Relacionar Columnas Patho: Genetic DiseaseVersión en línea Match the disease name with its description por Rebecca Edmiston 1 Marfan syndrome 2 Tay Sachs disease 3 G6PD deficiency 4 Huntington's Disease 5 Angelman Syndrom 6 Ehlers-Danlos syndrom 7 Familial adenomatous polyposis 8 Cystic Fibrosis 9 Neurofibromatosis 10 Wilson's disease Mutation on chromosome 15, disruption of lysosomal enzyme, cognitive impairment, ganglioside accumulation Loss of specific genes on chromosome 15, maternal chromosome most affected, developmental delays APC gene disrupted, increased risk of colon cancer Mutation of NF1 gene, decreased neurofibromin production, tumors, cafe-au-lait spots Autosomal recessive disease affecting lungs and pancreas. Disorder of copper metabolism Autosomal dominant, fibrillin-1 gene; tall, lanky structure, heart murmur Disruption of collagen gene, joint hypermobility, skin hyperelasticity Autosomal dominant, adult-onset, degeneration of neuron, movement disfunction Metabolic enzyme, disruption of gene results in RBC hemolysis
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