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:
If you would like to provide additional feedback, such as thoughts on the annotation process, please send an email to: firstname.lastname@example.org
Alcohol, Tobacco and Other Substances
Assessment of Substance Use and Substance Use Disorders
Eating Disorders Specialty Collection
Infectious Diseases and Immunity
Mental Health Research Core: Tier 1
Nutrition and Dietary Supplements
Physical Activity and Physical Fitness
Post-traumatic Stress Psychopathology (including PTSD) Specialty Collection
Rare Genetic Conditions
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
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
. PhenX is funded by the National Human Genome
Research Institute (NHGRI) with co-funding by the National Institute on Drug Abuse (NIDA).