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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 isolated form of a disease when a term exists for the isolated/syndromic-neutral version. In general, this pattern should be used in parallel with syndromic. 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.

Examples: 'isolated aniridia', 'isolated dystonia', 'isolated focal palmoplantar keratoderma'



isolated {disease}



A {disease} that is not part of a larger syndrome.

Equivalent to

{disease} and has characteristic some has an isolated presentation

Data preview

defined_class defined_class_label disease disease_label
MONDO:0020075 genetic non-syndromic obesity MONDO:0019182 inherited obesity
MONDO:0017262 inherited non-syndromic ichthyosis MONDO:0015947 inherited ichthyosis
MONDO:0016462 isolated agammaglobulinemia MONDO:0015977 agammaglobulinemia
MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0015770 congenital hypogonadotropic hypogonadism
MONDO:0017667 isolated diffuse palmoplantar keratoderma MONDO:0017666 diffuse palmoplantar keratoderma

See full table here