Additional Disease Briefs

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congenital insensitivity to pain with severe intellectual disability

Also known as: congenital absence of pain with severe intellectual disability, congenital analgesia with severe intellectual disability, congenital insensitivity to pain with preserved temperature sensation, congenital insensitivity to pain with severe non-progressive cognitive delay


congenital isolated adrenocorticotropic hormone deficiency

Also known as: ACTH deficiency, isolated, IAD, adrenocorticotropic hormone deficiency, congenital isolated ACTH deficiency, congenital isolated adrenocorticotropic hormone deficiency (disease), isolated ACTH deficiency, isolated adrenocorticotropic hormone deficiency




congenital lactase deficiency

Also known as: Alactasia, congenital, congenital lactase deficiency, disaccharide intolerance 2, lactase deficiency, congenital


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Also known as: COX deficiency, French-Canadian type, Cox deficiency, French Canadian type, Cox deficiency, Saguenay Lac saint Jean type, Cox deficiency, Saguenay-Lac-Saint-Jean type, LSFC, Leigh syndrome, French Canadian type, Leigh syndrome, French-Canadian type, Leigh syndrome, Saguenay Lac saint Jean type, Leigh syndrome, Saguenay-Lac-Saint-Jean type, SLSJ-COX deficiency, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, cytochrome C oxidase deficiency, French Canadian type, cytochrome C oxidase deficiency, French-Canadian type, cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type, mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)