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:
obsolete Abnormal concentration of calcium in blood (HP:0040077)

Parent Node:
Hypercalcemia (HP:0003072)

..Starting node
..Infantile hypercalcemia (HP:0008250)

Term ID:

8250

Name:

Infantile hypercalcemia

Synonym:

Definition:

Comments:

Reference:

HP:0008250

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008250	HP:0008250	Infantile hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0008250	HP:0008250	Infantile hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0008250	HP:0008250	Infantile hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0008250	HP:0008250	Infantile hypercalcemia	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0008250	HP:0008250	Infantile hypercalcemia	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0008250	HP:0008250	Infantile hypercalcemia	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462

Genes (4) :CDC73 CYP24A1 GCM2 MEN1

Diseases (4) :ORPHA:99879 ORPHA:99880 ORPHA:143 OMIM:143880

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