Human Phenotype Ontology

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:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone 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:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone 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:0031508	HP:0031508	Abnormal circulating thyroid hormone 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:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone 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:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone 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:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0031508	HP:0031508	Abnormal circulating thyroid hormone concentration	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031508	HP:0034289	Elevated circulating rT3/T3 ratio	1	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0031508	HP:0034288	Elevated circulating reverse T3 concentration	1	DIO1 CL E G H	1733	2883	OMIM:619855
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0031508	HP:0031505	Abnormal 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		21
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031508	HP:0031505	Abnormal 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		51
HP:0031508	HP:0031505	Abnormal 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		43
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0031508	HP:0031505	Abnormal 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:0031508	HP:0031505	Abnormal 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:0031508	HP:0031505	Abnormal 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:0031508	HP:0031505	Abnormal circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031508	HP:0031505	Abnormal 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		36
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031508	HP:0031505	Abnormal 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		54
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031508	HP:0031505	Abnormal 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:0031508	HP:0031505	Abnormal circulating T4 concentration	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0031508	HP:0012558	Abnormal T3/T4 ratio	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3		155
HP:0031508	HP:0012558	Abnormal T3/T4 ratio	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031508	HP:0033076	Abnormal circulating free T4 concentration	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0031508	HP:0032209	Abnormal circulating free T3 concentration	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031508	HP:0031505	Abnormal circulating T4 concentration	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0031508	HP:0012560	Decreased T3/T4 ratio	2	CL E G H
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0031508	HP:0033078	Decreased circulating free T4 concentration	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	121
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	11
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0033078	Decreased circulating free T4 concentration	2	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	130
HP:0031508	HP:0031506	Increased circulating T4 concentration	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031508	HP:0033077	Increased circulating free T4 concentration	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0032210	Decreased circulating free T3	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031508	HP:0033078	Decreased circulating free T4 concentration	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0033078	Decreased circulating free T4 concentration	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031508	HP:0032210	Decreased circulating free T3	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0032210	Decreased circulating free T3	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031508	HP:0031506	Increased circulating T4 concentration	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031508	HP:0033077	Increased circulating free T4 concentration	2	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0032210	Decreased circulating free T3	2	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0031506	Increased circulating T4 concentration	2	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	59
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0031507	Decreased circulating T4 concentration	2	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:0031508	HP:0033078	Decreased circulating free T4 concentration	2	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	155
HP:0031508	HP:0012559	Increased T3/T4 ratio	2	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0031508	HP:0012559	Increased T3/T4 ratio	2	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6		9
HP:0031508	HP:0011788	Increased circulating free T3	2	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.	161
HP:0031508	HP:0033077	Increased circulating free T4 concentration	2	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0031508	HP:0031506	Increased circulating T4 concentration	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031508	HP:0033077	Increased circulating free T4 concentration	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	92
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TRHR CL E G H	7201	12299	OMIM:618573	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7		2
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0031508	HP:0032210	Decreased circulating free T3	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0031508	HP:0031506	Increased circulating T4 concentration	2	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031508	HP:0031507	Decreased circulating T4 concentration	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97