Genetics Flashcards
Autosomal Dominant
‘Structural’
Achondroplasia
Autosomal Dominant
Acute intermittent prophyria
Autosomal Dominant
Adult PCKD
Autosomal Dominant
Antithrombin III deficiency
Autosomal Dominant
Ehlers-Danlos
Autosomal Dominant
FAP
Autosomal Dominant
Hereditary haemorrhagic telangiectasia
Autosomal Dominant
Hereditary spherocytosis
Autosomal Dominant
HNPCC
Autosomal Dominant
Huntington’s
Autosomal Dominant
Hyperlipidaemia II
Autosomal Dominant
Hypokalaemic periodic paralysis
Autosomal Dominant
Malignant hyperthermia
Autosomal Dominant
Marfan’s
Autosomal Dominant
Myotonic dystrophy
Autosomal Dominant
Neurofibromatosis
Autosomal Dominant
Noonan Syndrome
Autosomal Dominant
Ostoegenesis Imperfecta
Autosomal Dominant
Peutz-Jeghers Syndrome
Autosomal Dominant
Retinoblastoma
Autosomal Dominant
Romano-Ward Syndrome
Autosomal Dominant
Tuberous sclerosis
Autosomal Dominant
Von Hippel-Lindau
Autosomal Dominant
Von Willebrand’s disease
Autosomal Dominant
Autosomal Recessive
“Metabolic”
Albinism
Autosomal Recessive
Ataxic telangiectasia
Autosomal Recessive
CAH
Autosomal Recessive
CF
Autosomal Recessive
Cystinuria
Autosomal Recessive
Familial Mediterranean fever
Autosomal Recessive
Fanconi’s anaemia
Autosomal Recessive
Friedreich’s ataxia
Autosomal Recessive
Gilbert’s syndrome
Autosomal Recessive
Glycogen storage disease
Autosomal Recessive
Haemochromatosis
Autosomal Recessive
Homocystinuria
Autosomal Recessive
Lipid storage disease
Autosomal Recessive
Hurler’s
Autosomal Recessive
PKU
Autosomal Recessive
Sickle cell
Autosomal Recessive
Thalassaemia
Autosomal Recessive
Wilson’s
Autosomal Recessive
Alport’s Syndrome
X linked dominant
Rett Syndrome
X linked dominant
Vitamin D resistant rickets
X linked dominant
Androgen insensitivity syndrome
X linked recessive
Becker’s dystrophy
X linked recessive
Colour blindness
X linked recessive
Duchenne’s
X linked recessive
Fabry’s disease
X linked recessive
G6PD deficiency
X linked recessive
Haemiphilia A and B
X linked recessive
Hunter’s disease
X linked recessive
Lesch-Nyhan
X linked recessive
Nephrogenic DI
X linked recessive
Ocular Albinism
X linked recessive
Retinitis Pigmentosa
X linked recessive
Wiskott-Aldrich
X linked recessive
