Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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focal nonepidermolytic palmoplantar keratoderma |
isolated focal non-epidermolytic palmoplantar kera..
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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partial cryptophthalmia |
incomplete cryptophthalmos
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An isolated cryptophthalmia characterized by an il..[+]
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X-linked spinal muscular atrophy 2 |
infantile-onset X-linked spinal muscular atrophy; ..
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A spinal muscular atrophy characterized by neonata..[+]
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Tonne-Kalscheuer syndrome |
intellectual developmental disorder with or withou..
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A syndromic X-linked intellectual disability chara..[+]
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X-Linked immunodeficiency 74 |
IMD74; respiratory insufficiency due to SARS-CoV-2..
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A T cell deficiency characterized by severe respir..[+]
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SHOX-related short stature |
idiopathic familial short stature
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A bone development disease characterized by height..[+]
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severe congenital neutropenia 3 |
infantile agranulocytosis; Kostmann disease; Kostm..
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A severe congenital neutropenia characterized by b..[+]
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thyroid dyshormonogenesis 1 |
iodide accumulation, transport, or trapping defect..
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A familial thyroid dyshormonogenesis that has_mate..[+]
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thyroid dyshormonogenesis 2A |
iodide peroxidase deficiency; TDH2A; thyroid perox..
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A familial thyroid dyshormonogenesis that has_mate..[+]
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thyroid dyshormonogenesis 4 |
iodotyrosine dehalogenase deficiency; deiodinase d..
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A familial thyroid dyshormonogenesis that has_mate..[+]
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developmental and epileptic encephalopathy 93 |
infantile or early childhood epileptic encephalopa..
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A developmental and epileptic encephalopathy chara..[+]
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