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Disease	Synonyms	Description	Articles	Phenotypes
Charcot-Marie-Tooth disease type 2B2	Autosomal recessive axonal CMT4C3; AR-CMT2B2; auto.. [+] AR-CMT2B2; Autosomal recessive axonal CMT4C3; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; ARCMT2B; Charcot-Marie-Tooth disease neuronal type 2B2; Charcot-Marie-Tooth neuropathy type 2B2; CMT2B2 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. [-]
Charcot-Marie-Tooth disease axonal type 2Z	autosomal dominant axonal Charcot-Marie-Tooth dise.. [+] autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z; Charcot-Marie-Tooth neuropathy type 2Z; CMT2Z [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. [-]
Charcot-Marie-Tooth disease axonal type 2C	autosomal cominant axonal Charcot-Marie-Tooth dise.. [+] autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; hereditary motor and sensory neuropathy type IIc; HMSN2C [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease type 4C	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; CMT4C; Charcot-Marie-Tooth neuropathy type 4C [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. [-]
Charcot-Marie-Tooth disease type 4J	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4J; CMT4J [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. [-]
Charcot-Marie-Tooth disease type 4A	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth neuropathy type 4A; CMT4A [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. [-]
Charcot-Marie-Tooth disease type 4D	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; hereditary motor and sensory neuropathy LOM type; HMSN-Lom; HMSN4D; CMT4D; hereditary motor abd sensory neuropathy LOM type; HMSN Lom type; HMSNL; Charcot-Marie-Tooth neuropathy type 4D [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. [-]
Charcot-Marie-Tooth disease type 4K	autosomal recessive demyelinating Charcot-Marie-To.. [+] autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K; CMT4K; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related CMT4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. [-]
Charcot-Marie-Tooth disease type 4B2	autosomal recessive Charcot-Marie-Tooth disease wi.. [+] autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2; CMT4B2; Charcot-Marie-Tooth neuropathy type 4B2 [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. [-]
Charcot-Marie-Tooth disease type 4B1	autosomal recessive Charcot-Marie-Tooth disease wi.. [+] autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1; Charcot-Marie-Tooth neuropathy type 4B1; CMT4B1 [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). [-]
Charcot-Marie-Tooth disease type 4H	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4H; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth neuropathy type 4H; CMT4H [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). [-]
Charcot-Marie-Tooth disease type 4E	autosomal recessive congenital hypomyelinating or .. [+] autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth neuropathy type 4E; Neuropathy, congenital hypomyelinating, 1; CMT4E [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. [-]
Charcot-Marie-Tooth disease type 4G	autosomal recessive Charcot-Marie-Tooth disease ty.. [+] autosomal recessive Charcot-Marie-Tooth disease type 4G; CMT4G; hereditary motor and sensory neuropathy Russe type; HMSNR; Charcot-Marie-Tooth neuropathy type 4G [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. [-]
Charcot-Marie-Tooth disease recessive intermediate C	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type C; CMTRIC; RI-CMT type C; RI-CMTC [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease dominant intermediate C	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type C; CMTDIC; DI-CMTC; Charcot-Marie-Tooth neuropathy dominant intermediate C [-]	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	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Charcot-Marie-Tooth neuropathy dominant intermediate D; CMTDID; DI-CMTD [-]	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 recessive intermediate A	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy recessive intermediate A; CMTRIA; RI-CMTA [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. [-]
Charcot-Marie-Tooth disease dominant intermediate A	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Charcot-Marie-Tooth neuropathy dominant intermediate A; DI-CMTA; 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. [-]
Charcot-Marie-Tooth disease recessive intermediate D	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type D; RI-CMT type D; CMTRID [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease recessive intermediate B	autosomal recessive intermediate Charcot-Marie-Too.. [+] autosomal recessive intermediate Charcot-Marie-Tooth disease type B; CMTRIB; RI-CMTB; Charcot-Marie-Tooth neuropathy recessive intermediate B [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. [-]
Charcot-Marie-Tooth disease dominant intermediate E	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Charcot-Marie-Tooth disease-nephropathy syndrome; CMTDIE; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. [-]
Charcot-Marie-Tooth disease dominant intermediate F	autosomal dominant intermediate Charcot-Marie-Toot.. [+] autosomal dominant intermediate Charcot-Marie-Tooth disease type F; CMTDIF [-]	A Charcot-Marie-Tooth disease intermediate type th..[+] A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. [-]
Charcot-Marie-Tooth disease X-linked recessive 4	axonal motor sensory neuropathy with deafness and .. [+] axonal motor sensory neuropathy with deafness and mental retardation; Charcot-Marie-Tooth disease with deafness and mental retardation; CMTX4; Cowchock syndrome; NADMR; NAMSD; CMT4X; COWCK; X-linked Charcot-Marie-Tooth disease type 4 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. [-]
cataract 32 multiple types	anterior polar cataract 1; CTAA1; CTPP5; CTRCT32; .. [+] anterior polar cataract 1; CTAA1; CTPP5; CTRCT32; posterior polar cataract 5 [-]	A cataract that has_material_basis_in mutation in ..[+] A cataract that has_material_basis_in mutation in the region 14q22-q23. [-]
cataract 6 multiple types	age related cortical cataract 2; ARCC2; CTPP1; CTR.. [+] ARCC2; age related cortical cataract 2; CTPP1; CTRCT6; posterior polar cataract 1 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. [-]
cataract 34 multiple types	autosomal recessive congenital cataract 3; catarac.. [+] autosomal recessive congenital cataract 3; cataract 34 multiple types with or without microcornea; CATC3; CTRCT34 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. [-]
cataract 39 multiple types	autosomal dominant cataract 39 multiple types; CTR.. [+] autosomal dominant cataract 39 multiple types; CTRCT39 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. [-]
cataract 42	A cataract that has_material_basis_in heterozygous.. [+] A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.; CTRCT42 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. [-]
cataract 18	autosomal recessive congenital cataract 2; CATC2; .. [+] autosomal recessive congenital cataract 2; CATC2; CTRCT18; cataract 18 autosomal recessive [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. [-]
cataract 28	ARCC1; age-related cortical cataract 1; CTRCT28	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 6p12-q12. [-]
cataract 38	autosomal recessive congenital cataract 5; CATC5; .. [+] autosomal recessive congenital cataract 5; CATC5; CTRCT38 [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. [-]
cataract 36	autosomal recessive congenital cataract 4; CATC4; .. [+] autosomal recessive congenital cataract 4; CATC4; CTRCT36 [-]	A cataract that has_material_basis_in homozygous m..[+] A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. [-]	1 articles	9 matches
cataract 24	anterior polar cataract 2; anterior polar cataract.. [+] anterior polar cataract 2; anterior polar cataract 24; CTAA2; CTRCT24 [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 17p13. [-]
cataract 35	autosomal recessive congenital nuclear cataract 1; .. [+] autosomal recessive congenital nuclear cataract 1; CATCN1; CTRCT35; cataract 35, congenital nuclear [-]	A cataract that has_material_basis_in variation in..[+] A cataract that has_material_basis_in variation in the region 19q13. [-]
cataract 9 multiple types	autosomal recessive congenital cataract 1; catarac.. [+] autosomal recessive congenital cataract 1; cataract 9 multiple types with or without microcornea; CTRCT9; CATC1 [-]	A cataract that has_material_basis_in autosomal re..[+] A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. [-]
cataract 22 multiple types	autosomal recessive congenital nuclear cataract 2; .. [+] autosomal recessive congenital nuclear cataract 2; CATCN2; CTRCT22 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. [-]
cataract 17 multiple types	autosomal recessive congenital nuclear cataract 3; .. [+] autosomal recessive congenital nuclear cataract 3; CATCN3; CTRCT17 [-]	A cataract that has_material_basis_in heterozygous..[+] A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. [-]
dilated cardiomyopathy 1J	autosomal dominant dilated cardiomyopathy with sen.. [+] autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. [-]
Stromme syndrome	apple peel syndrome with microcephaly and ocular a.. [+] apple peel syndrome with microcephaly and ocular anomalies; CILD31; jejunal atresia with microcephaly and ocular anomalies; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. [-]
hypotrichosis 6	autosomal recessive localized hypotrichosis; Hypt6.. [+] autosomal recessive localized hypotrichosis; Hypt6; Lah1; Monilethrix-like hypotrichosis; Hypotrichosis, Localized, Autosomal Recessive 1 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. [-]
neuronal ceroid lipofuscinosis 4	autosomal dominant neuronal ceroid lipofuscinosis .. [+] autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease; neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. [-]
neuronal ceroid lipofuscinosis 6B	autosomal recessive neuronal ceroid lipofuscinosis.. [+] autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A; neuronal ceroid lipofuscinosis 4A [-]	A neuronal ceroid lipofuscinosis that is character..[+] A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. [-]
neurodegeneration with brain iron accumulation 3	Adult basal ganglia disease; Ferritin-related neur.. [+] Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy; Neuroferritinopathy; NBIA3; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
hereditary spastic paraplegia 10	autosomal dominant spastic paraplegia type 10; aut.. [+] autosomal dominant spastic paraplegia type 10; autosomal dominant spastic paraplegia 10; SPG10 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. [-]
hereditary spastic paraplegia 11	autosomal recessive spastic paraplegia with mental.. [+] autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia type 11; HSP-TCC; Nakamura-Osame syndrome; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; SPG11 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 12	autosomal dominant spastic paraplegia type 12; aut.. [+] autosomal dominant spastic paraplegia type 12; autosomal dominant spastic paraplegia 12; SPG12 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. [-]
hereditary spastic paraplegia 13	autosomal dominant spastic paraplegia 13; SPG13	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. [-]
hereditary spastic paraplegia 14	autosomal recessive spastic paraplegia type 14; au.. [+] autosomal recessive spastic paraplegia type 14; autosomal recessive spastic paraplegia 14; SPG14 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. [-]
hereditary spastic paraplegia 15	autosomal recessive spastic paraplegia type 15; au.. [+] autosomal recessive spastic paraplegia type 15; autosomal recessive spastic paraplegia 15; hereditary spastic paraparesis type 15; Kjellin syndrome; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; SPG15 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. [-]
hereditary spastic paraplegia 17	autosomal dominant spastic paraplegia type 17; aut.. [+] autosomal dominant spastic paraplegia type 17; autosomal dominant spastic paraplegia 17; distal hereditary motor neuropathy type 5B; dHMN5B; Silver spastic paraplegia syndrome; Silver syndrome; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; SPG17 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. [-]

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