Scope and Usage
Attributes
| Name | Type | Cardinality | Description | IRI | Defined in |
|---|---|---|---|---|---|
| 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 |
| evidenceLine | EvidenceLine | 0..* | supporting evidence | SEPIO:0000006 | 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 |
Instances
| ID | label | description | userLabelDictionary | outcomeQualifier | evidenceLine | condition | statementOutcome |
|---|---|---|---|---|---|---|---|
|
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 |
(Complete) | ||||||
|
the disease manifests as hundreds of colorectal ademonas during adolescence. This can progress to colorectal cancer later in life, but the adenomas manifest early. |
(Complete) | ||||||
|
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. |
(Complete) | ||||||
| (High) | |||||||
| (High) | |||||||
| (High) | |||||||
| (Incomplete) |