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