Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Carvajal syndrome |
dilated cardiomyopathy with woolly hair and kerato..
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A Naxos disease that is characterized by dilated c..[+]
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brachyolmia-amelogenesis imperfecta syndrome |
A syndrome characterized by skeletal dysplasia (br..[+]
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3-methylglutaconic aciduria type 5 |
A 3-methylglutaconic aciduria that has_material_ba..[+]
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Charcot-Marie-Tooth disease dominant intermediate B |
DI-CMTB; Charcot-Marie-Tooth neuropathy dominant i..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease dominant intermediate C |
DI-CMTC; autosomal dominant intermediate Charcot-M..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease dominant intermediate D |
DI-CMTD; autosomal dominant intermediate Charcot-M..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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Charcot-Marie-Tooth disease dominant intermediate A |
DI-CMTA; autosomal dominant intermediate Charcot-M..
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A Charcot-Marie-Tooth disease intermediate type th..[+]
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cataract 1 multiple types |
Duffy linked cataract; cataract 1, multiple types,..
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A cataract that has_material_basis_in heterozygous..[+]
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2 articles | |
cataract 30 |
Dusty cataract; cataract 30 pulverulent; CTRCT30; ..
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A cataract that has_material_basis_in heterozygous..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2C |
An autosomal recessive limb-girdle muscular dystro..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2D |
An autosomal recessive limb-girdle muscular dystro..[+]
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autosomal recessive limb-girdle muscular dystrophy type 2F |
delta-sarcoglycanopathy; LGMD2F; limb-girdle muscu..
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An autosomal recessive limb-girdle muscular dystro..[+]
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X-linked dilated cardiomyopathy |
DMD-related dilated cardiomyopathy; CMD3B
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A dilated cardiomyopathy that has_material_basis_i..[+]
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autosomal recessive nonsyndromic deafness 101 |
DFNB101; autosomal recessive deafness 101
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 102 |
DFNB102; autosomal recessive deafness 102
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 103 |
DFNB103; autosomal recessive deafness 103
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 104 |
DFNB104; autosomal recessive deafness 104
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 12 |
DFNB12; autosomal recessive deafness 12
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 13 |
DFNB13; autosomal recessive deafness 13
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 14 |
DFNB14; autosomal recessive deafness 14
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 15 |
An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 16 |
DFNB16; autosomal recessive deafness 16
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 17 |
DFNB17; autosomal recessive deafness 17
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 18A |
DFNB18A; autosomal recessive deafness 18A
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 18B |
DFNB18B; autosomal recessive deafness 18B
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 1A |
DFNB1A; autosomal recessive deafness 1A
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An autosomal recessive nonsyndromic deafness that ..[+]
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1 articles | |
autosomal recessive nonsyndromic deafness 1B |
DFNB1B; autosomal recessive deafness 1B
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 2 |
DFNB2; autosomal recessive deafness 2
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 20 |
DFNB20; autosomal recessive deafness 20
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 21 |
DFNB21; autosomal recessive deafness 21
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 22 |
DFNB22; autosomal recessive deafness 22
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 23 |
DFNB23; autosomal recessive deafness 23
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 24 |
DFNB24; autosomal recessive deafness 24
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 25 |
DFNB25; autosomal recessive deafness 25
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 26 |
DFNB26; autosomal recessive deafness 26
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 27 |
DFNB27; autosomal recessive deafness 27
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 28 |
DFNB28; autosomal recessive deafness 28
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 29 |
DFNB29; autosomal recessive deafness 29
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 3 |
DFNB3; NRSD3; autosomal recessive deafness 3, neur..
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 30 |
DFNB30; autosomal recessive deafness 30
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 31 |
DFNB31; autosomal recessive deafness 31
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 32 |
DFNB32; autosomal recessive deafness 32; autosomal..
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 33 |
DFNB33; autosomal recessive deafness 33
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 35 |
DFNB35; autosomal recessive deafness 35
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 36 |
DFNB36; autosomal recessive deafness 36
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 37 |
DFNB37; autosomal recessive deafness 37
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 38 |
DFNB38; autosomal recessive deafness 38
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 39 |
DFNB39; autosomal recessive deafness 39
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal recessive nonsyndromic deafness 4 |
DFNB4; autosomal recessive deafness 4 with enlarge..
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An autosomal recessive nonsyndromic deafness that ..[+]
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2 articles | |
autosomal recessive nonsyndromic deafness 40 |
DFNB40; autosomal recessive deafness 40
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An autosomal recessive nonsyndromic deafness that ..[+]
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