disease_series_by_gene¶
URL¶
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¶
Classes¶
- disease: MONDO:0000001
- gene: SO:0001217