Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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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arthrogryposis due to muscular dystrophy |
congenital muscular dystrophy producing arthrogryp..
[+]
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A congenital muscular dystrophy characterized by n..[+]
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autosomal recessive polycystic kidney disease |
Arpkd; Pkhd1; Polycystic Kidney and Hepatic Diseas..
[+]
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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 |
infantile malignant osteopetrosis 3; OPTB5
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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; infa..
[+]
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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 |
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 spinal muscular atrophy 2 |
dHMNJ; distal hereditary motor neuropathy Jerash t..
[+]
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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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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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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 with mitochondrial DNA deletions 3 |
autosomal recessive progressive external ophthalmo..
[+]
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A chronic progressive external ophthalmoplegia tha..[+]
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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 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 27 |
SCAR27
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An autosomal recessive cerebellar ataxia character..[+]
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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 109 |
autosomal recessive deafness 109; DFNB109
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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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amelogenesis imperfecta type 3 |
AI3; hypocalcified amelogenesis imperfecta
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An amelogenesis imperfecta characterized by soft e..[+]
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aminoglycoside-induced deafness |
streptomycin ototoxicity; streptomycin-induced dea..
[+]
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A drug-induced hearing loss characterized by heari..[+]
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Abruzzo-Erickson syndrome |
CHARGE-like syndrome, X-linked; cleft palate-colob..
[+]
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A syndrome characterized by cleft palate, coloboma..[+]
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AMME complex |
A syndrome characterized by Alport syndrome, menta..[+]
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autosomal recessive congenital bilateral absence of vas deferens |
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A congenital bilateral absence of vas deferens tha..[+]
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autosomal dominant thrombophilia due to protein C deficiency |
A thrombophilia characterized by reduced serum lev..[+]
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autosomal recessive nonsyndromic deafness 116 |
DFNB116
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An autosomal recessive nonsyndromic deafness that ..[+]
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autosomal dominant nonsyndromic deafness 75 |
DFNA75
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An autosomal dominant nonsyndromic deafness that h..[+]
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autosomal dominant spondyloepiphyseal dysplasia tarda |
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A spondyloepiphyseal dysplasia tarda that has_mate..[+]
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autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type |
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A spondyloepiphyseal dysplasia tarda characterized..[+]
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autosomal recessive spondyloepiphyseal dysplasia tarda |
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A spondyloepiphyseal dysplasia tarda characterized..[+]
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alacrima, achalasia, and impaired intellectual development syndrome |
alacrima, achalasia, and mental retardation syndro..
[+]
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A congenital disorder of glycosylation characteriz..[+]
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lymphatic system disease |
Adenopathy; disease of lympoid system; disorder of..
[+]
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An immune system disease that is located_in the ly..[+]
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gastrointestinal system disease |
alimentary system disease; digestive system disord..
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A disease of anatomical entity that is located_in ..[+]
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lateral sclerosis |
adult-onset primary lateral sclerosis; primary lat..
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A motor neuron disease characterized by painless b..[+]
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