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Genetic Disease Classification

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ptheodore's version from 2015-04-13 00:16

Autosomal Recessive Disorders

Question Answer
Cystic FibrosisAutosomal Recessive Disorders
PhenylketonuriaAutosomal Recessive Disorders
AlbinismAutosomal Recessive Disorders
Alpha 1 antitrypsin deficiencyAutosomal Recessive Disorders
AlkaptonuriaAutosomal Recessive Disorders
Beta ThalassemiaAutosomal Recessive Disorders
Chronic granulomatous disease (CGD)Autosomal Recessive Disorders
Congenital Adrenal Hyperplasia (CAH ) Autosomal Recessive Disorders
Deafness(SNHL)Autosomal Recessive Disorders
Dubin Johnson Autosomal Recessive Disorders
Enzyme deficiencies(glycogen storage and lysosomal storage)Autosomal Recessive Disorders
Ehlers-Danlos (Some Variants)Autosomal Recessive Disorders
Friedrich's AtaxiaAutosomal Recessive Disorders
Fanconi AnemiaAutosomal Recessive Disorders
GalactosemiaAutosomal Recessive Disorders
GauchersAutosomal Recessive Disorders
HomocystinuriaAutosomal Recessive Disorders
HemochromatosisAutosomal Recessive Disorders
Sickle Cell DiseaseAutosomal Recessive Disorders
Wilson's DiseaseAutosomal Recessive Disorders
ThalassemiasAutosomal Recessive Disorders
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X-Linked Recessive Disorders

Question Answer
Brutton's Agammaglobulinemia X-Linked Recessive
Fabry DiseaseX-Linked Recessive
Hunter's DiseaseX-Linked Recessive
Hemophilia A & BX-Linked Recessive
Glucose-6-Phosphate Dehydrogenase ( G6PD) Deficiency X-Linked Recessive
Ocular AlbinismX-Linked Recessive
Lesch-Nyhan SyndromeX-Linked Recessive
Wiskott-Aldrich SyndromeX-Linked Recessive
Color BlindnessX-Linked Recessive
Complete Androgen InsensitivityX-Linked Recessive
Androgen Insensitivity Syndrome (AIS)X-Linked Recessive
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Autosomal Dominant Disorders

Question Answer
Charcot-Marie-Tooth (CMT) DiseaseAutosomal Dominant
Marfan SyndromeAutosomal Dominant
Multiple Endocrine Neoplasia Autosomal Dominant
Myotonic Dystrophy Autosomal Dominant
AchondroplasiaAutosomal Dominant
Acute Intermittent PropheticAutosomal Dominant
Retinoblastoma Autosomal Dominant
Familial HypercholesterolemiaAutosomal Dominant
Familial Polyposis Coli (FPC)Autosomal Dominant
Familial Adenomatous Polyposis (FAP)Autosomal Dominant
Autosomal Dominant Polycystic Kidney Disease (ADPKD)Autosomal Dominant
Huntington DiseaseAutosomal Dominant
Hereditary SpherocytosisAutosomal Dominant
Neurofibromatosis Autosomal Dominant
Osteogenesis ImperfectaAutosomal Dominant
Osler-Weber-Rendu DiseaseAutosomal Dominant
Ehlers-Danlos (Some Variants) Autosomal Dominant
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