Adding patient info for the proband
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Add new case page > Family tree screen > Add patient information panel > Patient info section
Note: The fields marked with (*) are mandatory.
Options: Male, Female, Unknown.
The default fixed value for Proband is Test Subject.
Expected format: mm/dd/yyyy.
Options: Affected, Healthy.
The default value for Proband is Affected, but you may change it to Healthy.
To add all relevant phenotypes for the Proband, use one of the following methods:
Automatically infer disease-associated phenotypes (see Proband Suspected Disease Condition below).
Note: the maximum permissible number of Proband Phenotypes is 100.
Please follow the steps described below for each phenotype:
Enter an HPO term (e.g., Hypoplasia of the ulna), an HPO ID (e.g., HP:0003022), or a descriptive phenotype name (e.g., Underdeveloped ulna) in the search box.
Select a matching term from a dropdown menu and press Complete after you've added all the terms and additional patient information below.
Paste a list of comma-separated HPO terms or HPO IDs (🆕32.0+) in the search box and press Complete.
Notes:
A popup notification will appear at the bottom of the page if any input HPO term or HPO ID is unknown.
Only phenotypes from the 'Phenotypic abnormality' HPO branch are currently supported.
In the Clinical Notes section upload a description of the clinical presentation in .pdf, .xls, .txt, .doc, .jpeg, or .jpg format. Among the extracted HPO terms for Phenotypes and Diseases select the ones you want to add to Proband's Phenotypes.
Enter the disease name in the search box, select a matching term from a dropdown menu and press Complete. All the associated phenotypes will be automatically added to the Proband Phenotypes. To remove any phenotype described for the disease but not observed in your patient, click the ☒ button next to the HPO term in the Proband Phenotypes list.
Enter the suspected disease penetrance as a percentage.
Select the appropriate category to indicate the severity of the disease symptoms observed in the patient: Mild, Moderate, Severe, Profound.
Mark the checkbox if applicable.
Note: If consanguinity is identified in the Proband's parents, but this box is not selected in case creation, this will result in a discrepancy alert in the Lab tab.
Paternal and Maternal. Enter the ethnicity name in the search box and select a matching term from a dropdown menu.
