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FA Genetics

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laracrystalo's version from 2015-05-31 16:36

Modes of inheritance

Set 1

Question Answer
von Hippel LindauAD
Ocular albinismXLR
Cystic fibrosisAR
Beta thalassemiaAR
Alpha thalassemiaAR
Leber's hereditary optic neuropathyMitochondrial
Hemophilia AXLR
Osler-Weber-Rendu syndromeAD
Von Willebrand DiseaseAD
G6PD deficiencyXLR
Duchenne muscular dystrophyXLR
Hemophilia BXLR
Myotonic dystrophyAD
HemochromatosisAR
Marfan's syndromeAD
Neurofibromatosis type 1AD
Neurofibromatosis type 2AD
Prader-Williimprinting
Angelmanimprinting
Ragged red fiber myopathyMitochondrial
Hypophosphatemic ricketsXLD
Hereditary sideroblastic anemiaXLR
Hemophilia CAR
Pyruvate kinase deficiencyAR
Charcot-Marie-ToothAD
Essential tremorAD
AdrenoleukodystrophyXL
Tuberous sclerosisAD
Androgenetic alopeciaPolygenic or AD
EpilepsyPolygenic
SchizophreniaPolygenic
AchondroplasiaAD
Romano-Ward syndromeAD
Jervell and Lange-Nielsen syndromeAR
Brugada syndromeAD
Familial hypertrophic cardiomyopathyAD
Alport syndromeXLD
Bartter syndromeAR
Gitelman syndromeAR
Liddle syndromeAD
CystinuriaAR
Familial adenomatous polyposis (FAP)AD
Peutz-Jeghers syndromeAD
Juvenile polyposis syndromeAD
Lynch syndromeAD
Dubin-JohnsonAR
Rotor syndromeAR
Wilson syndromeAR
Menkes diseaseXLR
Albright hereditary osteodystrophyAD; imprinting
Ataxia-telangiectasiaAR
5alpha reductase deficiencyAR
Osteogenesis imperfecta type IAD
Ehlers Danlos, vascular typeAD (type III)
Ehlers Danlos, classical typeAD (type V)
Ehlers Danlos, hypermobility typeAD or AR
Fatal familial insomniaAD
Acute intermittent porphyriaAD
Familial hyperlipidemiaAD
Xeroderma pigmentosumAR
MCAD deficiencyAR
SCIDXLR (IL-2R gamma chain defective) > AR (adenosine deaminase)
Bruton's agammaglobulinemiaXLR (aka X-linked ")
Hyper-IgM syndromeXLR
Wiskott-AldrichXLR
Chronic granulomatous diseaseXLR
Lesch-NyhanXLR
HunterXLR
Ornithine transcarbamylase deficiencyXLR
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Chromosome

 

Question Answer
von Hippel Lindau3
Renal cell carcinoma3
ADPKD4 (PKD2) or 16 (PKD1)
Cri-du-chat5
Prader-Willi15
Angelman15
Retinoblastoma13
Colon cancer5 (APC)
Williams syndrome7
Friedreich ataxia9
Wilson13
NF117
NF222
Edwards18 (trisomy)
Downs21 (trisomy)
DiGeorge22
Wiskott-AldrichX
Lesch-NyhanX
Duchenne muscular dystrophyX
Becker muscular dystrophyX
Hunter syndromeX
Hemophilia AX
Hemophilia BX
Ornithine transcarbamylaseX
Pyruvate dehydrogenase complex deficiencyX
Wilms tumor11
MEN210
CFTR (cystic fibrosis)7
Achondroplasia4
Patau13 (trisomy)
Apert10
Marfan15
Ehlers-Danlos7
Osteogenesis imperfecta7
MODY120
Huntington4
Alkaptonuria3 (homogentisic acid oxidase)
Li Fraumeni17 (p53)
Sjogren-Larsson17
Dysplastic nevus syndrome9p21
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