Experimental Factor Ontology

Last uploaded: October 15, 2024

Preferred Name	partial deletion of chromosome 17
Synonyms	partial deletion of chromosome type 17 partial monosomy of chromosome 17
ID	http://purl.obolibrary.org/obo/MONDO_0016879
database_cross_reference	UMLS:C5679661 Orphanet:261831 MEDGEN:1825963 GARD:20802
has_exact_synonym	partial deletion of chromosome type 17 partial monosomy of chromosome 17
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/3664
id	MONDO:0016879
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping
label	partial deletion of chromosome 17
notation	MONDO:0016879
preferred label	partial deletion of chromosome 17
prefLabel	partial deletion of chromosome 17
skos_exactMatch	http://identifiers.org/medgen/1825963 http://purl.obolibrary.org/obo/Orphanet_261831 http://linkedlifedata.com/resource/umls/id/C5679661
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020583 http://purl.obolibrary.org/obo/MONDO_0000761

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016879	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016879	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016879	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016879	KTAO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_261831	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19936	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016879	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0016879	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016879	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0016879	KTAO	LOOM