Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
overhydrated hereditary stomatocytosis

Also known as: OHS, OHST, OVERHYDRATED hereditary stomatocytosis, Potassium sodium disorder of erythrocyte, Potassium-sodium disorder of erythrocyte, overhydrated hereditary stomatocytosis, stomatocytosis 1, stomatocytosis I

oxoglutaricaciduria

Also known as: 2 alpha ketoglutarate dehydrogenase deficiency, 2-ketoglutarate dehydrogenase deficiency, ALPHA-ketoglutarate dehydrogenase deficiency, Alpha KGD deficiency, Alpha-Kgd deficiency, Alpha-ketoglutarate dehydrogenase deficiency, Oxoglutaric aciduria, oxoglutarate dehydrogenase deficiency

pachygyria-intellectual disability-epilepsy syndrome

Also known as: Kuzniecky syndrome, pachygyria with intellectual disability and seizures, pachygyria with intellectual disability, seizures, and arachnoid cysts, pachygyria with mental retardation and seizures, pachygyria with mental retardation, seizures, and arachnoid cysts, pachygyria, intellectual disability and epilepsy, pachygyria, mental retardation and epilepsy

pachyonychia congenita 1

Also known as: Jadassohn-Lewandowsky syndrome, Jadassohn-Lewandowsky syndrome, formerly, KRT16 pachyonychia congenita, PC1, pachyonychia congenita 1, pachyonychia congenita caused by mutation in KRT16, pachyonychia congenita type 1, pachyonychia congenita, Jadassohn-Lewandowsky type, pachyonychia congenita, Jadassohn-Lewandowsky type, formerly

pachyonychia congenita 2

Also known as: KRT17 pachyonychia congenita, PC2, pachyonychia congenita 2, pachyonychia congenita caused by mutation in KRT17, pachyonychia congenita type 2, pachyonychia congenita, Jackson-Lawler type, pachyonychia congenita, Jackson-Lawler type, formerly

pachyonychia congenita 3

Also known as: KRT6A pachyonychia congenita, PC3, pachyonychia congenita 3, pachyonychia congenita caused by mutation in KRT6A, pachyonychia congenita type 3

pachyonychia congenita 4

Also known as: KRT6B pachyonychia congenita, PC4, pachyonychia congenita 4, pachyonychia congenita caused by mutation in KRT6B, pachyonychia congenita type 4

Pacinian tumor

Also known as: Pacinian neurofibroma, Pacinian tumor (morphologic abnormality), Pacinian tumour (morphologic abnormality)

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