ega-4-defs-phenotypic-abnormality.md

Phenotypic abnormality Schema

https://raw.githubusercontent.com/EbiEga/ega-metadata-schema/main/schemas/EGA.individual.json#/properties/minimalPublicAttributes/properties/phenotypicAbnormalities/items/properties/phenotypicAbnormality

Property to describe any abnormal (i.e. deviation from normal or average) phenotype (i.e. detectable outward manifestations of a specific genotype).

Abstract	Extensible	Status	Identifiable	Custom Properties	Additional Properties	Access Restrictions	Defined In
Can be instantiated	No	Unknown status	No	Forbidden	Allowed	none	EGA.individual.json*

phenotypicAbnormality Type

object (Phenotypic abnormality)

all of

• Ontology term

phenotypicAbnormality Properties

Property	Type	Required	Nullable	Defined by
termId	Merged	Optional	cannot be null	EGA common metadata definitions

termId

termId

• is optional

• Type: merged type (Ontology constraints for this specific termId)

• cannot be null

• defined in: EGA common metadata definitions

termId Type

merged type (Ontology constraints for this specific termId)

any of

• Ontology validation of phenotypic abnormality

• In case the phenotypic abnormality is unknown or there is none

termId Examples

"HP:0003003"

"HP:0010442"

"HP:0002515"

"NCIT:C17998"

"NCIT:C94232"