Worldwide Rare disases experts by disease
A curated directory of experts by rare disease, including their contact information, institution and country/location. Please enter a disease on the search field to search for experts in our knowledge base.
Experts by disease
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ichthyosis hystrix of curth-macklin expert list |
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monilethrix expert list |
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pachyonychia congenita expert list |
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superficial epidermolytic ichthyosis expert list |
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autosomal dominant epilepsy with auditory features expert list |
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autosomal dominant focal dystonia, dyt25 type expert list |
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autosomal dominant hyper-ige syndrome expert list |
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loeys-dietz syndrome expert list |
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autosomal dominant hypohidrotic ectodermal dysplasia expert list |
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autosomal recessive hypohidrotic ectodermal dysplasia expert list |
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cleidocranial dysplasia expert list |
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autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain expert list |
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autosomal dominant limb-girdle muscular dystrophy type 1b expert list |
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familial isolated dilated cardiomyopathy expert list |
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autosomal dominant non-syndromic intellectual disability expert list |
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autosomal recessive non-syndromic intellectual disability expert list |
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early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation expert list |
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autosomal dominant non-syndromic sensorineural deafness type dfna expert list |
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foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome expert list |
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hemolytic anemia due to red cell pyruvate kinase deficiency expert list |