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 vitamin metabolism (HP:0100508)

Parent Node:
Abnormality of vitamin D metabolism (HP:0100511)

..Starting node
..High serum calcitriol (HP:0031415)

Term ID:

31415

Name:

High serum calcitriol

Synonym:

High serum 1,25-dihydroxycholecalciferol; High serum 1,25-dihydroxyvitamin D3; Increased serum 1,25-dihydroxyvitamin D3; Increased serum calcitriol

Definition:

An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.

Comments:

Reference:

HP:0031415

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating calcifediol concentration (HP:0012053)

High serum calcifediol (HP:0031414)

Low levels of vitamin D (HP:0100512)

Low serum calcitriol (HP:0012052)

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:0031415	HP:0031415	High serum calcitriol	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0031415	HP:0031415	High serum calcitriol	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0031415	HP:0031415	High serum calcitriol	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0031415	HP:0031415	High serum calcitriol	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0031415	HP:0031415	High serum calcitriol	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52
HP:0031415	HP:0031415	High serum calcitriol	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0031415	HP:0031415	High serum calcitriol	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104

Genes (5) :CLCN5 KL SLC34A1 SLC34A3 VDR

Diseases (6) :OMIM:300009 OMIM:300554 OMIM:617994 ORPHA:157215 OMIM:241530 OMIM:277440

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