Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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astrocytoma, IDH-mutant, grade 4 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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astroblastoma, MN1-altered |
CNS high-grade neuroepithelial tumors with MN1 alt..
[+]
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An astroblastoma that is characterized by astrobla..[+]
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apolipoprotein A-IV associated amyloidosis |
AApoAIV amyloidosis; renal AApoAIV amyloidosis
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An amyloidosis that is characterized by slowly pro..[+]
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acquired angioedema |
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An angioedema that is characterized by an acquired..[+]
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anauxetic dysplasia |
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A spondyloepimetaphyseal dysplasia that is charact..[+]
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abdominal obesity-metabolic syndrome 4 |
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An abdominal obesity-metabolic syndrome that is ch..[+]
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acute flaccid myelitis |
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A myelitis that is characterized by acute onset of..[+]
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agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
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A syndrome that is characterized by global develop..[+]
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alopecia-mental retardation syndrome 4 |
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An alopecia-mental retardation syndrome that has_m..[+]
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alopecia-mental retardation syndrome 3 |
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An alopecia-mental retardation syndrome that has_m..[+]
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AMED syndrome |
AMEDS
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A syndrome that is characterized by global develop..[+]
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amelogenesis imperfecta type 1J |
Amelogenesis imperfecta, type IJ
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An amelogenesis imperfecta that has_material_basis..[+]
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arthrogryposis multiplex congenita |
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A nervous system disease that is characterized by ..[+]
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arrhythmogenic right ventricular dysplasia 14 |
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An arrhythmogenic right ventricular dysplasia that..[+]
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amelogenesis imperfecta type 2A6 |
Amelogenesis imperfecta, hypomaturation type, IIA6..
[+]
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An amelogenesis imperfecta that is characterized b..[+]
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anauxetic dysplasia 2 |
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A spondyloepimetaphyseal dysplasia that is has_mat..[+]
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anauxetic dysplasia 3 |
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A spondyloepimetaphyseal dysplasia that is charact..[+]
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acute myeloid leukemia with BCR-ABL1 |
Acute myeleoid leukemia with BCR-ABL1
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An acute myeloid leukemia that is characterized by..[+]
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aortic valve disease 3 |
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A bicuspid aortic valve disease that is characteri..[+]
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arthrogryposis multiplex congenita-1 |
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An arthrogryposis multiplex congenita that has_mat..[+]
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arthrogryposis multiplex congenita-3 |
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An arthrogryposis multiplex congenita that is char..[+]
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arthrogryposis multiplex congenita-4 |
Zain syndrome
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An arthrogryposis multiplex congenita that has_mat..[+]
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arthrogryposis multiplex congenita-5 |
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An arthrogryposis multiplex congenita that has_mat..[+]
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autoimmune epilepsy |
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An epilepsy that is characterized by new-onset ref..[+]
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acute necrotizing pancreatitis |
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An acute pancreatitis that is characterized by one..[+]
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A53 diffuse large B-cell lymphoma |
A53 DLBCL
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A diffuse large B-cell lymphoma that is characteri..[+]
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acute myeloid leukemia with t(6;9) (p23;q34.1) |
An acute myeloid leukemia associated with t(6; 9)(..[+]
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acute promyelocytic leukemia with PML-RARA |
acute promyelocytic leukemia, t(15; 17)(q22; q11-1..
[+]
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An acute promyelocytic leukemia that is characteri..[+]
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acute myelomonocytic leukemia |
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An acute myeloid leukemia that is characterized by..[+]
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acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) |
An acute myeloid leukemia associated with inv(3)(q..[+]
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acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) |
Acute Myeloid Leukemia with inv(16)(p13.1q22) or t..
[+]
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An acute myeloid leukemia that is characterized by..[+]
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acute myeloid leukemia with minimal differentiation |
An acute myeloid leukemia in which the blasts do n..[+]
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acute myeloid leukemia without maturation |
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An acute myeloid leukemia that is characterized by..[+]
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acute myeloid leukemia with maturation |
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An acute myeloid leukemia characterized by blasts ..[+]
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acute myeloid leukemia with mutated NPM1 |
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An acute myeloid leukemia with mutation of the nuc..[+]
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acute myeloid leukemia with biallelic mutation of CEBPA |
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An acute myeloid leukemia with double mutations of..[+]
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acute myeloid leukemia with mutated RUNX1 |
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An acute myeloid leukemia that is characterized by..[+]
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acute myeloid leukemia with myelodysplasia-related changes |
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An acute myeloid leukemia with at least 20% blasts..[+]
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acute myeloid leukemia with t(8;21); (q22; q22.1) |
An acute myeloid leukemia associated with t(8; 21)..[+]
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acute myeloid leukemia with MLL rearrangement |
An acute myeloid leukemia characterized by rearran..[+]
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acute myeloid leukemia with mutated CEBPA |
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An acute myeloid leukemia with non-germline mutati..[+]
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acute myeloid leukemia with t(1;22)(p13;q13) |
Acute Myeloid Leukemia (Megakaryoblastic) with t(1..
[+]
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An acute myeloid leukemia typically showing megaka..[+]
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autosomal recessive intellectual developmental disorder 13 |
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An autosomal recessive intellectual developmental ..[+]
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agammaglobulinemia 2 |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 1 |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 3 |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 6 |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 7 |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 8A |
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An agammaglobulinemia that has_material_basis_in h..[+]
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agammaglobulinemia 9 |
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An agammaglobulinemia that is characterized by rec..[+]
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