafness 24	autosomal recessive deafness 24; DFNB24	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 RDX gene on chromosome 11q22. [-]
autosomal recessive nonsyndromic deafness 25	autosomal recessive deafness 25; DFNB25	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 GRXCR1 gene on chromosome 4p13. [-]
autosomal recessive nonsyndromic deafness 26	autosomal recessive deafness 26; DFNB26	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. [-]
autosomal recessive nonsyndromic deafness 27	autosomal recessive deafness 27; DFNB27	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. [-]
autosomal recessive nonsyndromic deafness 28	autosomal recessive deafness 28; DFNB28	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 TRIOBP gene on chromosome 22q13. [-]
autosomal recessive nonsyndromic deafness 29	autosomal recessive deafness 29; DFNB29	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 CLDN14 gene on chromosome 21q22. [-]
autosomal recessive nonsyndromic deafness 3	autosomal recessive deafness 3, neurosensory nonsy.. [+] autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3; DFNB3; NRSD3 [-]	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 MYO15A gene on chromosome 17p11. [-]
autosomal recessive nonsyndromic deafness 30	autosomal recessive deafness 30; DFNB30	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 mutations in the MYO3A gene on chromosome 10p12.1. [-]
autosomal recessive nonsyndromic deafness 31	autosomal recessive deafness 31; DFNB31	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. [-]
autosomal recessive nonsyndromic deafness 32	autosomal recessive deafness 105; autosomal recess.. [+] autosomal recessive deafness 105; autosomal recessive deafness 32; DFNB32; hearing impairment infertile male syndrome; HIIMS [-]	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 male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. [-]
autosomal recessive nonsyndromic deafness 33	autosomal recessive deafness 33; DFNB33	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. [-]
autosomal recessive nonsyndromic deafness 35	autosomal recessive deafness 35; DFNB35	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. [-]
autosomal recessive nonsyndromic deafness 36	autosomal recessive deafness 36; DFNB36	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. [-]
autosomal recessive nonsyndromic deafness 37	autosomal recessive deafness 37; DFNB37	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. [-]
autosomal recessive nonsyndromic deafness 38	autosomal recessive deafness 38; DFNB38	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	autosomal recessive deafness 39; DFNB39	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	autosomal recessive deafness 4 with enlarged vesti.. [+] autosomal recessive deafness 4 with enlarged vestibular aqueduct; DFNB4 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. [-]	2 articles
autosomal recessive nonsyndromic deafness 40	autosomal recessive deafness 40; DFNB40	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	autosomal recessive deafness 42; DFNB42	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	autosomal recessive deafness 44; DFNB44	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	autosomal recessive deafness 45; DFNB45	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	autosomal recessive deafness 46; DFNB46	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	autosomal recessive deafness 47; DFNB47	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	autosomal recessive deafness 48; DFNB48	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	autosomal recessive deafness 49; DFNB49	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	autosomal recessive deafness 5; DFNB5	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. [-]