observational clinical study
patient phenotyping study
Source: ClinVar (" 'Phenotyping only' is intended for variants that are submitted to ClinVar to provide individual observations with detailed phenotype data, such as submissions from clinicians or patient registries, without an interpretation from the submitter. The interpretation from the testing laboratory may be provided in a separate field.")
ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/release_notes/20170803_data_release_notes.pdf
A study with the goal of assessing and documenting phenotypes exhibited by one or more patients.