adermatoglyphia
hereditary hemorrhagic telangiectasia
autosomal dominant disease
autosomal dominant disorder
Timothy syndrome
ablepharon macrostomia syndrome
autosomal recessive defect
autosomal recessive disease
genopathy
pathogenetics
genetic disorder
Townes-Brocks syndrome
ichthyosis bullosa of Siemens
McKusick-Kaufman syndrome
inherited disorder
genetic defect
genetic disease
inherited disease
congenital disease
hereditary disease
Chédiak-Higashi syndrome
genetic abnormality
hereditary condition
Alagille syndrome
xanthinuria
Treacher Collins syndrome
Carpenter syndrome
microspecies
Pallister-Hall syndrome
Nijmegen breakage syndrome
pachydermoperiostosis
Camurati-Engelmann disease
dysostosis multiplex
mutable
gargoylism
lipochondrodystrophy
Hurler's syndrome
Hurler's disease
Griscelli syndrome
piebaldism
organic defect
seropathotype
Birt-Hogg-Dubé syndrome
dysfibrinogenemia
Thomsen disease
incontinentia pigmenti
Pfeiffer syndrome
Pascual-Castroviejo syndrome type 1
genecological
genecologic
genetic
Cowden syndrome
cri du chat syndrome
Lowe syndrome
Noonan syndrome
Wolf-Hirschhorn syndrome
multiomics
Brunner syndrome
mutagenesis
Weaver syndrome
monogenic disease
neomorphic
congenital contractural arachnodactyly
quasifixation
endophenotype
monogenic disorder
fragile X syndrome
autogynephilic
Edwards syndrome
pathophenotype
intergenotype
point mutation
mutagenize
variation
mutate
McCune-Albright syndrome
gene mutation
mutatory
proto-oncogene
diseasome
morphopathy
Miller syndrome
Axenfeld syndrome
genetic marker
neurofibromatosis
von Recklinghausen's disease
hypermutation
Joubert syndrome
Aicardi-Goutières syndrome
recombine
genecologically
mutationistic
abnormality
Niemann-Pick disease
abnormalcy
trichothiodystrophy
inherited
mutating
hypomorphism