Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
32 Cards in this Set
- Front
- Back
|
Achondroplasia
|
AD
(Defect in FGF Receptor 3) |
|
|
ADPKD
|
AD
(always bilateral, defect in PKD1 on Chromosome 16) |
|
|
FAP
|
AD
(Defect in APC on Chromosome 5) |
|
|
Familial Hypercholesterolemia
|
AD
(Due to defective or absent LDL receptor) |
|
|
Osler-Weber-Rendu
|
AD
|
|
|
Hereditary Spherocytosis
|
AD
(defect in spectrin or ankyrin) |
|
|
Huntington's Disease
|
AD
(CAG repeats on Chromosome 4) |
|
|
MEN
|
AD
(2A and 2B are associated with ret gene) |
|
|
Von Recklinghausen's Disease
|
This is NF1.
AD. Chromosome 17. |
|
|
NF2
|
AD.
(defect in NF2 gene on Chromosome 17) |
|
|
Tuberous Sclerosis
|
AD
|
|
|
Von Hippel-Lindau
|
AD
(defect in VHL gene on Chromosome 3p) |
|
|
Cystic Fibrosis
|
AR
(Defect in CFTR) |
|
|
Albinism
|
AR
|
|
|
Polycystic Kidney Disease seen in babies
|
AR
|
|
|
Glycogen Storage Diseases
|
AR
|
|
|
Hemochromatosis
|
AR
|
|
|
The majority of mucopolysaccharidoses
|
AR
(Hunter's is not) |
|
|
PKU
|
AR
|
|
|
Sickle Cell Anemia
|
AR
|
|
|
Sphingolipidoses
|
AR
(Except for Fabry's) |
|
|
Thalassemias
|
AR
|
|
|
Brunton's agammaglobulinemia
|
XLR
|
|
|
Wiskott Aldrich Syndrome
|
XLR
|
|
|
Fabry's
|
XLR
|
|
|
G-6-PD
|
XLR
|
|
|
Ocular Albinism
|
XLR
|
|
|
Lesch-Nyhan Syndrome
|
XLR
|
|
|
Duchenne and Becker
|
XLR
|
|
|
Hunter's
|
XLR
|
|
|
Hunter's
|
XLR
|
|
|
Hemophilia A and B
|
XLR
|
