Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
CADASIL +
carbohydrate metabolic disorder +
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
cardiac amyloidosis
Carnitine Acetyltransferase Deficiency
cerebral amyloid angiopathy +
An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)
cerebral artery occlusion
CHITOTRIOSIDASE DEFICIENCY
Chromate Resistance
Combined Congenital Deficiency of Intrinsic Factor and R Binder
Combined Defect of Growth Factors
Combined Exocrine Pancreatic Insufficiency
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
congenital leptin deficiency
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
Copper Deficiency, Familial Benign
Coumarin Sensitivity
Deafness Hyperuricemia Neurologic Ataxia
Decreased Urinary Activity of Kallikrein
Defect in Hyaluronan Metabolism
Defect in Hydroxylation of Diphenylhydantoin
Deficient N-Hydroxylation of Amobarbital
Deoxyribose-5-Phosphate Aldolase Deficiency
dialysis-related amyloidosis
dopamine beta-hydroxylase deficiency
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Efavirenz, Poor Metabolism of
enterokinase deficiency
Ethanolaminosis
Familial Amyloidosis +
familial erythrocytosis 8
familial hypocalciuric hypercalcemia +
Familial Hypokalemia +
FUCOSYLTRANSFERASE 6 DEFICIENCY
Glucocorticoid Receptor Deficiency
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency