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
..Decreased circulating calcifediol concentration (HP:0012053)

Term ID:

12053

Name:

Decreased circulating calcifediol concentration

Synonym:

Decreased 25-hydroxyvitamin D3; Low serum 25-hydroxycholecalciferol; Low serum calcidiol; Low serum calcifediol

Definition:

A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.

Comments:

Reference:

HP:0012053

Genes and Diseases:

Child Nodes:

Sister Nodes:

High serum calcifediol (HP:0031414)

High serum calcitriol (HP:0031415)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012053	HP:0012053	Decreased circulating calcifediol concentration	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3	2

Genes (1) :CYP3A4

Diseases (1) :OMIM:619073

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