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
..Increased circulating free T4 concentration (HP:0033077)

Term ID:

33077

Name:

Increased circulating free T4 concentration

Synonym:

Increased circulating free T4 level

Definition:

An elevated concentration of free thyroxine (fT4) in the blood circulation.

Comments:

Reference:

HP:0033077

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033077	HP:0033077	Increased circulating free T4 concentration	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	10
HP:0033077	HP:0033077	Increased circulating free T4 concentration	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	3
HP:0033077	HP:0033077	Increased circulating free T4 concentration	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	161
HP:0033077	HP:0033077	Increased circulating free T4 concentration	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	161

Genes (3) :KCNJ18 SECISBP2 THRB

Diseases (4) :OMIM:613239 OMIM:609698 OMIM:188570 OMIM:274300

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