McKusick-Kaufman syndrome
adermatoglyphia
RASopathy
Neill-Dingwall syndrome
Weber-Cockayne syndrome
hypoganglionosis
pathogenetics
Chédiak-Higashi syndrome
Pallister-Hall syndrome
hereditary hemorrhagic telangiectasia
Townes-Brocks syndrome
Feingold syndrome
Pfeiffer syndrome
Cowden syndrome
Nijmegen breakage syndrome
piebaldism
Carpenter syndrome
Timothy syndrome
hereditary disease
ablepharon macrostomia syndrome
inherited disease
inherited disorder
congenital disease
genetic disorder
genetic defect
hereditary condition
genetic abnormality
genetic disease
Wolf-Hirschhorn syndrome
pathophenotype
Edwards syndrome
POEMS syndrome
XX male syndrome
hypogranulocytosis
foldopathy
chondrodysplasia
abnormalcy
genopathy
abnormality
Cornelia de Lange syndrome
variation
cystoprotein
propositus
clinotype
Alagille syndrome
genetic engineering
neomorphic
Dubowitz syndrome
Birt-Hogg-Dubé syndrome
xanthinuria
complotype
nephronophthisis
pachydermoperiostosis
autosomal dominant disease
Lowe syndrome
autosomal dominant disorder
histidinemia
knock knee
Griscelli syndrome
Turner's syndrome
Treacher Collins syndrome
gargoylism
genomical
Hurler's disease
Hurler's syndrome
microcephalin
dysostosis multiplex
lipochondrodystrophy
autosomal recessive defect
Hashimoto-Pritzker disease
Kallman syndrome
dysferlinopathy
Urbach-Wiethe disease
achondroplasia
Aarskog-Scott syndrome
autosomal recessive disease
Bloom's syndrome
cutis hyperelastica
dysmorphology
endophenotype
epitype
Weill-Marchesani syndrome
cherubism
Weaver syndrome
candidate
embryopathic
Sotos syndrome
myotilinopathy
Job's syndrome
whistling face syndrome
silencer
dyskerin
beta
Joubert syndrome
Buckley syndrome
cartilage-hair hypoplasia
kisspeptin
diseasome
pycnodysostosis