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OntoClick_Pitch_HealthHack_2017.pdf

Andreas Zankl
September 01, 2017

 OntoClick_Pitch_HealthHack_2017.pdf

Andreas Zankl

September 01, 2017
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  1. Things computers can do with HPO Find the right diagnosis

    (Phenomizer) Find the right mutation (Genomizer) Find similar patients (Matchmaker)
  2. Looking up HPO terms takes time Go to HPO website

    Type in your search term Copy the correct HPO term Paste it where you need it
  3. The patient had bowed femurs, a large head and short

    toes. bowed femurs HP:0002980 “Femoral Bowing” Bowing (abnormal curvature) of the femur. HPO ID and preferred label: Recognised text: Textual definition: Superclasses: Abnormality of femur morphology; Bowing of the legs Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone Synonyms Subclasses: Femoral bowing present at birth, straightening with time; Lateral femoral bowing; Distal femoral bowing
  4. Lots of other useful Ontologies available through Bioportal API Gene

    Ontology Disease Ontology Mammalian Phenotype Ontology