nonhuman_disease_series_by_gene

http://purl.obolibrary.org/obo/mondo/patterns/nonhuman_disease_series_by_gene.yaml

Description

This pattern is for non-human diseases that are defined based on a variation in one gene, such as many genetic diseases from the Online Mendelian Inheritance in Animals (OMIA). Examples: TBD

Contributors

• https://orcid.org/0000-0002-4142-7153
• https://orcid.org/0000-0002-5002-8648

Name

{disease} caused by variation in {gene}, {taxon}

Annotations

• exact_synonym: {gene} {disease}, {taxon}

• exact_synonym: {gene} related {disease}, {taxon}

• exact_synonym: {disease} caused by mutation in {gene}, {taxon}

Definition

Any {disease}, occuring in {taxon}, in which the cause of the disease is a variation in the {gene} gene.

Equivalent to

{disease} and (has material basis in germline mutation in some {gene}) and (in taxon some {taxon})