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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

To be completed