Additional Disease Briefs
Also known as:
HMDPC, HMNDYT1, cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome, hypermanganesemia with dystonia 1, hypermanganesemia with dystonia polycythemia and cirrhosis, hypermanganesemia with dystonia, polycythemia, and cirrhosis
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
Also known as:
cirrhosis, familial
Also known as:
citrin deficiency
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
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
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
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
Also known as:
genetic deficiency of early component of the classical complement pathway