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 thyroid hormone concentration (HP:0031508)

Parent Node:
Abnormal circulating T4 concentration (HP:0031505)

..Starting node
..Increased circulating T4 concentration (HP:0031506)

Term ID:

31506

Name:

Increased circulating T4 concentration

Synonym:

Increased circulating T4 level; Increased circulating thyroxine level

Definition:

An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).

Comments:

Reference:

HP:0031506

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating T4 concentration (HP:0031507)

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:0031506	HP:0031506	Increased circulating T4 concentration	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	10
HP:0031506	HP:0031506	Increased circulating T4 concentration	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	3
HP:0031506	HP:0031506	Increased circulating T4 concentration	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	3
HP:0031506	HP:0031506	Increased circulating T4 concentration	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	161
HP:0031506	HP:0031506	Increased circulating T4 concentration	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	97

Genes (4) :KCNJ18 SECISBP2 THRB TSHR

Diseases (5) :OMIM:613239 ORPHA:171706 OMIM:609698 OMIM:274300 OMIM:603373

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

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