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 carcinoma (HP:0006780)

Term ID:

6780

Name:

Parathyroid carcinoma

Synonym:

Parathyroid Cancer

Definition:

A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.

Comments:

Reference:

HP:0006780

Genes and Diseases:

Child Nodes:

Sister Nodes:

Parathyroid adenoma (HP:0002897)

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:0006780	HP:0006780	Parathyroid carcinoma	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0006780	HP:0006780	Parathyroid carcinoma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0006780	HP:0006780	Parathyroid carcinoma	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	HP:0040283 - Occasional	51
HP:0006780	HP:0006780	Parathyroid carcinoma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462

Genes (7) :CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GCM2 MEN1

Diseases (6) :OMIM:145001 ORPHA:143 OMIM:608266 ORPHA:652 ORPHA:276152 OMIM:617343

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