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Disease	Synonyms	Description
autosomal recessive limb-girdle muscular dystrophy type 2S	LGMD2S; muscular dystrophy, limb-girdle, type 2S	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. [-]
autosomal recessive limb-girdle muscular dystrophy type 2W	LGMD2W; muscular dystrophy, limb-girdle, type 2W	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. [-]
autosomal recessive limb-girdle muscular dystrophy type 2Y	autosomal recessive muscular dystrophy due to Tors.. [+] autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; autosomal recessive muscular dystrophy due to LAP1B deficiency; LGMD2Y; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, limb-girdle, type 2Y [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. [-]
autosomal recessive limb-girdle muscular dystrophy type 2X	LGMD2X; muscular dystrophy, limb-girdle, type 2X	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2O	LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopa.. [+] LGMD2O; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. [-]
autosomal recessive limb-girdle muscular dystrophy type 2P	LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopa.. [+] LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2T	LGMD2T; MDDGC14; muscular dystrophy limb-girdle ty.. [+] LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2U	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency; LGMD2U; MDDGC7; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. [-]
autosomal recessive limb-girdle muscular dystrophy type 2M	LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopa.. [+] LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. [-]
autosomal recessive limb-girdle muscular dystrophy type 2K	LGMD2K; limb-girdle muscular dystrophy-intellectua.. [+] LGMD2K; limb-girdle muscular dystrophy-intellectual disability syndrome; MDDGC1; muscular dystrophy limb-girdle type 2K; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). [-]
autosomal recessive limb-girdle muscular dystrophy type 2N	LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopa.. [+] LGMD2N; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. [-]
autosomal recessive limb-girdle muscular dystrophy type 2I	LGMD2I; Limb-girdle muscular dystrophy due to FKRP.. [+] LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. [-]
autosomal dominant limb-girdle muscular dystrophy type 1A	LGMD1A; limb-girdle muscular dystrophy due to myot.. [+] LGMD1A; limb-girdle muscular dystrophy due to myotilin deficiency; muscular dystrophy limb-girdle type 1A; proximal muscular dystrophy type 1A [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. [-]
autosomal dominant limb-girdle muscular dystrophy type 1B	LGMD1B; Limb-girdle muscular dystrophy due to lami.. [+] LGMD1B; Limb-girdle muscular dystrophy due to lamin A/C deficiency; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). [-]
autosomal dominant limb-girdle muscular dystrophy type 1C	LGMD1C; limb-girdle muscular dystrophy due to cave.. [+] LGMD1C; limb-girdle muscular dystrophy due to caveolin-3 deficiency; muscular dystrophy limb-girdle type IC [-]	An autosomal dominant limb-girdle muscular dystrop..[+] An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. [-]
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 1F	LGMD1F; muscular dystrophy limb-girdle type 1F	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 1D; muscular dystrophy limb-girdle type 1E [-]	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 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 105	autosomal recessive deafness 105; DFNB105	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21. [-]
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. [-]
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 32; DFNB32	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 variation in the chromosome region 1p22.1-p13.3. [-]