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
..Positive perchlorate discharge test (HP:0025482)

Term ID:

25482

Name:

Positive perchlorate discharge test

Synonym:

Definition:

An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.

Comments:

Reference:

HP:0025482

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)

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

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:0025482	HP:0025482	Positive perchlorate discharge test	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0025482	HP:0025482	Positive perchlorate discharge test	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0025482	HP:0025482	Positive perchlorate discharge test	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0025482	HP:0025482	Positive perchlorate discharge test	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0025482	HP:0025482	Positive perchlorate discharge test	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0025482	HP:0025482	Positive perchlorate discharge test	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92

Genes (6) :DUOX2 DUOXA2 IYD SLC5A5 TG TPO

Diseases (1) :ORPHA:95716

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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