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Genetics
Inheritance Diseases
| Question | Answer |
|---|---|
| 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
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