Down Syndrome

[isf-bot]

From rpea...@eagle-i.org on April 01, 2013 10:18:11

** 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:Down Syndrome

Please provide a textual definition (with source):The most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration. It is characterized by well-defined and distinctive phenotypic features and is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. http://www.omim.org/entry/190685 Please add an example of usage for proposed term:iPS cell line arising from an individual who has Down Syndrome 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: I would think this would go under "Disease/Mental Disorders" but that section of the ontology is awfully thin and we may want to fold the conditions there into the "Disease/Diseases of the Nervous System" or add a "Disease/Chromosomal abnormalities" (Though the chromosomal abnormality is really a genotype, not so much of a Disease. * 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=205

[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 12:33:32

http://purl.bioontology.org/ontology/MSH/D004314 Added to MESH imports

Status: Fixed