File Entry: HTT-HPO concept profile match result

Created: 2014-10-20 08:26:32      Last updated: 2014-10-20 08:35:28
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Version created on: 2014-10-20 08:26:32

Last edited on: 2014-10-20 08:35:28

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Example Concept Profile of the Human Phenotype named 'Chorea' also referred to by as Human Phenotype Ontology concept HP_0002072.

This file contains a list of concepts from the Human Phenotype Ontology, ranked according to Concept Profile Matching with the profile of huntingtin, the protein whose aberrant form is the cause of Huntington's Disease.

HPO-UMLS mapping: Winnenburg, R., & Bodenreider, O. (2014). Coverage of Phenotypes in Standard Terminologies. In Proceedings of the ISMB’2014 SIG meeting “BioLINK.” Retrieved from
Concept Profiles version: July 2012

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