Börjeson–Forssman–Lehmann syndrome
Sotos syndrome
Costello syndrome
Carpenter syndrome
Prader-Willi syndrome
nail-patella syndrome
genopathy
Miller syndrome
Feingold syndrome
Baller-Gerold syndrome
Lowe syndrome
CHARGE syndrome
Usher syndrome
Wolf-Hirschhorn syndrome
mongolianism
trisomy 21
chondrodystrophy
Down's syndrome
Cornelia de Lange syndrome
achondroplasty
achondroplasia
Down syndrome
osteosclerosis congenita
mongolism
faciodigitogenital dysplasia
Edwards syndrome
Waardenburg syndrome
pycnodysostosis
Pfeiffer syndrome
Hurler's syndrome
Hurler's disease
gargoylism
dysostosis multiplex
Weaver syndrome
lipochondrodystrophy
nanism
xanthinuria
mutator
micropolygyria
Weill-Marchesani syndrome
osteopetrosis
Marinesco-Sjögren syndrome
GAPO syndrome
excrescent
Aicardi-Goutières syndrome
ablepharon macrostomia syndrome
cartilage-hair hypoplasia
Noonan syndrome
Gaucher's disease
incontinentia pigmenti
hypomorph
adermatoglyphia
Aarskog-Scott syndrome
dysmorphology
acheiropody
folliculodystrophy
Cockayne syndrome
abnormalcy
Pallister-Hall syndrome
abnormality
IBIDS syndrome
Allan-Herndon-Dudley syndrome
pervasive developmental disorder
Uner Tan syndrome
nephronophthisis
auxopathy
pathogenetics
inborn error of metabolism
Bart syndrome
microcephaly
DiGeorge syndrome
Langer-Giedion syndrome
Cowden syndrome
amorph
Norrie
macromutation
pachydermoperiostosis
anodontia
dwarfism
microhydranencephaly
Berk-Tabatznik syndrome
Silver-Russell syndrome
McKusick-Kaufman syndrome
mutagenesis