Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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developmental and epileptic encephalopathy 42 |
DEE42; early infantile epileptic encephalopathy 42..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 52 |
DEE52; early infantile epileptic encephalopathy 52..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 46 |
DEE46; early infantile epileptic encephalopathy 46..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 35 |
DEE35; early infantile epileptic encephalopathy 35..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 12 |
DEE12; early infantile epileptic encephalopathy 12..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 34 |
DEE34; early infantile epileptic encephalopathy 34..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 26 |
DEE26; early infantile epileptic encephalopathy 26..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 7 |
early infantile epileptic encephalopathy 7; KCNQ2-..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 33 |
DEE33; early infantile epileptic encephalopathy 33..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 53 |
DEE53; early infantile epileptic encephalopathy 53..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 30 |
DEE30; early infantile epileptic encephalopathy 30..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 2 |
DEE2; EIEE2; X-linked infantile spasm syndrome 2; ..
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A developmental and epileptic encephalopathy chara..[+]
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1 articles | |
developmental and epileptic encephalopathy 1 |
DEE1; early infantile epileptic encephalopathy 1; ..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 36 |
congenital disorder of glycosylation, type Is; ear..
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 92 |
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 91 |
infantile or early childhood epileptic encephalopa..
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A developmental and epileptic encephalopathy chara..[+]
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developmental delay and seizures with or without movement abnormalities |
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A syndromic intellectual disability characterized ..[+]
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differentiated high-grade thyroid carcinoma |
differentiated thyroid gland carcinoma
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A thyroid gland adenocarcinoma characterized by ex..[+]
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dedifferentiated liposarcoma |
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A liposarcoma that is characterized as a high-grad..[+]
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developmental cardiac valvular defect |
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A physical disorder that has_material_basis_in hom..[+]
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diaphyseal medullary stenosis with malignant fibrous histiocytoma |
diaphyseal medullary stenosis-malignant fibrous hi..
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An osteochondrodysplasia that is characterized by ..[+]
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diffuse midline glioma, H3 K27M-mutant |
diffuse intrinsic pontine glioma
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A histone mutated tumor that is characterized by t..[+]
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developmental and epileptic encephalopathy 82 |
DEE82; early infantile epileptic encephalopathy 82..
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A developmental and epileptic encephalopathy chara..[+]
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diffuse gastric cancer |
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A stomach cancer that is characterized by developm..[+]
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delta beta-thalassemia |
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A beta thalassemia that is characterized by decrea..[+]
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diffuse glioma, H3 G34 mutant |
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A histone mutated tumor that has_material_basis_in..[+]
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dialysis-related amyloidosis |
dialysis-related beta2-microglobulin amyloidosis; ..
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An amyloidosis that is characterized by the deposi..[+]
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diffuse large B-cell lymphoma activated B-cell type |
DLBCL ABC type
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A diffuse large B-cell lymphoma that is characteri..[+]
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diffuse large B-cell lymphoma germinal center B-cell type |
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A diffuse large B-cell lymphoma that is characteri..[+]
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dipsogenic diabetes insipidus |
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A diabetes insipidus that is characterized by exce..[+]
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DICER1 syndrome |
Pleuro-pulmonary blastoma familial tumor susceptib..
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A syndrome that is characterized by an increased r..[+]
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DeSanto-Shinawi syndrome |
Chromosome 10p12-p11 deletion syndrome; Facial dys..
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A syndrome that is characterized by global develop..[+]
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dilated cardiomyopathy 1LL |
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A dilated cardiomyopathy that has_material_basis_i..[+]
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dilated cardiomyopathy 1MM |
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A dilated cardiomyopathy that has_material_basis_i..[+]
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dilated cardiomyopathy 2C |
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A dilated cardiomyopathy that is characterized by ..[+]
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dilated cardiomyopathy 2D |
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A dilated cardiomyopathy that is characterized by ..[+]
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dilated cardiomyopathy 2E |
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A dilated cardiomyopathy that is characterized by ..[+]
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dilated cardiomyopathy 2F |
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A dilated cardiomyopathy that is characterized by ..[+]
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dilated cardiomyopathy 2G |
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A dilated cardiomyopathy that is characterized by ..[+]
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dilated cardiomyopathy 3B |
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A dilated cardiomyopathy that has_material_basis_i..[+]
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dedifferentiated chondrosarcoma |
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A chondrosarcoma that is an aggressive morphologic..[+]
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desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma |
desmoplastic infantile ganglioglioma and desmoplas..
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A ganglioglioma occurring predominantly in the cer..[+]
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diffuse low-grade glioma, MAPK pathway–altered |
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A low grade glioma that is characterized by a gene..[+]
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developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome |
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A syndrome that is characterized by developmental ..[+]
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diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
diffuse paediatric-type high-grade glioma, H3-wild..
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A high grade glioma that is characterized by the a..[+]
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diffuse astrocytoma, MYB- or MYBL1-altered |
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A diffuse astrocytoma that is a diffusely infiltra..[+]
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diffuse leptomeningeal glioneuronal tumor |
Diffuse leptomeningeal glioneuronal tumour
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A central nervous system benign neoplasm that is c..[+]
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developmental and epileptic encephalopathy 94 |
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A developmental and epileptic encephalopathy chara..[+]
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distal myopathy with rimmed vacuoles |
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A distal myopathy that is characterized by adult o..[+]
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disabling pansclerotic morphea |
disabling pansclerotic morphea of childhood
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A localized scleroderma that is characterized by t..[+]
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