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
..Secondary hyperparathyroidism (HP:0000867)

Term ID:

867

Name:

Secondary hyperparathyroidism

Synonym:

Definition:

Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.

Comments:

Reference:

HP:0000867

Genes and Diseases:

Child Nodes:

Sister Nodes:

Primary hyperparathyroidism (HP:0008200)

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:0000867	HP:0000867	Secondary hyperparathyroidism	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000867	HP:0000867	Secondary hyperparathyroidism	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0000867	HP:0000867	Secondary hyperparathyroidism	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000867	HP:0000867	Secondary hyperparathyroidism	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0000867	HP:0000867	Secondary hyperparathyroidism	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (4) :CA2 CYP27B1 CYP2R1 VDR

Diseases (4) :ORPHA:2785 ORPHA:289157 OMIM:264700 OMIM:277440

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