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Contribute to the PhenX Toolkit by providing information about measures you use for specific rare genetic conditions

Share the protocols you use and help PhenX investigators annotate PhenX measures for specific rare genetic conditions.

Please choose a rare genetic condition from the list below.

Begin typing to autofill    Type rare disease if not listed

1. Click here to see the full list: begin typing the rare condition name and then select from suggested auto-fill. If your rare genetic condition of interest is not on the list, please enter it in the box to the right.

2. Click on each PhenX domain name below to browse and mark measures that you think are useful to study this rare genetic condition. Or enter a keyword into the PhenX Smart Query Tool (SQT) to find measures of interest. In general, PhenX measures are not used to make diagnoses. For example, “blood pressure” is a measure in the Toolkit, rather than hypertension or hypotension. In most cases finding measure(s) of interest in a domain is straightforward, e.g. “Height” and “Weight” are in the Anthropometrics domain. However, if you browse the Cardiovascular domain looking for “Stroke” – it isn’t there. Use the search function to search for keywords across all domains. For example, if you enter "Stroke" as the search term, “Stroke” will appear in all the search results and you will see that it is in the Neurology domain.

3. Provide a citation for using this protocol to study this rare genetic condition.

4. Add comments about the usefulness of the measure.

5. Hit the SUBMIT button in the bottom left corner to submit your information.
If you want to be able to return to the form and see your previous work, please provide your email address:

Email:

If you would like to provide additional feedback, such as thoughts on the annotation process, please send an email to: feedback@phenx.org

Alcohol, Tobacco and Other Substances
Anthropometrics
Assessment of Substance Use and Substance Use Disorders
Cancer
Cardiovascular
Demographics
Diabetes
Eating Disorders Specialty Collection
Environmental Exposures
Gastrointestinal
Infectious Diseases and Immunity
Mental Health Research Core: Tier 1
Neurology
Nutrition and Dietary Supplements
Obesity
Ocular
Oral Health
Physical Activity and Physical Fitness
Post-traumatic Stress Psychopathology (including PTSD) Specialty Collection
Psychiatric
Psychosocial
Rare Genetic Conditions
Reproductive Health
Respiratory
Sickle Cell Disease: Cardiovascular, Pulmonary, and Renal Specialty Collection
Sickle Cell Disease: Core Tier 1
Sickle Cell Disease: Core Tier 2
Sickle Cell Disease: Neurology, Quality of Life, and Health Services Specialty Collection
Skin, Bone, Muscle and Joint
Social Environments
Speech and Hearing
Substance Abuse and Addiction Core: Tier 1
Substance Abuse and Addiction Core: Tier 2
Substance-specific Intermediate Phenotypes
Suicide Specialty Collection
Tobacco Regulatory Research - Host: Biobehavioral
Tobacco Regulatory Research - Host: Social/Cognitive
Tobacco Regulatory Research: Agent
Tobacco Regulatory Research: Environment
Tobacco Regulatory Research: Vector


Please provide us with demographic information about yourself for statistical purposes (optional):



   

*PhenX is a consensus process to identify standard high-priority measures of phenotypes and exposures for use in Genome-wide Association Studies (GWAS) and more generally, epidemiological and biomedical research. The measures are made available to the scientific community via the PhenX Toolkit, an online catalog available at https://www.phenxtoolkit.org/. PhenX is funded by the National Human Genome Research Institute (NHGRI) with co-funding by the National Institute on Drug Abuse (NIDA).

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