OMIM_disease_series_by_gene¶
http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene.yaml
Description¶
This pattern is meant to be used for (1) OMIM Mendelian diseases (ie unitary genetic diseases, as described in PMID:33417889), including children of OMIM phenotypic series (OMIMPS), which are represented as grouping classes in Mondo, and (2) OMIA Mendelian diseases (https://omia.org/) which are defined by a variation in a gene. Notes about the OMIMPS (see also OMIM_phenotypic_series.yaml): - every instance of the OMIMPS metaclass should be equivalent to (via annotated xref) to something in OMIMPS namespace - the OMIMPS will never have an asserted causative gene as logical axiom (and no single causative gene in text def) - the OMIMPS must never be equivalent to an OMIM:nnnnnn (often redundant with the above rule) - the OMIMPS must have an acronym synonym, e.g. HPE - the OMIMPS must have two or more subclasses (direct or indirect) that are equivalent to OMIMs and conform to this pattern - the subclasses should (not must) have a logical def that uses the PS as a genus - the OMIM subclasses must have acronym synonyms that are the parent syn + number, e.g. HPE1, HPE2 - the primary label for the children should also be parent + {"type"} + number - the first member will usually have the same number local ID as the PS Examples: holoprosencephaly 1, 3M syndrome 1
Contributors¶
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432
- https://orcid.org/0000-0002-4142-7153
Name¶
{disease} caused by variation in {gene}
Annotations¶
- exact_synonym: {gene} {disease}
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}