syndromic¶
http://purl.obolibrary.org/obo/mondo/patterns/syndromic.yaml
Description¶
Some diseases exist in both isolated and syndromic forms. For example, aniridia (MONDO_0019172 aniridia, MONDO_0020148'syndromic aniridia' and MONDO_0007119 'isolated aniridia'. Use this pattern to define the syndromic form of a disease when a term exists for the isolated/syndromic-neutral version. In general, this pattern should be used in parallel with isolated. E.g. if you make a term 'syndromic disease, you should also have 'isolated disease' [see pattern here(https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/isolated.yaml).
Note that the isolated and syndromic forms will be inferred to be disjoint due to the GCI pattern.
Contributors¶
Name¶
syndromic {disease}
Annotations¶
-
exact_synonym: syndromic {disease}
-
related_synonym: syndrome associated with {disease}
Definition¶
A {disease} that is part of a larger syndrome.
Equivalent to¶
{disease} and has characteristic some syndromic
Data preview¶
| defined_class | defined_class_label | disease | disease_label |
|---|---|---|---|
| MONDO:0017263 | inherited ichthyosis syndromic form | MONDO:0015947 | inherited ichthyosis |
| MONDO:0016463 | syndromic agammaglobulinemia | MONDO:0015977 | agammaglobulinemia |
| MONDO:0002254 | syndromic disease | MONDO:0700096 | human disease or disorder |
| MONDO:0015905 | syndromic dyslipidemia | MONDO:0002525 | inherited lipid metabolism disorder |
| MONDO:0016565 | syndromic genetic obesity | MONDO:0019182 | inherited obesity |
See full table here