Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Human Genetics01:28

Human Genetics

1.2K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.2K
Pleiotropy01:33

Pleiotropy

42.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
42.4K
Polygenic Traits01:18

Polygenic Traits

68.0K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
68.0K
Anatomical Terminology01:20

Anatomical Terminology

23.9K
Knowledge of anatomy is essential to understand human biology and medicine. Anatomists and health care professionals use standard terminology to describe the human body with more precision and no ambiguity. Anatomical terms have mostly Greek and Latin-derived roots. Because these languages are rarely used in conversation, the meaning of words remains the same. Each term is made up of a root in between the prefixes and suffixes. The root of a term often refers to an organ, tissue, or condition,...
23.9K
Incomplete Dominance01:43

Incomplete Dominance

28.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
28.9K
X-linked Traits01:19

X-linked Traits

57.3K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
57.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

American journal of human genetics·2026
Same author

Childhood Interstitial Lung Disease-Successful Application of a Stepwise Diagnostic Classification.

Journal of clinical medicine·2026
Same author

Fusion Annotator: A Platform for Accelerating Consensus-Driven Ground Truth Generation with AI Assistance.

Proceedings of SPIE--the International Society for Optical Engineering·2026
Same author

Further Genetic Unraveling of Persistent Tachypnea of Infancy.

Chest·2026
Same author

Clinical, Histologic, and Serological Predictors of Renal Function Loss in Lupus Nephritis.

Arthritis care & research·2026
Same author

Low Urine Uromodulin Levels are Associated With Interstitial Fibrosis and Tubular Atrophy in Native Kidney Biopsies.

Kidney international reports·2026

Related Experiment Video

Updated: Nov 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K

The Human Phenotype Ontology in 2021.

Sebastian Köhler1,2, Michael Gargano2,3, Nicolas Matentzoglu2,4,5

  • 1Ada Health GmbH, Berlin, Germany.

Nucleic Acids Research
|December 2, 2020
PubMed
Summary
This summary is machine-generated.

The Human Phenotype Ontology (HPO) has expanded its standardized vocabulary for describing disease phenotypes, enhancing cross-species analysis and electronic health record integration for better genetic research and clinical applications.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.0K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K

Related Experiment Videos

Last Updated: Nov 27, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.0K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K

Area of Science:

  • Biomedical Informatics
  • Genetics and Genomics
  • Clinical Medicine

Background:

  • The Human Phenotype Ontology (HPO) provides a standardized vocabulary for describing phenotypic abnormalities in human disease.
  • Established in 2008, HPO has become a global standard for phenotype data exchange, driven by contributions from clinical experts and researchers.
  • Continuous development is essential to maintain HPO's relevance and utility in a rapidly evolving scientific landscape.

Purpose of the Study:

  • To report recent major extensions and enhancements to the Human Phenotype Ontology (HPO).
  • To detail efforts in harmonizing computational definitions across HPO and animal model ontologies.
  • To summarize advances in HPO's application in electronic health record systems and translation initiatives.

Main Methods:

  • Incorporation of clinical expert guidelines, such as the International League Against Epilepsy (ILAE) guidelines, into specific HPO subontologies (e.g., seizures).
  • Development of computational strategies to harmonize phenotype definitions across different ontologies for improved cross-species matching.
  • Implementation and evaluation of HPO in electronic health record systems and translation into indigenous languages.

Main Results:

  • Significant extensions of HPO in key areas including neurology, nephrology, immunology, pulmonology, and newborn screening.
  • Demonstrated clinical validity of enhanced HPO subontologies, exemplified by the seizure subontology aligning with ILAE guidelines.
  • Improved accuracy and scope of cross-species phenotype matching through ontology harmonization, benefiting tools like Exomiser.
  • Progress in translating HPO into indigenous languages and its successful integration into electronic health record systems.

Conclusions:

  • The Human Phenotype Ontology continues to evolve as a critical resource for standardizing and analyzing phenotypic data in human disease.
  • Recent extensions and harmonization efforts enhance HPO's utility for clinical research, cross-species comparisons, and clinical applications.
  • The ongoing integration of HPO into electronic health records and global translation efforts underscore its expanding impact on biomedical research and healthcare.