Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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arthrogryposis, renal dysfunction, and cholestasis 1 |
ARCS1
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An arthrogryposis, renal dysfunction, and cholesta..[+]
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arthrogryposis, renal dysfunction, and cholestasis 2 |
ARCS2
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An arthrogryposis, renal dysfunction, and cholesta..[+]
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adermatoglyphia |
A skin disease characterized by lack of epidermal ..[+]
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Alzheimer's disease 9 |
Alzheimer's disease 9, late onset; AD9
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An Alzheimer's disease that has_material_basis_in ..[+]
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apolipoprotein C-III deficiency |
HALP2; hyperalphalipoproteinemia 2
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A cholesterol-ester transfer protein deficiency ch..[+]
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autosomal dominant keratitis |
hereditary keratitis
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A keratitis characterized by corneal opacification..[+]
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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
autosomal recessive progressive external ophthalmo..
[+]
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A chronic progressive external ophthalmoplegia cha..[+]
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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
autosomal recessive progressive external ophthalmo..
[+]
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A chronic progressive external ophthalmoplegia cha..[+]
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
autosomal dominant progressive external ophthalmop..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
autosomal dominant progressive external ophthalmop..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
autosomal dominant progressive external ophthalmop..
[+]
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A chronic progressive external ophthalmoplegia cha..[+]
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
autosomal dominant progressive external ophthalmop..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal dominant progressive external ophthalmoplegia 1 |
PEOA1
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal recessive progressive external ophthalmoplegia 1 |
PEOB1
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
autosomal recessive progressive external ophthalmo..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
autosomal recessive progressive external ophthalmo..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
autosomal dominant progressive external ophthalmop..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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aplasia of lacrimal and salivary glands |
ALSG; congenital absence of lacrimal puncta and sa..
[+]
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A syndrome characterized by irritable eyes, epipho..[+]
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Alkuraya-Kucinskas syndrome |
ALKKUCS
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A syndrome characterized by arthrogryposis, cerebr..[+]
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autosomal dominant vitreoretinochoroidopathy |
ADVIRC; vitreoretinochoroidopathy dominant; vitreo..
[+]
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A hereditary retinal dystrophy characterized by ab..[+]
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autosomal dominant woolly hair |
ADWH
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A familial woolly hair syndrome that has_material_..[+]
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autosomal recessive woolly hair 3 |
ARWH3
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A familial woolly hair syndrome that has_material_..[+]
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asthma, nasal polyps, and aspirin intolerance |
ASA triad
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A respiratory system disease characterized by asth..[+]
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autosomal recessive Whistling face syndrome |
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A Freeman-Sheldon syndrome that has autosomal rece..[+]
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autosomal recessive spinocerebellar ataxia 4 |
autosomal recessive cerebellar ataxia-saccadic int..
[+]
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 3 |
autosomal recessive spinocerebellar ataxia-blindne..
[+]
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 23 |
autosomal recessive cerebellar ataxia-epilepsy-int..
[+]
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 22 |
SCAR22
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 24 |
SCAR24
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal recessive spinocerebellar ataxia 27 |
SCAR27
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 6 |
autosomal recessive spinocerebellar ataxia type 6; ..
[+]
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An autosomal recessive cerebellar ataxia character..[+]
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autosomal recessive spinocerebellar ataxia 8 |
An autosomal recessive cerebellar ataxia character..[+]
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ACTH-independent macronodular adrenal hyperplasia |
A primary hyperaldosteronism characterized by mult..[+]
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ACTH-independent macronodular adrenal hyperplasia 1 |
AIMAH1
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An ACTH-independent macronodular adrenal hyperplas..[+]
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ACTH-independent macronodular adrenal hyperplasia 2 |
AIMAH2
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An ACTH-independent macronodular adrenal hyperplas..[+]
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autosomal recessive nonsyndromic deafness 99 |
autosomal recessive deafness 99; DFNB99
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 57 |
autosomal recessive deafness 57; DFNB57
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 113 |
autosomal recessive deafness 113; DFNB113
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 112 |
autosomal recessive deafness 112; DFNB112
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 100 |
autosomal recessive deafness 100; DFNB100
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 109 |
autosomal recessive deafness 109; DFNB109
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 111 |
autosomal recessive deafness 111; DFNB111
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 94 |
autosomal recessive deafness 94; DFNB94
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 114 |
autosomal recessive deafness 114; DFNB114
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 115 |
autosomal recessive deafness 115; DFNB115
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An autosomal recessive nonsyndromic deafness chara..[+]
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autosomal recessive nonsyndromic deafness 110 |
autosomal recessive deafness 110; DFNB110
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An autosomal recessive nonsyndromic deafness chara..[+]
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Ayme-Gripp syndrome |
AYGRP; cataracts, congenital, with sensorineural d..
[+]
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A syndrome characterized by congenital cataracts, ..[+]
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ankyrin-B-related cardiac arrhythmia |
ankyrin-B syndrome
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A heart disease characterized by a broad spectrum ..[+]
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amelogenesis imperfecta type 3 |
AI3; hypocalcified amelogenesis imperfecta
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An amelogenesis imperfecta characterized by soft e..[+]
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amelogenesis imperfecta type 3C |
autosomal recessive amelogenesis imperfecta hypoca..
[+]
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An amelogenesis imperfecta type 3 that is characte..[+]
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