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Home | Human Phenotype Ontology

Homepage for the Human Phenotype Ontology Project and related resources.

http://human-phenotype-ontology.github.io/

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Home | Human Phenotype Ontology | human-phenotype-ontology.github.io Reviews

https://human-phenotype-ontology.github.io

Homepage for the Human Phenotype Ontology Project and related resources.

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1

Documentation | Human Phenotype Ontology

http://human-phenotype-ontology.github.io/documentation.html

This page is split into:. An Introduction to the Human Phenotype Ontology. The Human Phenotype Ontology (HPO) intends to offer a tool that will allow large-scale computational analysis of the human phenome. The HPO currently contains over 11,000 terms, each of which describes an individual phenotypic anomaly. The terms are arranged in a directed acyclic graph and are connected by is-a. Relationships, i.e. simple class-subclass relationships. For instance,. Abnormality of the feet. Or very specific such as.

2

Translations of HPO | Human Phenotype Ontology

http://human-phenotype-ontology.github.io/2016/05/06/translations.html

May 6, 2016. Translations of HPO into multiple languages. The guys at crowdin. Were so nice to give us a free account to host the translation project for HPO. We already have a lot of content translated to spanish, italian and german (see our github project. Please join this effort at crowdin: HPO translation. If you have any questions or seek for other ways to provide translations.

3

Downloads | Human Phenotype Ontology

http://human-phenotype-ontology.github.io/downloads.html

In general, users should always use the PURL (persistent URL) to access the HPO-data, i.e. Http:/ purl.obolibrary.org/obo/hp.obo. Http:/ purl.obolibrary.org/obo/hp.owl. This currently re-directs you to our Hudson/Jenkins page. Hudson/Jenkins are continuous integration systems, that will provide stable releases. The annotation files (e.g. phenotype annotation.tab) from our Hudson/Jenkins page. The format of the annotation file is explained under Documentation. Phenotype annotation hpoteam.tab. To link bet...

4

New HPO Release (April) | Human Phenotype Ontology

http://human-phenotype-ontology.github.io/2016/04/01/release_april.html

New HPO Release (April). April 1, 2016. HPO release - April 2016. We have just published a new HPO release for April 2016. This includes the HPO ontology. IMPORTANT: This does NOT include the associated annotations. Due to the recent change of the OMIM license. We do not (until further notice) make our updates to the annotations available. We hope that the licensing discussions will soon be successful! This new release comes again with a lot of changes:. A lot new terms. And list of commits.

5

About | Human Phenotype Ontology

http://human-phenotype-ontology.github.io/about.html

An ontology is a computational representation of a domain of knowledge based upon a controlled, standardized vocabulary for describing entities and the semantic relationships between them. All of our data is available for download or can be browsed online, but please read the license. And please read this publication. The HPO is now being developed at the Charité Berlin. And with the Monarch Initiative. The HPO can be used for clinical diagnostics in human genetics ( Phenomizer.

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Human - Mouse Disease Connection

http://www.informatics.jax.org/humanDisease.shtml

Human - Mouse: Disease Connection. The Human - Mouse: Disease Connection (HMDC) is designed to facilitate the identification of published and potential mouse models of human disease, the discovery of candidate genes and the investigation of phenotypic similarity between mouse models and human patients. More …. Downloads and Useful Links. Mouse Genotypes with both Phenotype and Disease Annotations. For Marker Type Genes, excluding conditional mutations. All downloads for Alleles and Phenotypes. Beta: Exom...

gene42.com gene42.com

Products | Gene42

http://www.gene42.com/products

Smart software for clinical genetics. PhenoTips is Gene42’s flagship product, offering smart patient data capture utilizing standardized clinical vocabularies. Used in a diverse range of patient settings across the world, it has been proven to improve diagnostic accuracy for patients suffering from diseases with genetic bases. Flexible and versatile, PhenoTips is easy to customize and integrate with established clinical workflows and systems. Using the Human Phenotype Ontology (HPO). Advanced annotation ...

mseqdr.org mseqdr.org

MToolBox Pipeline @ MSeqDR

https://mseqdr.org/mtoolbox.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MToolBox Pipeline @ MSeqDR. Option 1: Copy and Paste Your FASTA Input Here. Option 2: Upload Input File. Drag and Drop fasta (single sequence fasta only), fastq, fastq.gz, bam, sam file here, file size up to 50MB. Check Samples to Analyze:. 1 2016-08-26-02-50-2467 input.fasta. 2 data88.sorted.bam. 5 2016-08-13-21-19-6985 input.fasta. 10,217.2 KB. 300,630....

mseqdr.org mseqdr.org

MSeqDR/GEM.app Tutorial at UMDF Mitochondrial Medicine 2015

https://mseqdr.org/umdf15.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR/GEM.app Tutorial at UMDF Mitochondrial Medicine 2015. Over 50 clinicians, scientists and genetic counselors, from over worldwide institutes and hospitals, attended the workshop. Please send us your comments by filling out the Online Survey. Thank you for your time and participation! The MSeqDR-GEM.app-GeneMatcher team.

mseqdr.org mseqdr.org

MSeqDR Tutorials and Examples

https://mseqdr.org/tutorial.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Tutorials and Examples. The first paper describing the MSeqDR Project is accepted for publication: Pubmed 25542617. Mol Genet Metab. 2014 Dec 4. pii: S1096-7192(14)00377-1. doi: 10.1016/j.ymgme.2014.11.016. Introduction to using MSeqDR: swf. Format. Tutorial was prepared by Dr. Marni Falk, 20 min. Hands-on exercises and walk throughs. About the webpage...

mseqdr.org mseqdr.org

MSeqDR Data and Project List

https://mseqdr.org/data.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Data and Project List. 1 Transcriptome of mitochondrial dysfunctions ToMD. Integrative analysis of independent transcriptome data for rare diseases. The tool is developed by Drs. Zhe Zhang and Marni Falk at CHOP. MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA. About the webpages, contact MSeqDR webmaster.

mseqdr.org mseqdr.org

MSeqDR Documentation

https://mseqdr.org/documentation.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. Data Capture from collaborators and public sources. Joint genomic feature search and visualization. Mitochondrial diseases, pathogenic variants, genes and phenotypes. Account and data access management. HBCR variant annotation HBCR. At Center for Mitochondrial and Epigenomic Medicine. Manually curated by Marie Lott. Of the Center for Biomedical Informatics.

mseqdr.org mseqdr.org

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier @ MSeqDR

https://mseqdr.org/phymer.php

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. Phy-Mer: Mitochondrial haplogroup classifier @ MSeqDR. Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. It supports input in fasta (single or multiple), single sample fastq, bam, csv formats. Option 1: Copy and Past Your Input Below. Notice me when finished. Option 2: Upload Input File. 13 sequence2.fasta - 16...

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Home | Human Phenotype Ontology

New HPO Release (September). September 3, 2016. HPO release - September 2016. New HPO Release (July). July 4, 2016. HPO release - July 2016. May 6, 2016. Translations of HPO into multiple languages. New HPO Release (April). April 1, 2016. HPO release - April 2016. Page: 1 of 5.

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Human Phenotype Ontology Website - The Human Phenotype Ontology

62; Human Phenotype Ontology Website. An ontology is a computational representation of a domain of knowledgebased upon a controlled, standardized vocabulary for describing entities and the semantic relationships between them. The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Terms in the HPO describes a phenotypic abnormality, such as. Or can be browsed online (please see this publication. The HPO project encourages inpu...

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Human Pheromone Reviews | Home | are pheromones real?

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Human Pheromone

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