cystinuria
101Brunner syndrome — Classification and external resources OMIM 300615 DiseasesDB 32391 Brunner syndrome is a rare genetic disorder caused by a …
102Organic acidemia — Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched chain amino acids, causing a buildup of acids which are usually not… …
103SLC1A5 — Solute carrier family 1 (neutral amino acid transporter), member 5, also known as SLC1A5, is a human gene.cite web | title = Entrez Gene: SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5| url =… …
104PPM1B — Protein phosphatase 1B (formerly 2C), magnesium dependent, beta isoform, also known as PPM1B, is a human gene.cite web | title = Entrez Gene: PPM1B protein phosphatase 1B (formerly 2C), magnesium dependent, beta isoform| url = http://www.ncbi.nlm …
105Ocular albinism — Classification and external resources ICD 10 E70.3 ICD 9 270.2 …
106Neufundländer — FCI Standard Nr. 50 Gruppe 2: Pinscher und Schnauzer …
107Mastín inglés — Nombres alternativos Mastín Mastín inglés Old English Mastiff País de origen …
108transport diseases — Single gene defect diseases in which there is an inability to transport particular small molecules across membranes. Examples are aminoacidurias such as cystinuria, iminoglycinuria, Hartnup disease, Fanconi syndrome …
109amino acid — Biochem. any of a class of organic compounds that contains at least one amino group, NH2, and one carboxyl group, COOH: the alpha amino acids, RCH(NH2)COOH, are the building blocks from which proteins are constructed. Cf. essential amino acid.… …
110genetics — /jeuh net iks/, n. (used with a sing. v.) 1. Biol. the science of heredity, dealing with resemblances and differences of related organisms resulting from the interaction of their genes and the environment. 2. the genetic properties and phenomena… …
