Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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ocular albinism with sensorineural deafness |
autosomal recessive Waardenburg syndrome type 2 wi..
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A digenic disease characterized by ocular albinism..[+]
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osteogenesis imperfecta type 1 |
osteogenesis imperfecta type I; OI1
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An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures |
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An osteogenesis imperfecta found in a single South..[+]
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osteogenesis imperfecta type 8 |
osteogenesis imperfecta type VIII; OI8
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 7 |
osteogenesis imperfecta type VII; OI7
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 17 |
osteogenesis imperfecta type XVII; OI17
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 3 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 4 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 2 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 13 |
osteogenesis imperfecta type XIII; OI13
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 14 |
osteogenesis imperfecta type XIV; OI14
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 5 |
osteogenesis imperfecta type V; OI5
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 16 |
An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 10 |
osteogenesis imperfecta type X; OI10
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 15 |
osteogenesis imperfecta type XV; OI15
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 12 |
osteogenesis imperfecta type XII; OI12
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 9 |
osteogenesis imperfecta type IX; OI9
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 6 |
osteogenesis imperfecta type VI; OI6
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 11 |
osteogenesis imperfecta type XI; OI11
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An osteogenesis imperfecta that has_material_basis..[+]
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Oguchi disease-1 |
congenital stationary night blindness Oguchi type ..
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A hereditary night blindness characterized by cong..[+]
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Oguchi disease-2 |
congenital stationary night blindness Oguchi type ..
[+]
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A congenital stationary night blindness characteri..[+]
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oligomeganephronia |
Oligomeganephronic renal hypoplasia
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A renal hypoplasia characterized by bilateral redu..[+]
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occipital horn syndrome |
EDS IX; Ehlers-Danlos syndrome type 9; Ehlers-Danl..
[+]
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A metal metabolism disorder characterized by hyper..[+]
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optic atrophy 6 |
OPA6
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An optic atrophy characterized by early onset of s..[+]
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optic atrophy 11 |
OPA11
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An optic atrophy characterized by delayed psychomo..[+]
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optic atrophy 7 |
optic atrophy 7 with or without auditory neuropath..
[+]
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An optic atrophy characterized by juvenile onset, ..[+]
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otopalatodigital syndrome type 2 |
An otopalatodigital syndrome spectrum disorder cha..[+]
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osteogenesis imperfecta type 19 |
osteogenesis imperfecta type XIX; OI19
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An osteogenesis imperfecta characterized by prenat..[+]
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bone cancer |
osseous tumor; bone neoplasm; bone tumour; CA - bo..
[+]
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A connective tissue cancer that is located_in bone..[+]
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exostosis |
A hyperostosis that involves formation of new bone..[+]
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hereditary multiple exostoses |
An exostosis that has_material_basis_in a mutation..[+]
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eye carcinoma |
Ocular carcinoma; carcinoma of eye
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An ocular cancer that has_material_basis_in abnorm..[+]
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third cranial nerve disease |
Oculomotor nerve disorder; disorder of oculomotor ..
[+]
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n_a
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central pontine myelinolysis |
A demyelination disease that is characterized by s..[+]
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myositis ossificans |
Ossification - muscle; Myisitis ossificans
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A myositis that is accompanied by ossification of ..[+]
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carotid artery occlusion |
Occlusion and stenosis of carotid artery
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n_a
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residual stage of open angle glaucoma |
Open-angle glaucoma residual stage; Residual stage..
[+]
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n_a
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esophagus melanoma |
oesophagus melanoma; melanoma of esophagus; melano..
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n_a
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hereditary hemorrhagic telangiectasia |
An autosomal dominant disease characterized by the..[+]
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gyrate atrophy |
Ornithinemia with gyrate atrophy; Gyrate atrophy o..
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n_a
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cognitive disorder |
Organic Mental disorder; cognitive disease
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A disease of mental health that affects cognitive ..[+]
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skeletal tuberculosis |
osteoarticular tuberculosis
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An extrapulmonary tuberculosis that results in for..[+]
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retinal vein occlusion |
Occlusion, of retinal vein; Retinal vein occlusion..
[+]
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n_a
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conjunctival squamous cell carcinoma |
ocular surface squamous neoplasia; Conjunctival Ep..
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A conjunctival cancer characterized by abnormal gr..[+]
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McCune Albright syndrome |
osteitis fibrosa disseminata; fibrous Dysplasia of..
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An autosomal dominant disease that involves skin p..[+]
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hereditary elliptocytosis |
ovalocytosis; Congenital elliptocytosis
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A hematopoietic system disease characterized by ov..[+]
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bronchiolitis obliterans |
Obliterative bronchiolitis; Bronchiolitis exudativ..
[+]
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A obstructive lung disease involving obstruction o..[+]
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cranial nerve III tumor |
n_a
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Goldenhar syndrome |
A syndrome that is characterized by incomplete dev..[+]
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spinal cord oligodendroglioma |
n_a
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