Fragile X Syndrome

[isf-bot]

From fcold...@eagle-i.org on May 20, 2013 10:43:27

\ Use the form below to request a new term ** ** Scroll down to see a term request example **\ Please indicate the label for the proposed term: Fragile X Syndrome Please provide a textual definition (with source): "A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)" http://www.nlm.nih.gov/cgi/mesh/2013/MB_cgi?mode=&index=5363&field=all&HM=&II=&PA=&form=&input= Please add an example of usage for proposed term: As a disease modeled in a line of Drosophila Please provide any additional optional information below. (e.g. desired asserted SuperClass in ERO hierarchy or Reference Branch) [ ] Instrument [ ] Biological process [X] Disease [ ] Human studies [ ] Instrument [ ] Organism [ ] Reagent [ ] Software [ ] Technique [ ] Organization Additional info: * Term request example **\ Please indicate the label for the proposed term: four-terminal resistance sensor Please provide a textual definition (with source): "Four-terminal resistance sensors are electrical impedance measuring instruments that use separate pairs of current-carrying and voltage-sensing electrodes to make accurate measurements that can be used to compute a material's electrical resistance." http://en.wikipedia.org/wiki/Four-terminal_sensing Please add an example of usage for proposed term: Measuring the inherent (per square) resistance of doped silicon. Please provide any additional optional information below. (e.g. desired asserted SuperClass in ERO hierarchy or Reference Branch) [X] Instrument [ ] Biological process [ ] Disease [ ] Human studies [ ] Instrument [ ] Organism [ ] Reagent [ ] Software [ ] Technique [ ] Organization Additional info: AKA - 4T sensors, 4-wire sensor, or 4-point probe

Original issue: http://code.google.com/p/eagle-i/issues/detail?id=216

[isf-bot]

From sc...@eagle-i.org on June 06, 2013 11:57:19

Status: Accepted
Owner: sc...@eagle-i.org
Labels: disease

[isf-bot]

From sc...@eagle-i.org on June 18, 2013 12:40:13

Added as Fragile X Syndrome ( http://purl.bioontology.org/ontology/MSH/D025064 ) - http://purl.bioontology.org/ontology/MSH/D005600

Status: Fixed