Also known as: Familial retinoblastoma, Bilateral retinoblastoma, Trilateral retinoblastoma, and unilateral retinoblastoma – OMIM#180200 https://omim.org/entry/180200 1. The disease Hereditary retinoblastoma (RB) is a malignant tumor of the developing retina...
BTD gene (OMIM#253260) 1. The disease Biotinidase deficiency is an inherited metabolic disorder of biotin (vitamin B7), which impairs the body’s ability to recycle biotin. Biotinidase deficiency is caused...
ASL gene. Also known as: Argininosuccinase Deficiency; Argininosuccinate Lyase Deficiency; ASL deficiency; Argininosuccinic acid lyase deficiency; ASA. (OMIM#207900) 1. The disease Rare genetic disorder of urea cycle metabolism typically...
Also known as: arginase deficiency; arginase deficiency disease; ARG1 deficiency; ARG (OMIM#207800) 1. The disease Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to...
Also known as: Mitochondrial complex I deficiency, nuclear type 20; MC1DN20; Mitochondrial complex I deficiency due to ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency. (OMIM#611126 https://omim.org/entry/611126) 1. The disease ACAD9...
Also known as: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency,3-HMG-CoA lyase deficiency, HMGCLD (OMIM#246450 https://omim.org/entry/246450) 1. The disease A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic...
Also known as: 3-HMG-CoA synthase-2 deficiency, mitochondrial HMG-CoA synthase, HMGCS2D (OMIM#2605911) 1. The disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessive inborn error of hepatic...