Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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autosomal dominant nonsyndromic deafness 69 |
autosomal dominant deafness 69; DFNA69; unilateral..
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An autosomal dominant nonsyndromic deafness that h..[+]
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autosomal dominant nonsyndromic deafness 7 |
autosomal dominant deafness 7; DFNA7
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An autosomal dominant nonsyndromic deafness that i..[+]
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autosomal dominant nonsyndromic deafness 70 |
autosomal dominant deafness 70; DFNA70
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An autosomal dominant nonsyndromic deafness that h..[+]
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autosomal dominant nonsyndromic deafness 9 |
autosomal dominant deafness 9; DFNA9
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An autosomal dominant nonsyndromic deafness that i..[+]
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autosomal recessive polycystic kidney disease |
Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile..
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A polycystic kidney disease characterized by the p..[+]
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adult hypophosphatasia |
mild hypophosphatasia
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A hypophosphatasia that has_material_basis_in a he..[+]
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autosomal dominant osteopetrosis 1 |
autosomal dominant osteopetrosis type 1; OPTA1
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An osteopetrosis characterized by autosomal domina..[+]
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autosomal dominant osteopetrosis 2 |
An osteopetrosis characterized by autosomal domina..[+]
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autosomal recessive osteopetrosis 5 |
OPTB5; infantile malignant osteopetrosis 3
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 8 |
OPTB8
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 3 |
autosomal recessive osteopetrosis 3 with renal tub..
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 1 |
autosomal recessive Albers-Schonberg disease; OPTB..
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 2 |
mild autosomal recessive form osteopetrosis; OPTB2..
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 4 |
infantile malignant osteopetrosis 2; OPTB4
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 6 |
autosomal recessive osteopetrosis intermediate for..
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An osteopetrosis characterized by autosomal recess..[+]
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autosomal recessive osteopetrosis 7 |
autosomal recessive osteoclast-poor osteopetrosis ..
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An osteopetrosis characterized by autosomal recess..[+]
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atypical Gaucher's disease due to saposin c deficiency |
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A Gaucher's disease that has_material_basis_in com..[+]
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African iron overload |
Bantu siderosis; iron overload in Africa
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A hemochromatosis characterized by a predispositio..[+]
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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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