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 thyroglobulin level (HP:0025483)

..Starting node
..Increased circulating thyroglobulin level (HP:0025484)

Term ID:

25484

Name:

Increased circulating thyroglobulin level

Synonym:

Definition:

An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.

Comments:

Reference:

HP:0025484

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:0025484	HP:0025484	Increased circulating thyroglobulin level	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0025484	HP:0025484	Increased circulating thyroglobulin level	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97

Genes (8) :DUOX2 FOXI1 KCNJ10 PAX8 SLC26A4 SLC35A2 THRB TSHR

Diseases (6) :ORPHA:226316 OMIM:274600 OMIM:218700 ORPHA:356961 OMIM:188570 ORPHA:90673

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