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:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormal circulating beta-C-terminal telopeptide concentration (HP:0031424)

..Starting node
..Decreased circulating beta-C-terminal telopeptide concentration (HP:0031426)

Term ID:

31426

Name:

Decreased circulating beta-C-terminal telopeptide concentration

Synonym:

Decreased circulating beta-C-terminal telopeptide level; Decreased circulating beta-CrossLaps level; Decreased circulating beta-CTx level

Definition:

A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.

Comments:

Reference:

HP:0031426

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating beta-C-terminal telopeptide concentration (HP:0031425)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031426	HP:0031426	Decreased circulating beta-C-terminal telopeptide concentration	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.