Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Aug 5;8:205. doi: 10.1038/s41597-021-00984-x

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

The Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/zero/1.0/ applies to the metadata files associated with this article.

PMC Copyright notice

Fig. 4 — Visualisation of ontological annotation in the ACO2 dataset by disease. Subgraphs of the mode of inheritance (HPO# HP:0000005), the phenotypic abnormalities (HPO# HP:0000118) and the natural history of the disease (Clinical Course, HPO# HP:0031797), descending from the root of all terms (All; HPO# HP:0000001) in the Human Phenotype Ontology: (a) for the 92 patients reported with an isolated or predominant optic neuropathy; (b) for the 21 remaining patients reported with a syndromic form. Terms which are annotated to exactly the same objects as well as all of their children have been removed, showing only informative terms. Arrows indicate relations between terms in the ontology. Colors correspond to the frequency of the phenotypes, from the least frequent in yellow to the most frequent in blue, the green color corresponding to a term present in half of the patients. Human readable shortened ontological term names were used (where possible). Data as of June 8, 2020.