enzymopathy
inborn error of metabolism
genetic disorder
ketoacidemia
metachromatic leukodystrophy
pathogenetics
galactosemia
morphopathy
histidinemia
proteopathy
calmodulinopathy
foldopathy
genetic disease
genetic defect
genetic abnormality
hereditary condition
inherited disorder
inherited disease
congenital disease
mucopolysaccharidosis
hereditary disease
mutagen
Cowden syndrome
amoebiasis
glycomutant
erythroenzymopathy
heteroallele
candidate
Gilbert's syndrome
macromutation
Edwards syndrome
tetramutant
chaperonopathy
lipochondrodystrophy
gargoylism
Hurler's disease
Hurler's syndrome
dysostosis multiplex
endemia
aminoacidopathy
organic defect
pathosis
hereditary elliptocytosis
ultramutation
infection
ciliopathy
autosomal recessive disease
creeping crud
fever
channelopathy
azymia
autosomal recessive defect
mucolipin
monogenic disease
sapronosis
monogenic disorder
mutagenesis
amoebosis
genopathy
climax
rot
hypermutation
nosogenesis
laminopathy
pathophenotype
Hurler syndrome
sarcoglycanopathy
diseasome
antienzyme
aetiology
oligodendropathy
Miller syndrome
activase
teratogen
metabola
interferase
erythropathy
dysmorphology