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Disease Synonyms Description Articles Phenotypes
BH4-deficient hyperphenylalaninemia B
GTP cyclohydrolase 1 deficiency; HPABH4B; tetrahyd.. [+]
A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
BH4-deficient hyperphenylalaninemia C
tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+]
A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
BH4-deficient hyperphenylalaninemia D
tetrahydrobiopterin (BH4)-deficient hyperphenylala.. [+]
A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
BN2 diffuse large B-cell lymphoma
BN2 DLBCL;
A diffuse large B-cell lymphoma that is categorize..[+]
Baastrup's syndrome
Baastrup syndrome; Kissing spine;
n_a
Bainbridge-Ropers syndrome
ASXL3-related disorder;
A syndrome that is characterized by delayed psycho..[+]
1 articles
Balkan hemorrhagic fever
A hemorrhagic fever with renal syndrome that resul..[+]
Balkan nephropathy
Danubian endemic familial nephropathy; DEFN ; Balk.. [+]
An interstitial nephritis endemic to the regions a..[+]
Ballard syndrome
Ballard type brachydactyly; brachydactyly types B .. [+]
A brachydactyly characterized by autosomal dominan..[+]
Baller-Gerold syndrome
A synostosis characterized by coronal craniosynost..[+]
Balo concentric sclerosis
Balo's concentric sclerosis; Balo disease; Tumefac.. [+]
A multiple sclerosis that is characterized by conc..[+]
Bamforth-Lazarus syndrome
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+]
A hypothyroidism that is characterized by thyroid ..[+]
Bannayan-Riley-Ruvalcaba syndrome
BANNAYAN-ZONANA SYNDROME; RILEY-SMITH SYNDROME; RU.. [+]
A Cowden syndrome that is characterized by macroce..[+]
Baraitser-Winter syndrome
A syndrome characterized by distinctive facial fea..[+]
Baraitser-Winter syndrome 1
A Baraitser-Winter syndrome that has_material_basi..[+]
Baraitser-Winter syndrome 2
A Baraitser-Winter syndrome that has_material_basi..[+]
Barber-Say syndrome
A syndrome characterized by d by the association o..[+]
Bardet-Biedl syndrome
A syndrome that results from mutations in multiple..[+]
6 articles
Bardet-Biedl syndrome 1
BBS1;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 10
BBS10;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 11
BBS11;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 12
BBS12;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
1 articles
Bardet-Biedl syndrome 13
BBS13;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 14
BBS14;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 15
BBS15;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 16
BBS16;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 17
BBS17;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 18
BBS18;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 19
BBS19;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 2
BBS2;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 20
A Bardet-Biedl syndrome that is characterized by r..[+]
Bardet-Biedl syndrome 21
A Bardet-Biedl syndrome that is characterized by o..[+]
Bardet-Biedl syndrome 22
A Bardet-Biedl syndrome that is retinitis pigmento..[+]
Bardet-Biedl syndrome 3
BBS3;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 4
BBS4;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 5
BBS5;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
1 articles
Bardet-Biedl syndrome 6
BBS6;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 7
BBS7;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 8
BBS8;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Bardet-Biedl syndrome 9
BBS9;
A Bardet-Biedl syndrome that has_material_basis_in..[+]
Barmah Forest virus disease
A viral infectious disease that results_in infecti..[+]
Barre-Lieou syndrome
Cervicocranial syndrome; Cervicocranial syndrome (.. [+]
A syndrome that involves occipital head aches, nys..[+]
Barrett's adenocarcinoma
adenocarcinoma Arising in Barrett's Mucosa; Barret.. [+]
n_a
Barrett's esophagus
(ulcerative esophagitis) or (Barrett's esophagus);.. [+]
An esophageal disease characterized by a change of..[+]
1 articles
Bart-Pumphrey syndrome
KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+]
A syndrome that is characterized by leukonychia, w..[+]
1 articles
Barth syndrome
3-methylglutaconicaciduria type 2; 3-methylglutaco.. [+]
A 3-methylglutaconic aciduria that has_material_ba..[+]
Bartholin's duct cyst
Cyst of Bartholin's gland; Cyst of Bartholin's gla.. [+]
A female reproductive system disease that is chara..[+]
Bartholin's gland adenocarcinoma
adenocarcinoma of the Bartholin's gland; Bartholin.. [+]
A Bartholin's gland carcinoma that derives_from ep..[+]
Bartholin's gland adenoid cystic carcinoma
Bartholin gland adenoid cystic carcinoma;
n_a
Bartholin's gland adenoma
Bartholin gland adenoma;
A Bartholin's gland benign neoplasm that is charac..[+]

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