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