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 hormone concentration (HP:0003117)

Grandparent Node:
Abnormality of thyroid physiology (HP:0002926)

Parent Node:
Abnormal circulating thyroid hormone concentration (HP:0031508)

..Starting node
..Increased circulating free T3 (HP:0011788)

Term ID:

11788

Name:

Increased circulating free T3

Synonym:

Increased circulating free triiodothyronine; Increased serum free T3; Increased serum free triiodothyronine; Increased serum fT3

Definition:

An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.

Comments:

Reference:

HP:0011788

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating T4 concentration (HP:0031505)

Abnormal T3/T4 ratio (HP:0012558)

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:0011788	HP:0011788	Increased circulating free T3	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.	161

Genes (1) :THRB

Diseases (1) :OMIM:188570

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