Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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BH4-deficient hyperphenylalaninemia D |
tetrahydrobiopterin (BH4)-deficient hyperphenylala..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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breast implant illness |
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A syndrome that is characterized by fatigue, probl..[+]
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Bh4-deficient hyperphenylalaninemia A |
6-pyruvoyl-tetrahydropterin synthase deficiency; H..
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An amino acid metabolic disorder characterized by ..[+]
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brain small vessel disease 1 |
A brain small vessel disease that is characterized..[+]
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branched-chain keto acid dehydrogenase kinase deficiency |
An autosomal recessive disease characterized by au..[+]
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brachyolmia-amelogenesis imperfecta syndrome |
DASS; dental anomalies and short stature; platyspo..
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An autosomal recessive disease characterized by sk..[+]
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Bardet-Biedl syndrome 1 |
BBS1
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 2 |
BBS2
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 3 |
BBS3
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 4 |
BBS4
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A Bardet-Biedl syndrome that has_material_basis_in..[+]
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Bardet-Biedl syndrome 5 |
BBS5
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 6 |
BBS6
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 7 |
BBS7
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A Bardet-Biedl syndrome that has_material_basis_in..[+]
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Bardet-Biedl syndrome 8 |
BBS8
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 9 |
BBS9
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 10 |
BBS10
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 11 |
BBS11
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 12 |
BBS12
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 13 |
BBS13
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A Bardet-Biedl syndrome that has_material_basis_in..[+]
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Bardet-Biedl syndrome 14 |
BBS14
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 15 |
BBS15
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A Bardet-Biedl syndrome that has_material_basis_in..[+]
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Bardet-Biedl syndrome 16 |
BBS16
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 17 |
BBS17
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 18 |
BBS18
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bardet-Biedl syndrome 19 |
BBS19
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A Bardet-Biedl syndrome that has material basis in..[+]
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Bartter disease type 1 |
A Bartter disease that has_material_basis_in homoz..[+]
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Bartter disease type 2 |
A Bartter disease that has_material_basis_in homoz..[+]
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Bartter disease type 3 |
A Bartter disease that has_material_basis_in homoz..[+]
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Bartter disease type 4a |
A Bartter disease that has_material_basis_in homoz..[+]
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Bartter disease type 4b |
A Bartter disease that has material basis in simul..[+]
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Bartter disease type 5 |
A Bartter disease that has_material_basis_in mutat..[+]
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Brugada syndrome 1 |
BRGDA1
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 2 |
BRGDA2
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 3 |
BRGDA3
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 4 |
BRGDA4
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 5 |
BRGDA5
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 6 |
BRGDA6
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 7 |
BRGDA7
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 8 |
BRGDA8
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 9 |
BRGDA9
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A Brugada syndrome that has material basis in hete..[+]
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brachydactyly-preaxial hallux varus syndrome |
Christian brachydactyly; preaxial brachydactyly wi..
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A brachydactyly characterized by autosomal dominan..[+]
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Ballard syndrome |
A brachydactyly characterized by autosomal dominan..[+]
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brachydactyly type A1 |
BDA1; Farabee type brachydactyly
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A brachydactyly characterized by rudimentary or fu..[+]
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brachydactyly type A2 |
A brachydactyly characterized by autosomal dominan..[+]
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brachydactyly type A3 |
A brachydactyly characterized by shortening of the..[+]
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brachydactyly type A4 |
A brachydactyly characterized by autosomal dominan..[+]
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brachydactyly type A6 |
brachymesophalangy with mesomelic short limbs and ..
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A brachydactyly characterized by brachymesophalang..[+]
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brachydactyly type B1 |
BDB1
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A brachydactyly characterized by short middle phal..[+]
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brachydactyly type C |
BDC
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A brachydactyly characterized by rachymesophalangy..[+]
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brachydactyly type D |
BDD
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A brachydactyly characterized by short and broad t..[+]
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