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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(

Note that the isolated and syndromic forms will be inferred to be disjoint due to the GCI pattern.



syndromic {disease}



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