Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Ambras type hypertrichosis universalis congenita |
Ambras syndrome; HTC1
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A hypertrichosis characterized by autosomal domina..[+]
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autosomal recessive distal hereditary motor neuronopathy 1 |
autosomal recessive distal spinal muscular atrophy..
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A spinal muscular atrophy characterized by autosom..[+]
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autosomal recessive distal hereditary motor neuronopathy 2 |
autosomal recessive distal spinal muscular atrophy..
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A spinal muscular atrophy characterized by autosom..[+]
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acquired von Willebrand syndrome |
AVWS
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A blood coagulation disease characterized by devel..[+]
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angioimmunoblastic T-cell lymphoma |
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A peripheral T-cell lymphoma characterized by auto..[+]
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autosomal recessive isolated ectopia lentis 2 |
ECTOL2
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An isolated ectopia lentis that has_material_basis..[+]
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autosomal dominant isolated ectopia lentis 1 |
ECTOL1
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An isolated ectopia lentis that has_material_basis..[+]
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autosomal recessive spinocerebellar ataxia 21 |
autosomal recessive spinocerebellar ataxia 21 with..
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An autosomal recessive cerebellar ataxia that has_..[+]
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autosomal dominant sensory ataxia 1 |
ADSA; SNAX1
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A hereditary ataxia characterized by gait difficul..[+]
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autosomal dominant adult-onset proximal spinal muscular atrophy |
autosomal dominant late-onset spinal muscular atro..
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A spinal muscular atrophy characterized by adult-o..[+]
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autosomal recessive distal hereditary motor neuronopathy |
autosomal recessive distal spinal muscular atrophy..
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A spinal muscular atrophy that has_material_basis_..[+]
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autosomal dominant distal hereditary motor neuronopathy |
autosomal dominant distal spinal muscular atrophy; ..
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A spinal muscular atrophy that is characterized by..[+]
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autosomal dominant distal hereditary motor neuronopathy 7 |
dHMN7; DHMNVPy; distal spinal muscular atrophy wit..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 1 |
autosomal dominant distal juvenile spinal muscular..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 14 |
DHMN7B; distal hereditary motor neuronopathy type ..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 5 |
DHMN5; distal hereditary motor neuropathy type V; ..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 12 |
distal hereditary motor neuronopathy type 5B; dist..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 2 |
autosomal dominant adult spinal muscular atrophy I..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 3 |
distal hereditary motor neuropathy type IIB; HMN I..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal dominant distal hereditary motor neuronopathy 4 |
DHMN2C; distal hereditary motor neuronopathy type ..
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A distal hereditary motor neuropathy that has_mate..[+]
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autosomal dominant distal hereditary motor neuronopathy 6 |
distal hereditary motor neuronopathy type 2D; dist..
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A distal hereditary motor neuropathy that has_mate..[+]
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autosomal recessive distal hereditary motor neuronopathy 3 |
autosomal recessive distal spinal muscular atrophy..
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal dominant distal hereditary motor neuronopathy 9 |
DHMN9; distal hereditary motor neuronopathy type 9..
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An autosomal domiant distal hereditary motor neuro..[+]
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autosomal recessive distal hereditary motor neuronopathy 4 |
autosomal recessive lower motor neuron disease wit..
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal recessive distal hereditary motor neuronopathy 5 |
autosomal recessive distal spinal muscular atrophy..
[+]
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An autosomal recessive distal hereditary motor neu..[+]
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autosomal dominant distal hereditary motor neuronopathy 8 |
autosomal dominant congenital benign spinal muscul..
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An autosomal dominant distal hereditary motor neur..[+]
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autosomal recessive centronuclear myopathy |
AR-CNM
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A centronuclear myopathy that has_material_basis_i..[+]
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autosomal dominant centronuclear myopathy |
AD-CNM
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A centronuclear myopathy that has_material_basis_i..[+]
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acromicric dysplasia |
ACMICD; acromicric skeletal dysplasia
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An osteochondrodysplasia characterized by autosoma..[+]
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amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 |
A neurodegenerative disease characterized by chron..[+]
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autosomal recessive hyaline body myopathy |
congenital myopathy 7B; MSMB; Myopathy, myosin sto..
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A hyaline body myopathy that has_material_basis_in..[+]
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autosomal dominant hyaline body myopathy |
congenital myopathy 7A; MSMA; myopathy with lysis ..
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A hyaline body myopathy that has_material_basis_in..[+]
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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 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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