Additional Disease Briefs

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cirrhosis, familial

Also known as: Indian childhood cirrhosis, Sen syndrome, cirrhosis, Noncryptogenic, susceptibility to, cirrhosis, cryptogenic, cirrhosis, familial, cirrhosis, familial, with pulmonary hypertension, copper toxicosis, idiopathic, copper-overload cirrhosis, cryptogenic cirrhosis, endemic Tyrolean infantile cirrhosis, hereditary cirrhosis of liver





citrullinemia type I

Also known as: ASS deficiency, CTLN1, CTNL1, Citrullinuria, argininosuccinate synthase deficiency, argininosuccinate synthetase deficiency, argininosuccinic acid synthase deficiency, argininosuccinic acid synthetase deficiency, citrullinemia, citrullinemia 1, citrullinemia type 1, citrullinemia type I, citrullinemia, classic, citrullinemia, type 1, classic citrullinemia


CK syndrome

Also known as: CK syndrome, CK syndrome, X-linked recessive, X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome, intellectual disability, X-linked, with thin body habitus and cortical malformation, mental retardation, X-linked, with thin body habitus and cortical malformation


CLAPO syndrome

Also known as: CLAPO syndrome, somatic, Clapo, Lopez-Gutierrez syndrome, capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth


Clark-Baraitser syndrome

Also known as: Baraitser syndrome, Clark-Baraitser syndrome, MRD49, autosomal dominant intellectual disability 49, autosomal dominant mental retardation 49, intellectual disability, autosomal dominant 49, intellectual disability, tall stature, obesity, macrocephaly and typical facial features, mental retardation, autosomal dominant 49, mental retardation, tall stature, obesity, macrocephaly and typical facial features