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