genetic disorder
enzymopathy
morphopathy
inborn error of metabolism
adermatoglyphia
genopathy
proteopathy
pathogenetics
mutagenesis
gene mutation
hypomorph
cytopathology
endotype
point mutation
amorph
metabola
pseudolesion
organic defect
quasifixation
candidate
foldopathy
pathophenotype
aetiopathogenesis
Weill-Marchesani syndrome
mutator
hypermutation
Edwards syndrome
Lowe syndrome
Fanconi anemia
abnormalcy
hereditary hemorrhagic telangiectasia
abnormality
Pallister-Hall syndrome
ablepharon macrostomia syndrome
ultramutation
laminopathy
Miller syndrome
diseasome
excrescent
ketoacidemia
Cowden syndrome
POEMS syndrome
structural disorder
endemia
recessive
lethal gene
noncancer
CHARGE syndrome
biallelism
mutagen
chaperonopathy
nonpathology
zonulopathy
pathosis
sequela
frameshift mutation
proto-oncogene
Pfeiffer syndrome
Nijmegen breakage syndrome
macromutation
molecular medicine
muton
endophenotype