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:
Abnormality of the thyroid gland (HP:0000820)

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

..Starting node
..Thyroid defect in oxidation and organification of iodide (HP:0008263)

Term ID:

8263

Name:

Thyroid defect in oxidation and organification of iodide

Synonym:

Definition:

Comments:

Reference:

HP:0008263

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating thyroid hormone concentration (HP:0031508)

Abnormal radioactive iodine uptake test result (HP:0031221)

Euthyroid hyperthyroxinemia (HP:0008247)

Hyperthyroidism (HP:0000836)

Hypothyroidism (HP:0000821)

Impaired sensitivity to thyroid hormone (HP:0002930)

Impaired sensitivity to thyroid stimulating hormone (HP:0011789)

Positive perchlorate discharge test (HP:0025482)

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:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0008263	HP:0008263	Thyroid defect in oxidation and organification of iodide	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A	.	92

Genes (6) :DUOX2 DUOXA2 IYD SLC5A5 TG TPO

Diseases (3) :ORPHA:95716 ORPHA:226316 OMIM:274500

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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