HPO input

It is recommended to be complete and specific when defining the input HPO terms to describe a patient’s phenotype in Moon. Only terms within HPO branch ‘Phenotypic abnormality’ are supported as input. Below are some guidelines to optimise HPO input:

• The inputted HPO terms should give a complete picture of all clinical features, laboratory abnormalities (eg. metabolic abnormalities) and additional test results (eg. results from MRI) that are available for the patient.

• Avoid only using high-level terms like 'abnormality of the skeletal system’. Such terms cover a range of very different clinical features that are more informative. As an example, terms like ‘polydactyly’ or ‘recurrent fractures’ would be more informative than using 'abnormality of the skeletal system’. On the Patient info screen, additional HPO terms are suggested to refine the input phenotype. Simply click Add to include the listed HPO terms in the analysis.

• You may enter overlapping terms (including a combination of specific and more general terms) in the list of input HPO terms. Eg. both ‘Focal seizures’ and ‘Seizures’ can be inputted for a single patient.

• Also include terms to describe symptoms that are secondary to other features. You could for example select a HPO term to describe a specific brain abnormality seen on MRI, in addition to one or more HPO terms that describe the neurological symptoms that result from this brain abnormality.

• For prenatal cases, make sure to include ‘Abnormality of prenatal development or birth’ (HP:0001197) as part of the patient’s clinical description to optimise results.

• The HPO browser can be of help to find the HPO terms of interest for your patient, or explore terms related to terms of interest in the ontology.