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 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. Examples: MED12-related intellectual disability syndrome, TTN-related myopathy, MYPN-related myopathy
Contributors¶
Name¶
{disease} caused by mutation in {gene}
Annotations¶
-
exact_synonym: {gene} {disease}
-
exact_synonym: {gene} related {disease}
Definition¶
Any {disease} in which the cause of the disease is a mutation in the {gene} gene.
Equivalent to¶
{disease} and disease has basis in dysfunction of some {gene}