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 morphology (HP:0011766)

Grandparent Node:
Neoplasm of the endocrine system (HP:0100568)

Parent Node:
Neoplasm of the parathyroid gland (HP:0100733)

..Starting node
..Parathyroid adenoma (HP:0002897)

Term ID:

2897

Name:

Parathyroid adenoma

Synonym:

Parathyroid adenomas

Definition:

A benign tumor of the parathyroid gland that can cause hyperparathyroidism.

Comments:

Reference:

HP:0002897

Genes and Diseases:

Child Nodes:

Sister Nodes:

Parathyroid carcinoma (HP:0006780)

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:0002897	HP:0002897	Parathyroid adenoma	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0002897	HP:0002897	Parathyroid adenoma	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0002897	HP:0002897	Parathyroid adenoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0002897	HP:0002897	Parathyroid adenoma	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0002897	HP:0002897	Parathyroid adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0002897	HP:0002897	Parathyroid adenoma	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0002897	HP:0002897	Parathyroid adenoma	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0002897	HP:0002897	Parathyroid adenoma	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040283 - Occasional	332
HP:0002897	HP:0002897	Parathyroid adenoma	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0002897	HP:0002897	Parathyroid adenoma	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0002897	HP:0002897	Parathyroid adenoma	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0002897	HP:0002897	Parathyroid adenoma	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0002897	HP:0002897	Parathyroid adenoma	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0002897	HP:0002897	Parathyroid adenoma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0002897	HP:0002897	Parathyroid adenoma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0002897	HP:0002897	Parathyroid adenoma	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0002897	HP:0002897	Parathyroid adenoma	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0002897	HP:0002897	Parathyroid adenoma	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0002897	HP:0002897	Parathyroid adenoma	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738

Genes (15) :CASR CDC73 CDKN1B CLCNKB FLCN GCM2 IDH1 IDH2 IFNG MEN1 NF1 RET SLC12A3 TSC1 TSC2

Diseases (13) :OMIM:145980 ORPHA:99879 OMIM:145001 ORPHA:99880 ORPHA:276152 OMIM:610755 ORPHA:358 ORPHA:122 ORPHA:163634 ORPHA:805 OMIM:131100 OMIM:162200 OMIM:171400

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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