enzymopathy
inborn error of metabolism
genetic disorder
ketoacidemia
metachromatic leukodystrophy
pathogenetics
morphopathy
galactosemia
histidinemia
proteopathy
calmodulinopathy
foldopathy
inherited disease
hereditary condition
hereditary disease
mucopolysaccharidosis
congenital disease
genetic defect
inherited disorder
genetic disease
genetic abnormality
mutagen
Cowden syndrome
heteroallele
amoebiasis
glycomutant
erythroenzymopathy
Gilbert's syndrome
candidate
Edwards syndrome
macromutation
Hurler's disease
dysostosis multiplex
chaperonopathy
lipochondrodystrophy
tetramutant
gargoylism
Hurler's syndrome
aminoacidopathy
endemia
organic defect
pathosis
hereditary elliptocytosis
ultramutation
infection
azymia
autosomal recessive disease
autosomal recessive defect
creeping crud
channelopathy