Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 thyroid physiology (HP:0002926)

Parent Node:
Abnormal radioactive iodine uptake test result (HP:0031221)

..Starting node
..Reduced radioactive iodine uptake (HP:0031219)

Term ID:

31219

Name:

Reduced radioactive iodine uptake

Synonym:

Definition:

A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.

Comments:

Reference:

HP:0031219

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased radioactive iodine uptake (HP:0031220)

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:0031219	HP:0031219	Reduced radioactive iodine uptake	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	21
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	51
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	43
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	36
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	54
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0031219	HP:0031219	Reduced radioactive iodine uptake	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97

Genes (14) :DUOX2 DUOXA2 HESX1 IYD LHX3 LHX4 POU1F1 PROP1 SLC5A5 TG TPO TRHR TSHB TSHR

Diseases (5) :ORPHA:95716 ORPHA:226307 ORPHA:99832 ORPHA:90674 ORPHA:90673

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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