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 Nov 4;375:e066288. doi: 10.1136/bmj-2021-066288

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

© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. No commercial re-use. See rights and permissions. Published by BMJ.

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig 3 — Human Phenotype Ontology (HPO) terms for participants recruited. Top: most commonly recorded clinical HPO terms, including delayed gross motor development, intellectual disability, and myopathy. Middle: most commonly recorded investigation results HPO terms, including decreased activity of mitochondrial complex IV, lactic acidosis, and decreased activity of mitochondrial complex I. Bottom: total number of HPO terms recorded for 345 participants according to ancestor HPO system (some HPO terms have more than one ancestor HPO system)