Chédiak-Higashi syndrome
Griscelli syndrome
Hermansky-Pudlak syndrome
adermatoglyphia
histidinemia
autosomal recessive defect
autosomal recessive disease
Carpenter syndrome
aspartylglucosaminuria
McKusick-Kaufman syndrome
Nijmegen breakage syndrome
ablepharon macrostomia syndrome
Feingold syndrome
Meckel-Gruber syndrome
pachydermoperiostosis
Gilbert's syndrome
Niemann-Pick disease
supranuclear palsy
methylmalonic acidemia
Sanfilippo syndrome
genetic disorder
lymphangiomyomatosis
Wiskott-Aldrich syndrome
Wolman disease
recessive
Hurler's disease
Bartter syndrome
genopathy
dysostosis multiplex
Hurler's syndrome
lipochondrodystrophy
gargoylism
piebaldism
POEMS syndrome
Treacher Collins syndrome
yellow nail syndrome
Weill-Marchesani syndrome
hereditary hemorrhagic telangiectasia
Baller-Gerold syndrome
Edwards syndrome
Urbach-Wiethe disease
autosomal dominant disease
Miller syndrome
hypoganglionosis
pseudopomyzid
autosomal dominant disorder
Keutel syndrome
acquired disorder
hypomorph
heterogenotype
Cowden syndrome
oligoteratoasthenospermia
nail fungus
lagochilascariasis
Joubert syndrome
anodontia
enzymopathy
Pfeiffer syndrome
Camurati-Engelmann disease
Bart syndrome
XX male syndrome
class Sporozoa
aminoacidopathy
besnoitiosis
mucopolysaccharidosis
Salla disease
Sporozoa
incontinentia pigmenti
homokaryotype
autophagolysosome
aneupolyploid
genetic defect
abetalipoproteinemia
genetic abnormality
Prader-Willi syndrome
lysine intolerance
congenital disease
inherited disease
Langer-Giedion syndrome
hereditary condition
inherited disorder
genetic disease
hereditary disease
Thomsen disease