Additional Disease Briefs

Rare Disease Database Reports Additional Rare Disease Briefs

diarrhea-vomiting due to trehalase deficiency

Also known as: isolated trehalose intolerance, trehalase deficiency, trehalose intolerance

diastematomyelia

Also known as: Dimyelia, Pseudodiplomyelia, SCM type 1, SSCM, diastematomyelia, diplomyelia, split cord malformation, split cord malformation type 1, split spinal cord malformation

diazoxide-resistant diffuse hyperinsulinism

Also known as: hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

diazoxide-resistant focal hyperinsulinism

Also known as: hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Also known as: hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form

diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Also known as: hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form

diazoxide-resistant hyperinsulinism

Also known as: diazoxide-resistant hyperinsulinemic hypoglycemia

dicarboxylic aminoaciduria

Also known as: DCBXA, Dicarboxylicaminoaciduria, dicarboxylic aminoaciduria, glutamate-aspartate Transport defect, glutamate-aspartate transport defect

didelphys uterus

Also known as: Bicervical bicornuate uterus

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