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Disease	Synonyms	Description
split hand-foot malformation 3	distal limb deficiencies with micrognathia; chromo.. [+] distal limb deficiencies with micrognathia; chromosome 10q24 duplication syndrome; SHFM3 [-]	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24 [-]
hypogonadotropic hypogonadism 1 with or without anosmia	dysplasia olfactogenitalis of de morsier	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. [-]
ocular albinism with sensorineural deafness	digenic Waardenburg syndrome/ocular albinism; dige.. [+] digenic Waardenburg syndrome/ocular albinism; digenic Waardenburg syndrome/albinism; autosomal recessive Waardenburg syndrome type 2 with ocular albinism; WS2-OA [-]	A digenic disease characterized by ocular albinism..[+] A digenic disease characterized by ocular albinism, deafness and vestibular dysfunction that has_material_basis_in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23. [-]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	DMSD; diarrhea, polyendocrinopathy, fatal infectio.. [+] DMSD; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; autoimmunity-immunodeficiency syndrome, X-linked; X-linked autoimmunity-allergic dysregulation syndrome; Autoimmune enteropathy type 1; IDDM-secretory diarrhea syndrome; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked; IPEX; XLAAD; XPID [-]	A hypersensitivity reaction type II disease charac..[+] A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11. [-]
brachyolmia-amelogenesis imperfecta syndrome	DASS; dental anomalies and short stature; platyspo.. [+] dental anomalies and short stature; DASS; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5; STHAG6 [-]	An autosomal recessive disease characterized by sk..[+] An autosomal recessive disease characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. [-]
3-methylglutaconic aciduria type 5	DCMA syndrome; dilated cardiomyopathy with ataxia; .. [+] dilated cardiomyopathy with ataxia; DCMA syndrome; DCMA; 3-methylglutaconic aciduria type V; MGA5; MGCA5 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. [-]
Charcot-Marie-Tooth disease dominant intermediate B	DI-CMTB; Charcot-Marie-Tooth neuropathy dominant i.. [+] DI-CMTB; Charcot-Marie-Tooth neuropathy dominant intermediate B; CMTDI1; CMTDIB [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). [-]
Charcot-Marie-Tooth disease dominant intermediate C	DI-CMTC; autosomal dominant intermediate Charcot-M.. [+] DI-CMTC; autosomal dominant intermediate Charcot-Marie-Tooth disease type C; Charcot-Marie-Tooth neuropathy dominant intermediate C; CMTDIC [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. [-]
Charcot-Marie-Tooth disease dominant intermediate D	DI-CMTD; autosomal dominant intermediate Charcot-M.. [+] DI-CMTD; autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Charcot-Marie-Tooth neuropathy dominant intermediate D; CMTDID [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. [-]
Charcot-Marie-Tooth disease dominant intermediate A	DI-CMTA; autosomal dominant intermediate Charcot-M.. [+] DI-CMTA; autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy dominant intermediate A; CMTDIA [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. [-]
cataract 1 multiple types	Duffy linked cataract; CAE1; cataract 1, multiple .. [+] Duffy linked cataract; CAE1; cataract 1, multiple types, with or without microcornea; CTRCT1; CZP1; zonular pulverulent cataract 1 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. [-]
cataract 30	Dusty cataract; cataract 30 pulverulent; cataract .. [+] Dusty cataract; cataract 30 pulverulent; cataract Coppock-like; CTRCT30 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	deficiency of sarcoglycan gamma; DMDA1; autosomal .. [+] DMDA1; deficiency of sarcoglycan gamma; autosomal recessive Duchenne-like muscular dystrophy type 1; gamma-sarcoglycanopathy; LGMD2C; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Maghrebian myopathy; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. [-]
autosomal recessive limb-girdle muscular dystrophy type 2D	Duchenne-like autosomal recessive muscular dystrop.. [+] Duchenne-like autosomal recessive muscular dystrophy type 2; DMDA2; Alpha-sarcoglycanopathy; LGMD2D; muscular dystrophy, limb-girdle, type 2D; primary adhalinopathy [-]	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 alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q. [-]
autosomal recessive limb-girdle muscular dystrophy type 2F	delta-sarcoglycanopathy; LGMD2F; limb-girdle muscu.. [+] delta-sarcoglycanopathy; LGMD2F; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). [-]
X-linked dilated cardiomyopathy	DMD-related dilated cardiomyopathy; CMD3B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. [-]
autosomal recessive nonsyndromic deafness 101	DFNB101; autosomal recessive deafness 101	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	DFNB102; autosomal recessive deafness 102	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	DFNB103; autosomal recessive deafness 103	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	DFNB104; autosomal recessive deafness 104	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	DFNB105; autosomal recessive deafness 105	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	DFNB12; autosomal recessive deafness 12	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	DFNB13; autosomal recessive deafness 13	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	DFNB14; autosomal recessive deafness 14	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	DFNB15; DFNB72; DFNB95; autosomal recessive deafne.. [+] DFNB95; DFNB72; DFNB15; autosomal recessive deafness 15; autosomal recessive deafness 72; autosomal recessive deafness 95 [-]	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	DFNB16; autosomal recessive deafness 16	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	DFNB17; autosomal recessive deafness 17	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	DFNB18A; autosomal recessive deafness 18A	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	DFNB18B; autosomal recessive deafness 18B	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	DFNB1A; autosomal recessive deafness 1A	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	DFNB1B; autosomal recessive deafness 1B	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	DFNB2; autosomal recessive deafness 2	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	DFNB20; autosomal recessive deafness 20	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	DFNB21; autosomal recessive deafness 21	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	DFNB22; autosomal recessive deafness 22	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	DFNB23; autosomal recessive deafness 23	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	DFNB24; autosomal recessive deafness 24	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	DFNB25; autosomal recessive deafness 25	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	DFNB26; autosomal recessive deafness 26	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	DFNB27; autosomal recessive deafness 27	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	DFNB28; autosomal recessive deafness 28	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	DFNB29; autosomal recessive deafness 29	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	DFNB3; autosomal recessive deafness 3, neurosensor.. [+] DFNB3; autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3; 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	DFNB30; autosomal recessive deafness 30	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	DFNB31; autosomal recessive deafness 31	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	DFNB32; autosomal recessive deafness 32	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. [-]
autosomal recessive nonsyndromic deafness 33	DFNB33; autosomal recessive deafness 33	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	DFNB35; autosomal recessive deafness 35	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	DFNB36; autosomal recessive deafness 36	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	DFNB37; autosomal recessive deafness 37	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. [-]