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

..Starting node
..Decreased circulating free T3 (HP:0032210)

Term ID:

32210

Name:

Decreased circulating free T3

Synonym:

Decreased circulating free triiodothyronine

Definition:

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

Comments:

Reference:

HP:0032210

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032210	HP:0032210	Decreased circulating free T3	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0032210	HP:0032210	Decreased circulating free T3	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0032210	HP:0032210	Decreased circulating free T3	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0032210	HP:0032210	Decreased circulating free T3	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0032210	HP:0032210	Decreased circulating free T3	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2

Genes (4) :MADD POU1F1 SECISBP2 TRHR

Diseases (5) :OMIM:619004 OMIM:613038 ORPHA:171706 OMIM:609698 ORPHA:99832

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