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Genetics

Inheritance Diseases

QuestionAnswer
Oculocutaneous albinism AR
ARPKD AR
Cystic fibrosis AR
Friedreich ataxia AR
glycogen storage diseases AR
hemochromatosis AR
Kartagener syndrome AR
mucopolysaccharidoses (except Hunter syndrome) AR
phenylketonuria AR
sickle cell anemia AR
Sphingolipidoses (except Fabry disease) AR
thalassemias AR
Wilson disease AR
Achondroplasia AD
ADPKD AD
familial adenomatous polyposis AD
familial adenomatous polyposis AD
hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) AD
hereditary spherocytosis AD
Huntington disease AD
Li-Fraumeni syndrome AD
Marfan syndrome AD
multiple endocrine neoplasias AD
myotonic muscular dystrophy AD
neurofibromatosis type 1 (von Recklinghausen disease) AD
neurofibromatosis type 2 AD
tuberous sclerosis AD
Von Hippel-Lindau disease AD
Ornithine transcarbamylase deficiency X-linked recessive
Fabry disease X-linked recessive
Wiskott-Aldrich syndrome X-linked recessive
Ocular albinism X-linked recessive
G6PD deficiency X-linked recessive
Hunter syndrome X-linked recessive
Bruton agammaglobulinemia X-linked recessive
Hemophilia A and B X-linked recessive
Lesch-Nyhan syndrome X-linked recessive
Duchenne (and Becker) muscular dystrophy. X-linked recessive
Created by: peterapichardo