Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Disease Modifier

Synonyms

Phenotypic Modifier

Definitions

A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease.

ID

http://purl.obolibrary.org/obo/SCDO_0000391

curator note

These article contains a recent description of disease modifiers for SCD: http://www.nejm.org/doi/10.1056/NEJMra1510865 -- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562292/ -- -- Paper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Initially, the HP term "Clinical Modifier" (HP:0012823) was used to define this class, but its usage was found to be more "ontology-based" than what the SCDO intended.

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dc:creator

SCDO (Jade Hotchkiss)

definition

A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease.

existence in other ontologies

None

hasExactSynonym

Phenotypic Modifier

prefixIRI

SCDO:0000391

prefLabel

Disease Modifier

rdfs:label

Disease Modifier

subClassOf

http://purl.obolibrary.org/obo/SCDO_0001000

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http://purl.obolibrary.org/obo/HIO_0000371 HIO LOOM