Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the parathyroid physiology (HP:0011767)

Parent Node:
Hyperparathyroidism (HP:0000843)

..Starting node
..Primary hyperparathyroidism (HP:0008200)

Term ID:

8200

Name:

Primary hyperparathyroidism

Synonym:

Definition:

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.

Comments:

Reference:

HP:0008200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Secondary hyperparathyroidism (HP:0000867)

Tertiary hyperparathyroidism (HP:0011770)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	.	51
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	462
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0008200	HP:0008200	Primary hyperparathyroidism	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent	7

Genes (13) :AP2S1 ARMC5 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GCM2 GNA11 GNAS MEN1 YY1

Diseases (12) :OMIM:600740 ORPHA:189427 OMIM:239200 ORPHA:99879 OMIM:145000 ORPHA:99880 ORPHA:143 ORPHA:652 OMIM:610755 OMIM:617343 OMIM:145981 ORPHA:97279

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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