Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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 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 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(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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agammaglobulinemia 6 |
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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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agammaglobulinemia 8B |
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An agammaglobulinemia that is characterized by ons..[+]
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autosomal recessive intellectual developmental disorder 1 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 12 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 5 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 7 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 14 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 30 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 24 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 37 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 41 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 45 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 52 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 56 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 60 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 65 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 68 |
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An autosomal recessive intellectual developmental ..[+]
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autosomal recessive intellectual developmental disorder 76 |
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An autosomal recessive intellectual developmental ..[+]
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acromesomelic dysplasia-3 |
Demirhan-type acromesomelic dysplasia
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An acromesomelic dysplasia that has_material_basis..[+]
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astrocytoma, IDH-mutant, grade 2 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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astrocytoma, IDH-mutant, grade 3 |
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An IDH-mutant anaplastic astrocytoma that is chara..[+]
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amyotrophic lateral sclerosis type 25 |
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An amyotrophic lateral sclerosis that is character..[+]
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amyotrophic lateral sclerosis type 26 |
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An amyotrophic lateral sclerosis that is character..[+]
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agenesis of the corpus callosum with peripheral neuropathy |
Andermann syndrome; Charlevoix disease; corpus cal..
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A neurodegenerative disease characterized by autos..[+]
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autosomal dominant familial periodic fever |
familial hibernian fever; TNF receptor 1-associate..
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A characterized by autosomal dominant inheritance ..[+]
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autosomal dominant macrothrombocytopenia TUBB1-related |
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A thrombocytopenia characterized by autosomal domi..[+]
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autosomal recessive hypercholesterolemia |
A familial hypercholesterolemia that is characteri..[+]
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autosomal dominant hypocalcemia 1 |
HYPOC1
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An autosomal dominant hypocalcemia disease that ha..[+]
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autosomal dominant hypocalcemia 2 |
HYPOC2
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An autosomal dominant hypocalcemia disease that ha..[+]
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autosomal dominant hypocalcemia |
HYPOC
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A calcium metabolism disease characterized by auto..[+]
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ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
ankyloblepharon-ectodermal defects-cleft lip and p..
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An ectodermal dysplasia that is characterized by a..[+]
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apparent mineralocorticoid excess |
APE; 11-beta-hydroxysteroid dehydrogenase deficien..
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An adrenal gland hyperfunction characterized by de..[+]
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aromatase excess syndrome |
AEXS; familial hyperestrogenism; hereditary prepub..
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A reproductive system disease characterized by inc..[+]
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aromatic L-amino acid decarboxylase deficiency |
AADC deficiency
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An inherited metabolic disorder characterized by r..[+]
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achromatopsia 2 |
ACHM2; RMCH2; rod monochromacy 2; rod monochromati..
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An achromatopsia that has_material_basis_in homozy..[+]
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achromatopsia 3 |
An achromatopsia that has_material_basis_in homozy..[+]
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achromatopsia 7 |
ACHM7
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An achromatopsia that has_material_basis_in homozy..[+]
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achromatopsia 4 |
ACHM4
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An achromatopsia that has material basis in homozy..[+]
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advanced sleep phase syndrome 1 |
familial advanced sleep phase syndrome 1; FASPS1
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An advanced sleep phase syndrome that has material..[+]
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advanced sleep phase syndrome 2 |
familial advanced sleep phase syndrome 2; FASPS2
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An advanced sleep phase syndrome that has_material..[+]
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advanced sleep phase syndrome 3 |
familial advanced sleep phase syndrome 3; FASPS3
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An advanced sleep phase syndrome that has material..[+]
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age related macular degeneration 1 |
ARMD1; age related maculopathy 1
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An age related macular degeneration associated wit..[+]
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age related macular degeneration 2 |
ARMD2
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 4 |
ARMD4
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An age related macular degeneration conferred by v..[+]
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age related macular degeneration 6 |
ARMD6
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An age related macular degeneration conferred by h..[+]
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