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