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Disease	Synonyms	Description	Articles
autosomal dominant nonsyndromic deafness 2A	autosomal dominant deafness 2A; DFNA2A	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. [-]	1 articles
autosomal dominant nonsyndromic deafness 2B	autosomal dominant deafness 2B; DFNA2B	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	autosomal dominant deafness 30; DFNA30	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	autosomal dominant deafness 31; DFNA31	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	autosomal dominant deafness 33; DFNA33	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	autosomal dominant deafness 36; DFNA36	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	autosomal dominant deafness 3A; DFNA3A	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. [-]	2 articles
autosomal dominant nonsyndromic deafness 3B	autosomal dominant deafness 3B; DFNA3B	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	autosomal dominant deafness 40; DFNA40	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	autosomal dominant deafness 41; DFNA41	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	autosomal dominant deafness 43; DFNA43	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	autosomal dominant deafness 44; DFNA44	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	autosomal dominant deafness 47; DFNA47	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	autosomal dominant deafness 48; DFNA48	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	autosomal dominant deafness 49; DFNA49	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	autosomal dominant deafness 4A; DFNA4A	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	autosomal dominant deafness 4B; DFNA4B	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	autosomal dominant deafness 5; DFNA5	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 mutation in the DFNA5 gene on chromosome 7p15. [-]
autosomal dominant nonsyndromic deafness 50	autosomal dominant deafness 50; DFNA50	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	autosomal dominant deafness 51; DFNA51; chromosome.. [+] autosomal dominant deafness 51; DFNA51; 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	autosomal dominant deafness 52; DFNA52	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	autosomal dominant deafness 53; DFNA53	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	autosomal dominant deafness 54; DFNA54	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	autosomal dominant deafness 56; DFNA56	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	autosomal dominant deafness 58; DFNA58	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	autosomal dominant deafness 59; DFNA59	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	autosomal dominant deafness 6; autosomal dominant .. [+] autosomal dominant deafness 6; autosomal dominant deafness 38; autosomal dominant deafness 14; DFNA38; DFNA6; DFNA14 [-]	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	autosomal dominant deafness 64; DFNA64	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	autosomal dominant deafness 65; DFNA65	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	autosomal dominant deafness 66; DFNA66	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	autosomal dominant deafness 67; DFNA67	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	autosomal dominant deafness 68; DFNA68	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	autosomal dominant deafness 69; DFNA69; unilateral.. [+] autosomal dominant deafness 69; DFNA69; unilateral or asymmetric congenital deafness; DCUA [-]	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	autosomal dominant deafness 7; DFNA7	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	autosomal dominant deafness 70; DFNA70	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	autosomal dominant deafness 9; DFNA9	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. [-]
autosomal recessive polycystic kidney disease	Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile.. [+] Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile, Type I; Polycystic Kidney and Hepatic Disease 1 [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. [-]
adult hypophosphatasia	mild hypophosphatasia	A hypophosphatasia that has_material_basis_in a he..[+] A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. [-]
autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1; OPTA1	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	autosomal dominant Albers-Schonberg disease; autos.. [+] autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II; Albers-Schonberg osteopetrosis; OPTA2; osteopetrosis autosomal dominant type 2 [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 5	OPTB5; infantile malignant osteopetrosis 3	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 8	OPTB8	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. [-]
autosomal recessive osteopetrosis 3	autosomal recessive osteopetrosis 3 with renal tub.. [+] autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease; osteopetrosis with renal tubular acidosis; OPTB3 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 1	autosomal recessive Albers-Schonberg disease; OPTB.. [+] autosomal recessive Albers-Schonberg disease; OPTB1; infantile malignant osteopetrosis 1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 2	mild autosomal recessive form osteopetrosis; OPTB2.. [+] mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
autosomal recessive osteopetrosis 4	infantile malignant osteopetrosis 2; OPTB4	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 6	autosomal recessive osteopetrosis intermediate for.. [+] autosomal recessive osteopetrosis intermediate form; OPTB6 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. [-]
autosomal recessive osteopetrosis 7	autosomal recessive osteoclast-poor osteopetrosis .. [+] autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7; OPTB7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. [-]
atypical Gaucher's disease due to saposin c deficiency		A Gaucher's disease that has_material_basis_in com..[+] A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. [-]
African iron overload	Bantu siderosis; iron overload in Africa	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]