Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Low serum calcitriol (HP:0012052)

Term ID:

12052

Name:

Low serum calcitriol

Synonym:

Low serum 1,25-dihydroxycholecalciferol; Low serum 1,25-dihydroxyvitamin D3

Definition:

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

Comments:

Reference:

HP:0012052

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating calcifediol concentration (HP:0012053)

High serum calcifediol (HP:0031414)

High serum calcitriol (HP:0031415)

Low levels of vitamin D (HP:0100512)

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:0012052	HP:0012052	Low serum calcitriol	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	41
HP:0012052	HP:0012052	Low serum calcitriol	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate	5
HP:0012052	HP:0012052	Low serum calcitriol	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0012052	HP:0012052	Low serum calcitriol	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0012052	HP:0012052	Low serum calcitriol	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0012052	HP:0012052	Low serum calcitriol	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125

Genes (6) :CYP27B1 CYP2R1 CYP3A4 DMP1 ENPP1 LRP5

Diseases (4) :ORPHA:289157 OMIM:619073 ORPHA:289176 ORPHA:2788

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