Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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split hand-foot malformation 3 |
distal limb deficiencies with micrognathia; chromo..
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A split-hand/foot malformation that has_material_b..[+]
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hypogonadotropic hypogonadism 1 with or without anosmia |
dysplasia olfactogenitalis of de morsier
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A hypogonadotropic hypogonadism that has_material_..[+]
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ocular albinism with sensorineural deafness |
A digenic disease characterized by ocular albinism..[+]
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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
A hypersensitivity reaction type II disease charac..[+]
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brachyolmia-amelogenesis imperfecta syndrome |
An autosomal recessive disease characterized by sk..[+]
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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; CAE1; cataract 1, multiple ..
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A cataract that has_material_basis_in heterozygous..[+]
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cataract 30 |
Dusty cataract; cataract 30 pulverulent; cataract ..
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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 |
Duchenne-like autosomal recessive muscular dystrop..
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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 105 |
DFNB105; autosomal recessive deafness 105
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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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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; autosomal recessive deafness 3, neurosensor..
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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
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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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