The following is an alphabetical list of various genetic diseases:
achondroplasia
adenomatous
polyposis coli
albinism
alpha-1-antitrypsin deficiency
Alzheimer disease
Angelman syndrome
aniridia
ataxia telangiectasia
Beckwith-Wiedemann syndrome
bilateral cleft
lip/palate
breast tumors
b-thalassemia
campomelic dysplasia
cleidocranial dysplasia
common essential hypertension
congenital adrenal hyperplasia
conjoined twins
craniosynostosis syndromes
cystic fibrosis
Dejerine-Sottas syndrome
DiGeorge anomaly
Down syndrome (Trisomy 21)
Duchenne Muscular dystrophy
Edwards syndrome (Trisomy 18)
Ellis van Creveld
syndrome
epidermolysis bullosa
familial hypercholesterolemia
familial hypertrophic cardiomyopathy
fetal alcohol syndrome
Fragile X syndrome
Gorlin syndrome
Grebe chondrodysplasia
Greig cephalopolysyndactyly
hemochromatosis
hemophilia A
Hirschsprung disease
holoprosencephaly
Holt-Oram syndrome
Hunter syndrome
Huntington disease
Hurler syndrome
hypophosphatemic rickets
incontinentia pigmenti type 1
junctional epidermolysis bullosa
Klinefelter syndrome
laterality defects
Marfan syndrome
mitochondrial encephalomyopathy and stroke like episodes (MELAS)
myoclonic epilepsy with ragged-red fiber disease (MERRF)
myotonic dystrophy
neural tube defects
neurofibromatosis type 1 (von
Recklinghausen disease)
occipital encephalocele
ocular albinism
oligohydramnios sequence
osteogenesis imperfecta
Patau syndrome (Trisomy 13)
Peutz-Jeghers syndrome
phenylketonuria
plexiform
neurofibroma
Potter phenotype
(oligohydramnios sequence)
postaxial polydactyly
Prader-Willi syndrome
prostate cancer
recombinant 8 syndrome
retinoblastoma
sex reversal (XY female)
sickle cell disease
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
spectral karyotype
supravalvular aortic stenosis
synpolydactyly
Tay-Sachs disease
thanatophoric dysplasia
triploidy
Tuberous Sclerosis
Turner syndrome
type 1 diabetes
ulnar-mammary syndrome
Ventricular septal defects
WAGR syndrome
Williams syndrome
Wilson disease
Wolf-Hirschhorn syndrome |