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 hormone concentration (HP:0003117)

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

Parent Node:
Abnormal circulating thyroid hormone concentration (HP:0031508)

..Starting node
..Abnormal circulating T4 concentration (HP:0031505)

Term ID:

31505

Name:

Abnormal circulating T4 concentration

Synonym:

Abnormal circulating T4 level; Abnormal circulating thyroxine level

Definition:

A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).

Comments:

Reference:

HP:0031505

Genes and Diseases:

Child Nodes:

........

Increased circulating thyroxine level (HP:0031506)

........

Decreased circulating thyroxine level (HP:0031507)

Sister Nodes:

Abnormal T3/T4 ratio (HP:0012558)

Increased circulating free T3 (HP:0011788)

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:0031505	HP:0031505	Abnormal circulating T4 concentration	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031505	HP:0031505	Abnormal circulating T4 concentration	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	121
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	11
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	130
HP:0031505	HP:0031506	Increased circulating T4 concentration	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0031505	HP:0031506	Increased circulating T4 concentration	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031505	HP:0031506	Increased circulating T4 concentration	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	59
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	155
HP:0031505	HP:0031506	Increased circulating T4 concentration	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	92
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0031505	HP:0031506	Increased circulating T4 concentration	1	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031505	HP:0031507	Decreased circulating T4 concentration	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97

Genes (24) :ALG8 ALMS1 DUOX2 DUOXA2 HESX1 IYD KCNJ18 LHX3 LHX4 MAGEL2 NDN OCA2 PAX8 POU1F1 PROP1 SECISBP2 SLC5A5 SNRPN TG THRB TPO TRHR TSHB TSHR

Diseases (19) :OMIM:608104 ORPHA:64 ORPHA:95716 ORPHA:226316 ORPHA:226307 OMIM:613239 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:218700 ORPHA:171706 OMIM:609698 OMIM:274300 OMIM:274500 OMIM:618573 ORPHA:99832 ORPHA:90674 OMIM:603373 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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