Mondo Disease Ontology - Olmsted syndrome - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: May 9, 2024

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Preferred Name	Olmsted syndrome
Synonyms	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques palmoplantar and periorificial keratoderma
Definitions	A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
ID	http://purl.obolibrary.org/obo/MONDO_0031421
closeMatch	http://identifiers.org/meddra/10068842
creator	https://orcid.org/0000-0001-5208-3432
database_cross_reference	Orphanet:659 UMLS:C0406761 DOID:0112011 GARD:4075 OMIMPS:614594 MedDRA:10068842
definition	A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
exactMatch	http://purl.obolibrary.org/obo/DOID_0112011 http://linkedlifedata.com/resource/umls/id/C0406761 http://purl.obolibrary.org/obo/Orphanet_659 https://omim.org/phenotypicSeries/PS614594
has_exact_synonym	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques palmoplantar and periorificial keratoderma
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6749
id	MONDO:0031421
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	Olmsted syndrome
notation	MONDO:0031421
prefLabel	Olmsted syndrome
treeView	http://purl.obolibrary.org/obo/MONDO_0019272
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019272

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0031421	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0031421	DOVES	SAME_URI
	http://www.owl-ontologies.com/unnamed.owl#RID15424	DERMLEX	LOOM
	http://purl.bioontology.org/ontology/MEDDRA/10068842	MEDDRA	LOOM
	http://purl.obolibrary.org/obo/OMIM_614594	CCO	LOOM
	http://identifiers.org/omim/614594	REXO	LOOM
	http://identifiers.org/omim/614594	GEXO	LOOM
	http://identifiers.org/omim/614594	RETO	LOOM
	http://www.gamuts.net/entity#Olmsted_syndrome	GAMUTS	LOOM
	http://purl.obolibrary.org/obo/MONDO_0031421	EFO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0031421	DOVES	LOOM