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

Term ID:

31425

Name:

Increased circulating beta-C-terminal telopeptide concentration

Synonym:

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

Definition:

A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.

Comments:

Reference:

HP:0031425

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0031425	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	47
HP:0031425	HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent	52

Genes (2) :SLC34A1 SLC34A3

Diseases (1) :ORPHA:157215

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