Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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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 homo..[+]
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IGSF1 deficiency syndrome |
CHTE; X-linked central congenital hypothyroidism w..
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A syndrome characterized by hypothyroidism that is..[+]
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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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infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
postnatal progressive microcephaly, seizures, and ..
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A brain disease characterized by cerebral and cere..[+]
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isolated sulfite oxidase deficiency |
sulfocysteinuria
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An inherited metabolic disorder characterized by i..[+]
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intellectual disability-severe speech delay-mild dysmorphism syndrome |
FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental r..
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A syndromic intellectual disability characterized ..[+]
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isolated elevated serum creatine phosphokinase levels |
An inherited metabolic disorder characterized by e..[+]
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isolated hyperchlorhidrosis |
HYCHL; carbonic anhydrase XII deficiency
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A skin disease characterized by excessive loss of ..[+]
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IVIC syndrome |
Instituto Venezolano de Investigaciones Cientifica..
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A syndrome characterized by radial ray defect of v..[+]
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ischiocoxopodopatellar syndrome |
A dysostosis characterized by hypoplasia or aplasi..[+]
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1 articles | ||
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 |
IBMPFD3; MSP3; multisystem proteinopathy 3
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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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isolated cryptophthalmia |
CRYPTOP; unilateral or bilateral isolated cryptoph..
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A cryptophthalmia characterized by absence of the ..[+]
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infantile hypertrophic cardiomyopathy |
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A hypertrophic cardiomyopathy characterized by iso..[+]
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ichthyosis follicularis-alopecia-photophobia syndrome 1 |
IFAP syndrome 1 with or without BRESHECK syndrome; ..
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A syndrome characterized by ichthyosis folliculari..[+]
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immunodeficiency 38 |
immunodeficiency 38, mycobacteriosis, autosomal re..
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A primary immunodeficiency disease characterized b..[+]
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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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