isolated

http://purl.obolibrary.org/obo/mondo/patterns/isolated.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 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(https://github.com/monarch-initiative/mondo/blob/master/src/patterns/dosdp-patterns/syndromic.yaml). 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'

Contributors

• https://orcid.org/0000-0002-6601-2165
• https://orcid.org/0000-0001-5208-3432

Name

isolated {disease}

Annotations

• exact_synonym: nonsyndromic {disease}

Definition

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

Equivalent to

{disease} and has modifier some isolated

Data preview

defined_class	defined_class_label	disease	disease_label
MONDO:0016342	familial isolated arrhythmogenic right ventricular dysplasia	MONDO:0016587	arrhythmogenic right ventricular cardiomyopathy
MONDO:0020075	genetic non-syndromic obesity	MONDO:0019182	monogenic obesity
MONDO:0017262	inherited non-syndromic ichthyosis	MONDO:0015947	inherited ichthyosis
MONDO:0016520	isolated Klippel-Feil syndrome	MONDO:0001029	Klippel-Feil syndrome
MONDO:0016462	isolated agammaglobulinemia	MONDO:0015977	agammaglobulinemia

See full table here