Standard Search and Advanced SearchThe 'Standard Search' allows searching for disease names and disease symptoms. After typing a few characters, the autocompletion shows search terms that are available in the database. As result a list of diseases will appear. The Advanced Search offers a list with additional search options under 'Field'. In addition, 'Refine Query' enables combined searches using 'AND', 'OR' and 'NOT', e.g. Disease Classification= 'Mitochondria' AND Age of onset = 'Adult'
General information and prevalence, inheritance and age of onsetInformation from this section was mainly retrieved from OMIM and Orphanet. If available, missing and additional information is manually added from scientific literature.
Disease classificationDisease classification from Orphanet is shown in PhenoDis. Diseases that are associated with a certain term of the classification system can be easily retrieved by applying the advanced search (Disease Classification).
Symptom informationPhenoDis offers manually annotated diseases from our group, in particular in the area of metabolic diseases and diseases affecting muscles, heart, blood and lung. In addition, we have included symptom information from OMIM, Human Phenotype Ontology and Orphanet. The origin of the symptom information is indicated in the source field.
Symptom terms in PhenoDis are primarily annotated by using the HPO ontology. In case where a term from OMIM or MedDRA allows a more precise description of a significant symptom, we annotate this term in addition. HPO terms in PhenoDis are linked to a website with additional information such as all other diseases associated with this symptom, a hierarchical view of the symptom in the HPO ontology, as well as a list of synonyms known for the corresponding symptom.
Frequency provides information about categories that reflect the relative occurrence of a symptom in patients. The respective resource that created this information is indicated in brackets. If available, more precise information can be found in ‘Specific frequency’.
Specific frequency is information that is only ceated from our group. It includes the percentage of patients that show a symptom as well as the cohort size/number of evaluated patients "86% (n=324)" means that 86% of 324 patients with a certain disease showed a particular symptom. In small studies we use ‘2/3’, which is two of three patients. We show the literature reference of this information in the PubMed field.
DB Freq shows in how many diseases from PhenoDis the symptom is found.