Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Hyperparathyroidism 1
Synonyms	Parathyroid Adenoma, Familial Hyperparathyroidism, Familial Isolated Primary
ID	http://purl.bioontology.org/ontology/MESH/C564166
altLabel	Parathyroid Adenoma, Familial Hyperparathyroidism, Familial Isolated Primary
cui	C1840402 C4551961 C1840403
HM	D049950
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D049950
MDA	20120824
MeSH Frequency	16
MMR	20210809
notation	C564166
prefLabel	Hyperparathyroidism 1
SC	3
Scope Statement	also known as HRPT1; associated with mutations in gene HRPT2 which codes for parafibromin
TERMUI	T804327 T804324 T804326
TH	OMIM (2013) ORD (2014) OMIM (2014) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/607393	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/786037006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/145000	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/145000	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10080773	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/613733	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10080773	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10080773	MDRGER	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725385	PDQ	CUI
http://purl.bioontology.org/ontology/SCTSPA/786037006	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/145000	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0007767	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007767	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007767	DOVES	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564166	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/145000	OMIM	LOOM