Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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congenital myasthenic syndrome 11 |
A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 13 |
congenital myasthenic syndrome with tubular aggreg..
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A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 4B |
A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 4A |
A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 4C |
A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 2C |
congenital myasthenic syndrome 2C associated with ..
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A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 2A |
A congenital myasthenic syndrome characterized by ..[+]
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congenital myasthenic syndrome 16 |
congenital myasthenic syndrome acetazolamide-respo..
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A congenital myasthenic syndrome that has_material..[+]
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congenital myasthenic syndrome 18 |
CMS18
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A congenital myasthenic syndrome characterized by ..[+]
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congenital hypotrichosis with juvenile macular dystrophy |
hypotrichosis with cone-rod dystrophy; Hjmd
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A hypotrichosis that has_material_basis_in a autos..[+]
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congenital stationary night blindness 1G |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness autosomal dominant 3 |
CSNBAD3; Nougaret type congenital stationary night..
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A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness autosomal dominant 1 |
CSNBAD1; rhodopsin-related congenital stationary n..
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A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness autosomal dominant 2 |
CSNBAD2; Rambusch type congenital stationary night..
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A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1F |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1B |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1H |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1C |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1D |
congenital stationary night blindness 1D autosomal..
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A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1E |
A congenital stationary night blindness characteri..[+]
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congenital stationary night blindness 1A |
A congenital stationary night blindness that has_m..[+]
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congenital stationary night blindness 2A |
congenital stationary night blindness 2A X-linked; ..
[+]
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A congenital stationary night blindness that has_m..[+]
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childhood hypophosphatasia |
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A hypophosphatasia that has_material_basis_in an a..[+]
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cone-rod dystrophy 2 |
A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 1 |
CRD1; CORD1
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 5 |
CORD5
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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cone-rod dystrophy 6 |
CORD6; RCD2; retinal cone dystrophy 2
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A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 7 |
CORD7
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 3 |
CORD3
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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1 articles | |
cone-rod dystrophy 8 |
CORD8
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 13 |
CORD13
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A cone-rod dystrophy that has_material_basis_in mu..[+]
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cone-rod dystrophy 10 |
CORD10
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A cone-rod dystrophy that has_material_basis_in co..[+]
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cone-rod dystrophy 11 |
CORD11
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A cone-rod dystrophy that has_material_basis_in he..[+]
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cone-rod dystrophy 12 |
CORD12
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 9 |
CORD9
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 15 |
CORD15
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 16 |
CORD16; retinal dystrophy with early macular invol..
[+]
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 17 |
CORD17
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A cone-rod dystrophy that has_material_basis_in va..[+]
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cone-rod dystrophy 18 |
CORD18
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 19 |
CORD19
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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cone-rod dystrophy 20 |
CORD20
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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CADASIL 1 |
autosomal dominant cerebral arteriopathy with subc..
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A CADASIL characterized by migraine, strokes, and ..[+]
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CADASIL 2 |
autosomal dominant cerebral arteriopathy with subc..
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A CADASIL characterized by stroke, transient ische..[+]
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congenital bile acid synthesis defect 5 |
CBAS5
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 6 |
CBAS6
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 4 |
CBAS4; intrahepatic cholestasis with defective con..
[+]
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 2 |
cholestasis with delta(4)-3-oxosteroid 5-beta-redu..
[+]
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 3 |
CBAS3; oxysterol 7-alpha-hydroxylase deficiency
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A congenital bile acid synthesis defect characteri..[+]
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congenital bile acid synthesis defect 1 |
CBAS1
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A congenital bile acid synthesis defect characteri..[+]
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congenital generalized lipodystrophy type 1 |
CGL1; Berardinelli-Seip Congenital Lipodystrophy, ..
[+]
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A congenital generalized lipodystrophy that has_ma..[+]
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