Entertainment Quiz / First Aid, Inheritance patterns

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Can you name the First Aid, Inherited diseases

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

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