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