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 calcifediol (HP:0031414)

Term ID:

31414

Name:

High serum calcifediol

Synonym:

High serum 25-hydroxycholecalciferol; High serum calcidiol

Definition:

An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.

Comments:

Reference:

HP:0031414

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating calcifediol concentration (HP:0012053)

High serum calcitriol (HP:0031415)

Low levels of vitamin D (HP:0100512)

Low serum calcitriol (HP:0012052)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031414	HP:0031414	High serum calcifediol	0	CL E G H

Genes (0) :

Diseases (0) :

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