Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0016151 http://purl.obolibrary.org/obo/MONDO_0016151
Preferred Name	qualitative or quantitative defects of perlecan
Synonyms
Type	http://www.w3.org/2002/07/owl#Class

label	qualitative or quantitative defects of perlecan
prefLabel	qualitative or quantitative defects of perlecan
database_cross_reference	Orphanet:207101 GARD:20398 MEDGEN:1842752 UMLS:C5680831
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5114
notation	MONDO:0016151
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
id	MONDO:0016151
skos_exactMatch	http://purl.obolibrary.org/obo/Orphanet_207101 http://identifiers.org/medgen/1842752 http://linkedlifedata.com/resource/umls/id/C5680831
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016139 http://purl.obolibrary.org/obo/MONDO_0100545
type	http://www.w3.org/2002/07/owl#Class
treeView	http://purl.obolibrary.org/obo/MONDO_0016139 http://purl.obolibrary.org/obo/MONDO_0100545

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