Entertainment Quiz / First Aid, Inheritance patterns

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Can you name the First Aid, Inherited diseases

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AR, deficient glucose-6-phosphatase
AR, defect on chromosome 15, deficient hexosaminidase
XLR, oxidative damage, triggered by foods and sulfa drugs
AD, defect on chromosome 4, caudate atrophy, choreiform movements
AD, associated with RET gene
AR, ∆F508 mutation on chromosome 7, Na-Cl transport affected
XLR, urea cycle disorder, presents in 2nd day of life
AR, defect on chromosome 11, mutated subunit
XLR, HGPRT deficiency
AR, defect on chromosome 14, deficient galactocerebrosidase
AR, defect on chromosome 16, protein has 4 loci
AD, telangiactasias, epistaxis, AVMs
AD, trinucleotide repeat of CTG
XLR, deficient alpha-galactosidase
AR, inability to phosphorylate fructose
AD, defect on chromosome 15, subluxation of lenses
AD, defect in akyrin or spectrin
XLR, non-functional small platelets
AD, defect on chromosome 22, bilateral acoustic schwannomas
AR, defect on chromosome 6, mutation of HFE gene
XLR, deficiency in factor VIII or IX
AD, defect in FGF receptor 3
AR, trinucleotide repeat of GAA
AD, mutant APC gene on chromosome 15
XLR, deficiency in EL-α subunit of larger complex
AD, achilles xanthomas, early MI, defect in LDL receptor
AD, defect on chromosome 15, lisch nodules
AR, class of metabolic diseases
XLR, immature B cells, mutated BTK gene
XLR, trinucleotide repeat of CGG
AR, inability to metabolize a monosaccaride of lactose
XLR, lower function dystrophin
AR, defect in sphyngomyelinase
XLR, frameshift deletion of dystrophin
AD, defect on chromosome 3, deletion of VHL, constitutive expresion of HIF
AR, deficient MTP gene, ↓B48,100 ↓chylomicron, inability to export lipids from enterocytes
AR, deficiency in aldolase B
AR, defect on chromosome 1, deficient glucocerebrosidase
XLR, deficient iduronate-2-sulfatase
XLR, missing retinal melanin
AD, mutation on chromosome 16, berry aneurysms
AR, defect on chromosome 6, infantile form of adult disease
AD, incomplete penetrance, facial lesions, increased astrocytomas
AR, defect tested at birth by Guthrie test

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Created May 16, 2014ReportFavoriteNominate
Tags:aid, disease

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