Scope and Usage
|condition||GeneticCondition||0..*||Condition for which the penetrance is described||SEPIO:0000276||ConditionPenetranceStatement|
|statementOutcome||@id||0..1||Qualitative penetrance value||SEPIO:0000197||ConditionPenetranceStatement|
|label||string||0..1||A name given to the resource.||RDFS:label||Entity|
|description||string||0..1||Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource.||DC:description||Entity|
|userLabelDictionary||UserLabel||0..*||An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels.||SEPIO:0000422||Statement|
|outcomeQualifier||string||0..1||Use “NOT” as the value of this property to assert that the statement is negated.||SEPIO:0000346||Statement|
|contribution||Contribution||0..*||The contributions (agent, time and role) made to this entity||SEPIO:0000159||Statement|
|source||string||0..*||A string indicating the source of a Statement||DC:source||Statement|
The evidence for full penetrance is not great, due to the rarity of the disease, but the fact that it's diagnosed at a young age and majority of cases are de novo is suggestive
the disease manifests as hundreds of colorectal ademonas during adolescence. This can progress to colorectal cancer later in life, but the adenomas manifest early.
Marfan syndrome involves a range of skeletal features that should be identifiable at birth, if not during adolescence. The ocular and cardiovascular aspects may manifest later. 1/4 of mutations are de novo.