Construct · 1 fields · 1 citations

Human Phenotype Ontology: a standalone construct

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Medical genetics

a standardized, structured vocabulary of phenotypic abnormalities used to describe and compare features of hereditary disease.

In medical genetics, Human Phenotype Ontology refers to a standardized, structured vocabulary of phenotypic abnormalities used to describe and compare features of hereditary disease. This meaning comes from Robinson (2008) in The American Journal of Human Genetics.[1]

Unit
Recovery means
Measured by

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Nearby constructs

ontology3 fields · 7 citationsjingle · one word, three constructs phenotype4 fields · 4 citationsjingle · one word, four constructs

References

Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008). The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics, 83(5), 610-615. https://doi.org/10.1016/j.ajhg.2008.09.017

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