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 modifier some syndromic

Data preview¶

defined_class	defined_class_label	disease	disease_label
MONDO:0015150	complex hereditary spastic paraplegia	MONDO:0019064	hereditary spastic paraplegia
MONDO:0017263	inherited ichthyosis syndromic form	MONDO:0015947	inherited ichthyosis
MONDO:0016463	syndromic agammaglobulinemia	MONDO:0015977	agammaglobulinemia
MONDO:0020148	syndromic aniridia	MONDO:0019172	aniridia
MONDO:0015246	syndromic anorectal malformation	MONDO:0019938	anorectal malformation

See full table here