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The flashcards below were created by user
aa933
on FreezingBlue Flashcards.
-
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
-
Lysosomal storage
Mucopolysaccharides
- Autorecessive
- Hurlers
- X-R
- Hunter syn
-
abetalipoteinemia
Autosomal recessive
- FTT
- Steatorrhea
- Acanthocytosis--spikey RBCs
- ataxia
- night blindness
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