Genetics Flashcards by Tabitha Hill

Q

Autosomal Dominant

A

‘Structural’

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Q

Achondroplasia

A

Autosomal Dominant

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Q

Acute intermittent prophyria

A

Autosomal Dominant

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Q

Adult PCKD

A

Autosomal Dominant

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Q

Antithrombin III deficiency

A

Autosomal Dominant

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Q

Ehlers-Danlos

A

Autosomal Dominant

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Q

FAP

A

Autosomal Dominant

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Q

Hereditary haemorrhagic telangiectasia

A

Autosomal Dominant

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Q

Hereditary spherocytosis

A

Autosomal Dominant

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Q

HNPCC

A

Autosomal Dominant

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Q

Huntington’s

A

Autosomal Dominant

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Q

Hyperlipidaemia II

A

Autosomal Dominant

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Q

Hypokalaemic periodic paralysis

A

Autosomal Dominant

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Q

Malignant hyperthermia

A

Autosomal Dominant

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Q

Marfan’s

A

Autosomal Dominant

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Q

Myotonic dystrophy

A

Autosomal Dominant

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Q

Neurofibromatosis

A

Autosomal Dominant

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Q

Noonan Syndrome

A

Autosomal Dominant

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Q

Ostoegenesis Imperfecta

A

Autosomal Dominant

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Q

Peutz-Jeghers Syndrome

A

Autosomal Dominant

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Q

Retinoblastoma

A

Autosomal Dominant

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Q

Romano-Ward Syndrome

A

Autosomal Dominant

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Q

Tuberous sclerosis

A

Autosomal Dominant

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Q

Von Hippel-Lindau

A

Autosomal Dominant

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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