Additional Disease Briefs

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* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
diffuse lymphatic malformation

Also known as: GLA, Gla, diffuse lymphangioma, diffuse lymphangiomatosis, disseminated lymphangioma, disseminated lymphangiomatosis, disseminated lymphatic malformation, generalised lymphatic anomaly, generalized lymphatic anomaly

diffuse nonepidermolytic palmoplantar keratoderma

Also known as: KRT1-related diffuse nonepidermolytic keratoderma, NEPPK, PPK diffusa circumscripta, PPKNE, Thost-Unna disease, Thost-Unna palmoplantar keratoderma, Thost-Unna syndrome, Unna-Thost palmoplantar keratoderma, Unna-Thost syndrome, autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type, diffuse NEPPK, diffuse nonepidermolytic palmoplantar keratoderma, diffuse palmoplantar keratoderma, Bothnian type, keratoderma, nonepidermolytic palmoplantar, non-epidermolytic palmoplantar keratoderma, nonepidermolytic palmoplantar keratoderma, palmoplantar keratoderma, nonepidermolytic, tylosis

DiGeorge syndrome

Also known as: 22q deletion syndrome(s), 22q11.2 Deletion syndrome, Catch22, DGS, DGS1, Di-George syndrome, DiGeorge anomaly, DiGeorge syndrome, DiGeorge syndrome chromosome region, DiGeorge syndrome type 1, DiGeorge's syndrome, Shprintzen syndrome, Sphrintzen, Takao VCF syndrome, VCF, chromosome 22Q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, pharyngeal pouch syndrome, third and fourth pharyngeal pouch syndrome, velo-cardio-facial syndrome, velocardiofacial syndrome

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