HPO Tools

HPO-based tools support data entry, diagnostics, biocuration, and genomic analysis.

---

Data Entry

• SAMS
  Symptom Annotation Made Simple
  More information PubMed

• Phenotips
  Web-based patient phenotyping & family history recording
  Visit

---

Differential Diagnostic Support

• Phenomizer
  First HPO-based algorithm for disease prioritization (2009–2023)
  PubMed

• LIRICAL
  Likelihood-ratio–based interpretation of clinical exomes
  GitHub PubMed

• ClintLR Clinical Intuition for Likelihood Ratios
  GitHub PubMed

---

Genomic Diagnostics

• Exomiser
  Phenotype-driven prioritization of variants from exome/genome sequencing
  GitHub PubMed

• SvAnna
  Structural variant Annotation and analysis
  GitHub PubMed

---

Biocuration

• GA4GH Phenoboard
  Collaborative environment for HPO-based phenotype annotation
  Visit