disease_series_by_gene

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

Description

This pattern is for diseases that are caused by a single variation or mutation in a single gene, that have gene-based names, such as new disease terms that are requested by ClinGen, like MED12-related intellectual disability syndrome. See more details about disease naming in Mondo here. Examples: MED12-related intellectual disability syndrome, TTN-related myopathy, MYPN-related myopathy

Contributors

• https://orcid.org/0000-0002-6601-2165
• https://orcid.org/0000-0001-5208-3432

Name

{disease} caused by variation in {gene}

Annotations

• exact_synonym: {gene} {disease}

• exact_synonym: {gene} related {disease}

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

Definition

Any {disease} 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}