List Of Genetic Disorders - Human Genetic Disease

The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.

Most common disorders

Human Genetic Diseases to Know - Tay Sachs, Downs, Huntington's, Sickle-Cell, Klinefelter's, Color-blindness.

• P â€" Point mutation, or any insertion/deletion entirely inside one gene
• D â€" Deletion of a gene or genes
• C â€" Whole chromosome extra, missing, or both (see Chromosome abnormality)
• T â€" Trinucleotide repeat disorders: gene is extended in length

Full genetic disorders list

Neo Sci Human Genetic Disorders Laminated Poster, 23" Width x 35 .... Source : www.amazon.com

References

FlyBase portals to human disease research using Drosophila models .... Source : dmm.biologists.org

Further reading

Reticulate pigmentary disorders Sardana K, Goel K, Chugh S .... Source : www.ijdvl.com

• "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). genome.gov. Retrieved 15 November 2017. 
• "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) â€" an NCATS Program". rarediseases.info.nih.gov. NIH.gov. Retrieved 15 November 2017. 

Current status of understanding of the genetic etiology of .... Source : www.jpgmonline.com