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===Cartilage–hair hypoplasia===
Mutations within [[RNase MRP]] have been shown to cause [[cartilage–hair hypoplasia]], a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among [[Amish]] and [[Finland|Finnish]].<ref name="pmid11207361">{{cite journal | vauthors = Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A | display-authors = 6 | title = Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia | journal = Cell | volume = 104 | issue = 2 | pages = 195–203 | date = January 2001 | pmid = 11207361 | doi = 10.1016/S0092-8674(01)00205-7 | s2cid = 13977736 | doi-access = free | hdl = 2066/185709 | hdl-access = free }}</ref><ref name="pmid17189938">{{cite journal | vauthors = Martin AN, Li Y | title = RNase MRP RNA and human genetic diseases | journal = Cell Research | volume = 17 | issue = 3 | pages = 219–226 | date = March 2007 | pmid = 17189938 | doi = 10.1038/sj.cr.7310120 | doi-access = free }}</ref><ref name="pmid18804272">{{cite journal | vauthors = Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD | display-authors = 6 | title = Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations | journal = The Journal of Allergy and Clinical Immunology | volume = 122 | issue = 6 | pages = 1178–1184 | date = December 2008 | pmid = 18804272 | doi = 10.1016/j.jaci.2008.07.036 | doi-access = free }}</ref> The best characterised variant is an A-to-G [[Transition (genetics)|transition]] at nucleotide 70 that is in a loop region two bases 5' of a [[Conserved sequence|conserved]] [[pseudoknot]]. However, many other mutations within RNase MRP also cause CHH.
===Alzheimer's disease===
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