Describing a phenotype: Using HPO terms

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The Human Phenotype Ontology (HPO) is a database that provides a standardised vocabulary of phenotypic abnormalities found in human disease. It provides a centralised source for describing an individual's signs and symptoms consistently and accurately, and it allows for the use of a standard vocabulary in clinical databases, which can help clinicians studying rare diseases worldwide.

This in-depth video tutorial looks at how HPO terms are used in genomics. It covers what we mean by HPO terms, why they are important in clinical practice and how you can access and use the HPO database yourself.

NHS England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.

  1. Genomics Education Programme
  2. genomics
  3. genetics
  4. dna
  5. personalised medicine
  6. medicine
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Describing a phenotype: 0:09:39

Describing a phenotype: Using HPO terms

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Translating Human to Models and Back Again: Phenotype Ontologies ... - Melissa Haendel

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J. M. Hancock - Relating human disease to mouse phenotype

P. Schofield - 1:04:52

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Investigating mapping between 0:29:27

Investigating mapping between Human Phenotype Ontology & SNOMED CT - Graham Ponting (202062)

Outlining the clinical 0:08:21

Outlining the clinical landscape of SYNGAP1, a computational phenotype approach - RILEY KESSLER, MD

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where i can find the presentation slides?

hamzaothman