Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Burn-McKeown syndrome |
Choanal atresia - deafness - cardiac defects - dys..
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A syndrome that is characterized by bilateral choa..[+]
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BASAN syndrome |
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An ectodermal dysplasia that is characterized by n..[+]
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beta-thalassemia major |
Cooley's anemia
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A beta thalassemia that is characterized by severe..[+]
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beta-thalassemia intermedia |
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A beta thalassemia that is characterized by mild t..[+]
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benign exocrine pancreas neoplasm |
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An endocrine organ benign neoplasm arising from th..[+]
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Brown-Vialetto-Van Laere syndrome 1 |
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A Brown-Vialetto-Van Laere syndrome that is charac..[+]
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Bainbridge-Ropers syndrome |
ASXL3-related disorder
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A syndrome that is characterized by delayed psycho..[+]
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1 articles | |
bladder sarcomatoid transitional cell carcinoma |
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A sarcomatoid transitional cell carcinoma that is ..[+]
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bladder small cell carcinoma |
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A bladder carcinoma that is characterized as an un..[+]
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bilateral frontal polymicrogyria |
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A polymicrogyria that is characterized as a symmet..[+]
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bilateral frontoparietal polymicrogyria |
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A polymicrogyria that is characterized by excessiv..[+]
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bilateral parasagittal parieto-occipital polymicrogyria |
bilateral temporooccipital polymicrogyria
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A polymicrogyria that is characterized by bilatera..[+]
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bilateral perisylvian polymicrogyria |
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A polymicrogyria that is characterized by striking..[+]
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Bardet-Biedl syndrome 20 |
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A Bardet-Biedl syndrome that is characterized by r..[+]
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Bardet-Biedl syndrome 22 |
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A Bardet-Biedl syndrome that is retinitis pigmento..[+]
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benign peritoneal solitary fibrous tumor |
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A peritoneal benign neoplasm that is characterized..[+]
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B-cell prolymphocytic leukemia |
B Cell Prolymphocytic Leukemia; Prolymphocytic leu..
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A prolymphocytic leukemia that is characterized by..[+]
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BN2 diffuse large B-cell lymphoma |
BN2 DLBCL
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A diffuse large B-cell lymphoma that is categorize..[+]
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blastic plasmacytoid dendritic cell neoplasm |
An acute leukemia that is derived from the precurs..[+]
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Baraitser-Winter syndrome 1 |
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A Baraitser-Winter syndrome that has_material_basi..[+]
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Baraitser-Winter syndrome 2 |
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A Baraitser-Winter syndrome that has_material_basi..[+]
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benign familial infantile seizures 1 |
Benign Familial Infantile Seizures, 1
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A benign familial infantile epilepsy that is chara..[+]
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benign familial infantile seizures 2 |
Benign Familial Infantile Seizures, 2
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A benign familial infantile epilepsy that is chara..[+]
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benign familial infantile seizures 3 |
A benign familial infantile epilepsy that is chara..[+]
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benign familial infantile seizures 4 |
Benign Familial Infantile Seizures, 4
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A benign familial infantile epilepsy that is chara..[+]
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benign familial infantile seizures 5 |
Benign Familial Infantile Seizures, 5
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A benign familial infantile epilepsy that is chara..[+]
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benign familial infantile seizures 6 |
Benign Familial Infantile Seizures, 6; Autosomal d..
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A benign familial infantile epilepsy that is chara..[+]
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BH4-deficient hyperphenylalaninemia C |
tetrahydrobiopterin (BH4)-deficient hyperphenylala..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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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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Becker disease |
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A myotonia congenita that is characterized by musc..[+]
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BCOR ITD sarcoma |
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A sarcoma with BCOR genetic alterations that is ch..[+]
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BCOR-CCNB3 sarcoma |
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A sarcoma with BCOR genetic alterations that is ch..[+]
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B acute lymphoblastic leukemia with PAX5 P80R mutation |
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A B-lymphoblastic leukemia/lymphoma that is associ..[+]
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B acute lymphoblastic leukemia with DUX4 rearrangement |
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A B lymphoblastic leukemia/lymphoma that is associ..[+]
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blepharophimosis-impaired intellectual development syndrome |
SMARCA2-related blepharophimosis-intellectual disa..
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A syndrome that is characterized by a distinct fac..[+]
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BH4-deficient hyperphenylalaninemia A |
HPABH4A; hyperphenylalaninemia due to 6-pyruvoylte..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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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 amino acid metabolic disorder that is character..[+]
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brachyolmia-amelogenesis imperfecta syndrome |
dental anomalies and short stature; STHAG6; DASS; ..
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A syndrome characterized by skeletal dysplasia (br..[+]
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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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1 articles | |
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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