modeofinheritance.txt

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Ehlers-Danlos syndrome
- BOTH
- autorecessive and dominant
Osteogenesis imperfecta

AutoDOMINANT
Alports syndrome
X-linked recessive
- type 4 col
- kidney, ears, eyes
Autosomal dominant
- Achondroplasia
- ADPKD
- Familial adenomatous
- Familial hypercholesterolemia (type IIA)
- Hereditary hemorrhagic telangctasia (Osler-weber-rendu syn)
- Hereditary spherocytosis
- Huntingon disease
- Marfan syndrome
- MEN
- Neuofirbomatosis 1 and 2
- Tuberous sclerosis
- von Hippel- lindau disease
Autosomal recessive
- albinism
- ARPKD
- cystic fibrosis
- glycogen storage disease
- Hemochromatosis
- Mucopolysacxharidoes (NOT HUNTER)
- PKU
- Sickle cell
- Sphinogolipidosis (NOT FABRY)
- thalassemia
X-linked recessive
- Burtons agammaglobinemia
- Wiskott-aldrich
- Fabry
- G6PD def
- Ocular
- Lesch-nyslan
- Duchennes + Becker
- Hunter syn
- Hemophila A and B
- ornithin transcarbamoylas (OTC) def -
- MOSTLY BOYS
Trinucleotide repeats
- Huntingon- CAG
- Myotonic distrophy- CTG
- Fragile X- CGG
- Friedrichs ataxia - GAA
Metabolism Autorecessive
- Alkaptonuria
- Albinism
- Homocystinuria
- Cystinuria
- Hartnup disease
Glycogen storage disease
Autorecessive
- VonGeirkes - 1
- Pompes -2
- Cori - 3
- McArdle -5
Lysosomal storage dx
Sphinolipdioses
Autorecessive
- Gaucher
- Niemann-Pick
- Tay-Sachs
- Krabbe
- Metachromatic leukodystrophy
- X=-recessive
- Fabry
Lysosomal storage
Mucopolysaccharides
- Autorecessive
- Hurlers
- X-R
- Hunter syn
abetalipoteinemia
Autosomal recessive
- FTT
- Steatorrhea
- Acanthocytosis--spikey RBCs
- ataxia
- night blindness

Author

aa933

89639

Card Set

modeofinheritance.txt

Description

mode of inheritance

Updated

2011-06-07T17:30:24Z