disease_series_by_gene_and_inheritance¶
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, and are inherited by a specific mechanism, succh as autosomal dominant and autosomal recessive. Examples: Growth hormone insensitivity syndrome with immune dysregulation, Growth hormone insensitivity with immune dysregulation 1, autosomal recessive and Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
Contributors¶
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432
- https://orcid.org/0000-0002-7356-1779
Classes¶
- disease: MONDO:0000001
- gene: SO:0000704
- mode of inheritance: HP:0000005