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This pattern is meant to be used for 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. 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



{disease} caused by variation in {gene}



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}