Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0016365 http://purl.obolibrary.org/obo/MONDO_0016365
Preferred Name	familial primary hyperparathyroidism
Definitions	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.
Synonyms	hereditary primary hyperparathyroidism (disease)
Type	http://www.w3.org/2002/07/owl#Class

definition	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.
label	familial primary hyperparathyroidism
prefLabel	familial primary hyperparathyroidism
database_cross_reference	UMLS:C0271846 Orphanet:2207 GARD:2837 icd11.foundation:1186866066 MEDGEN:543605
notation	MONDO:0016365
in_subset	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
id	MONDO:0016365
skos_exactMatch	http://identifiers.org/medgen/543605 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1186866066 http://linkedlifedata.com/resource/umls/id/C0271846 http://purl.obolibrary.org/obo/Orphanet_2207
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016166 http://purl.obolibrary.org/obo/MONDO_0021360 http://purl.obolibrary.org/obo/MONDO_0010837
terms_conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	hereditary primary hyperparathyroidism (disease)
treeView	http://purl.obolibrary.org/obo/MONDO_0016166 http://purl.obolibrary.org/obo/MONDO_0021360 http://purl.obolibrary.org/obo/MONDO_0010837

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