Entertainment Quiz / First Aid, Inheritance patterns

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Can you name the First Aid, Inherited diseases

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

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