Pallister-Hall syndrome
Aicardi-Goutières syndrome
Joubert syndrome
Costello syndrome
Sotos syndrome
ablepharon macrostomia syndrome
Wolf-Hirschhorn syndrome
POEMS syndrome
CHARGE syndrome
nail-patella syndrome
Edwards syndrome
Nijmegen breakage syndrome
organic defect
monosomy
adermatoglyphia
Allan-Herndon-Dudley syndrome
Pfeiffer syndrome
Lowe syndrome
pathogenetics
xanthinuria
Down syndrome
inherited disorder
genetic disease
inherited disease
hereditary disease
hereditary condition
Down's syndrome
Weill-Marchesani syndrome
Weaver syndrome
genetic abnormality
congenital disease
mongolism
neurogenetics
FG syndrome
trisomy 21
Baller-Gerold syndrome
genetic defect
Fanconi anemia
Cornelia de Lange syndrome
genetic disorder
mongolianism
pachydermoperiostosis
Bloom's syndrome
macroplasia
Marinesco-Sjögren syndrome
embryopathy
faciodigitogenital dysplasia
McKusick-Kaufman syndrome
piebaldism
cri du chat syndrome
Keutel syndrome
primary immunodeficiency
diseasome
morphopathy
incontinentia pigmenti
embryofetopathy
Cowden syndrome
hereditary hemorrhagic telangiectasia
abnormalcy
genopathy
abnormality
haematidrosis
Kallman syndrome
Alagille syndrome
XX male syndrome
pycnodysostosis
Rett syndrome
Carpenter syndrome
proband
cephalopolysyndactyly
cartilage-hair hypoplasia
Waardenburg syndrome
malformation
Treacher Collins syndrome
Feingold syndrome
osteopetrosis
childhood disintegrative disorder
structural disorder
oligophrenia
Miller syndrome
fragile X syndrome
supranuclear palsy
Turner syndrome
genetic counseling
progeria
tuberous sclerosis
Urbach-Wiethe disease
aetiopathogenesis
Cockayne syndrome
Beckwith-Wiedemann syndrome