Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
ICF syndrome 4
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An immunodeficiency-centromeric instability-facial..[+]
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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
A hypersensitivity reaction type II disease charac..[+]
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isolated cleft palate |
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A cleft palate seen as an isolated malformation, d..[+]
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inflammatory bowel disease 7 |
IBD7
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 17 |
IBD17
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 23 |
IBD23
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 10 |
An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 9 |
IBD9
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 12 |
IBD12
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 18 |
IBD18
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 5 |
IBD5
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 19 |
An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 3 |
IBD3
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 1 |
IBD1
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 13 |
IBD13
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 11 |
IBD11
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 14 |
IBD14
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 16 |
IBD16
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 15 |
IBD15
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 20 |
IBD20
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 28 |
IBD28; early onset autosomal recessive inflammator..
[+]
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An inflammatory bowel disease characterized by aut..[+]
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inflammatory bowel disease 2 |
IBD2
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 26 |
IBD26
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 27 |
IBD27
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 4 |
IBD4
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 8 |
IBD8
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 22 |
IBD22
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 21 |
IBD21
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 6 |
IBD6
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 24 |
IBD24
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An inflammatory bowel disease that has_material_ba..[+]
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inflammatory bowel disease 25 |
IBD25; early onset autosomal recessive inflammator..
[+]
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An inflammatory bowel disease characterized by aut..[+]
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infantile hypophosphatasia |
Hops; phosphoethanolaminuria
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A hypophosphatasia that has_material_basis_in an a..[+]
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IGSF1 deficiency syndrome |
central hypothyroidism and testicular enlargement; ..
[+]
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An X-linked disease characterized by hypothyroidis..[+]
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isolated ectopia lentis |
IEL; familial ectopia lentis
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A lens disease characterized by abnormal stretchin..[+]
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idiopathic generalized epilepsy 10 |
EIG10
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 14 |
EIG14
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 2 |
EIG2
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An idiopathic generalized epilepsy that has_materi..[+]
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idiopathic generalized epilepsy 8 |
EIG8
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An idiopathic generalized epilepsy that has_materi..[+]
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isolated hyperchlorhidrosis |
carbonic anhydrase XII deficiency; HYCHL
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A skin disease characterized by excessive loss of ..[+]
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 |
IBMPFD1; MSP1; multisystem proteinopathy 1
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An inclusion body myopathy with Paget disease of b..[+]
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intellectual developmental disorder with short stature and behavioral abnormalities |
IDDSSBA
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A syndrome characterized by intellectual disabilit..[+]
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infantile hypertrophic cardiomyopathy |
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A hypertrophic cardiomyopathy characterized by iso..[+]
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immunodeficiency 16 |
IMD16; combined immunodeficiency due to OX40 defic..
[+]
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A combined T cell and B cell immunodeficiency char..[+]
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immunodeficiency 22 |
IMD22; SCID due to LCK deficiency; SCID due to lym..
[+]
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A severe combined immunodeficiency characterized b..[+]
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immunodeficiency 31A |
IMD31A; autosomal dominant immunodeficiency 31A, m..
[+]
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A primary immunodeficiency disease characterized b..[+]
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immunodeficiency 21 |
IMD21; combined immunodeficiency with susceptibili..
[+]
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A primary immunodeficiency disease characterized b..[+]
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immunodeficiency 57 |
A primary immunodeficiency disease characterized b..[+]
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immunodeficiency 27B |
IMD27B; autosomal dominant IFNGR1 deficiency; auto..
[+]
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A primary immunodeficiency disease characterized b..[+]
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immunodeficiency 15B |
IMD15B
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A severe combined immunodeficiency characterized b..[+]
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immunodeficiency 15A |
IMD15A
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A combined T cell and B cell immunodeficiency char..[+]
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