cystinuria
121Urolithiasis — The process of forming stones in the kidney, bladder, and/or urethra (urinary tract). Kidney stones are a common cause of blood in the urine and pain in the abdomen, flank, or groin. Kidney stones occur in 1 in 20 people at some time in their… …
122aminoaciduria — Excretion of amino acid s in the urine, especially in excessive amounts. SYN: hyperaminoaciduria. [amino acid + G. ouron, urine] hyperbasic a. an inherited disorder associated with a deficiency of a dibasic amino acid …
123hyperlysinuria — The presence of abnormally high concentrations of lysine in the urine; a form of aminoaciduria that occurs in cystinuria, hepatolenticular degeneration, and the Fanconi syndrome. * * * hy·per·ly·sin·uria (hi″pər li″sin uґre… …
124Cuthbert Dukes — Cuthbert Esquire Dukes, M.D. OBE (1890–1977) was an English physician and pathologist and author for whom the Dukes classification for colorectal cancer is named. Born in Bridgwater, Somerset, Dukes was educated at Caterham School and graduated… …
125Hermansky–Pudlak syndrome — Classification and external resources ICD 10 E70.3 (ILDS E70.360) OMIM 203300 …
126Dopamine beta hydroxylase deficiency — Classification and external resources Dopamine beta hydroxylase is the enzyme responsible for converting dopamine (pictured) to norepinephrine. OMIM …
127Medical genetics of Jewish people — The medical genetics of Jewish people is the study, screening and treatment of genetic disorders that are more common in particular Jewish populations than in the population as a whole.[1] The genetics of Ashkenazi Jews have been particularly… …
128Online Mendelian Inheritance in Man — (OMIM) is a database that catalogues all the known diseases with a genetic component, and when possible links them to the relevant genes in the human genome and provides references for further research and tools for genomic analysis of a… …
