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¶
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}