Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000821	HP:0000821	Hypothyroidism	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0000821	Hypothyroidism	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0000821	Hypothyroidism	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0000821	Hypothyroidism	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0000821	Hypothyroidism	0	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0000821	Hypothyroidism	0	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0000821	Hypothyroidism	0	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0000821	Hypothyroidism	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0000821	Hypothyroidism	0	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0000821	Hypothyroidism	0	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0000821	Hypothyroidism	0	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0000821	Hypothyroidism	0	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0000821	Hypothyroidism	0	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0000821	Hypothyroidism	0	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0000821	Hypothyroidism	0	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0000821	Hypothyroidism	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0000821	Hypothyroidism	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0000821	Hypothyroidism	0	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0000821	Hypothyroidism	0	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0000821	Hypothyroidism	0	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0000821	Hypothyroidism	0	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0000821	Hypothyroidism	0	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0000821	Hypothyroidism	0	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0000821	Hypothyroidism	0	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0000821	Hypothyroidism	0	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0000821	Hypothyroidism	0	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0000821	Hypothyroidism	0	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0000821	Hypothyroidism	0	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0000821	Hypothyroidism	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0000821	Hypothyroidism	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0000821	Hypothyroidism	0	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0000821	Hypothyroidism	0	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0000821	Hypothyroidism	0	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0000821	Hypothyroidism	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0000821	Hypothyroidism	0	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0000821	Hypothyroidism	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0000821	Hypothyroidism	0	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0000821	Hypothyroidism	0	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0000821	Hypothyroidism	0	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0000821	Hypothyroidism	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0000821	Hypothyroidism	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0000821	Hypothyroidism	0	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0000821	Hypothyroidism	0	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0000821	Hypothyroidism	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0000821	Hypothyroidism	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0000821	Hypothyroidism	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000821	Hypothyroidism	0	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0000821	Hypothyroidism	0	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0000821	Hypothyroidism	0	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0000821	Hypothyroidism	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0000821	Hypothyroidism	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0000821	Hypothyroidism	0	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0000821	Hypothyroidism	0	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0000821	Hypothyroidism	0	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0000821	Hypothyroidism	0	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0000821	Hypothyroidism	0	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0000821	Hypothyroidism	0	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0000821	Hypothyroidism	0	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0000821	Hypothyroidism	0	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0000821	Hypothyroidism	0	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0000821	Hypothyroidism	0	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0000821	Hypothyroidism	0	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0000821	Hypothyroidism	0	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0000821	Hypothyroidism	0	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0011787	Central hypothyroidism	1	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0000832	Primary hypothyroidism	1	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0011787	Central hypothyroidism	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0000832	Primary hypothyroidism	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0000851	Congenital hypothyroidism	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0008223	Compensated hypothyroidism	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0011787	Central hypothyroidism	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0000832	Primary hypothyroidism	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0000832	Primary hypothyroidism	1	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0000832	Primary hypothyroidism	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0011787	Central hypothyroidism	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0011787	Central hypothyroidism	1	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0000832	Primary hypothyroidism	1	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0011787	Central hypothyroidism	1	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0000832	Primary hypothyroidism	1	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0000832	Primary hypothyroidism	1	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0011787	Central hypothyroidism	1	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0011787	Central hypothyroidism	1	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0000832	Primary hypothyroidism	1	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0000832	Primary hypothyroidism	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0011787	Central hypothyroidism	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0000851	Congenital hypothyroidism	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0008223	Compensated hypothyroidism	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0011787	Central hypothyroidism	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0000832	Primary hypothyroidism	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0011787	Central hypothyroidism	1	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0000832	Primary hypothyroidism	1	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0000832	Primary hypothyroidism	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0011787	Central hypothyroidism	1	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0000832	Primary hypothyroidism	1	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0000832	Primary hypothyroidism	1	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0000832	Primary hypothyroidism	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0011787	Central hypothyroidism	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0000832	Primary hypothyroidism	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0011787	Central hypothyroidism	1	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0000832	Primary hypothyroidism	1	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0011787	Central hypothyroidism	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0000832	Primary hypothyroidism	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0011787	Central hypothyroidism	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0000832	Primary hypothyroidism	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0011787	Central hypothyroidism	1	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0000832	Primary hypothyroidism	1	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0011787	Central hypothyroidism	1	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0000832	Primary hypothyroidism	1	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0011787	Central hypothyroidism	1	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0000832	Primary hypothyroidism	1	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0000832	Primary hypothyroidism	1	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0011787	Central hypothyroidism	1	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0011787	Central hypothyroidism	1	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0000832	Primary hypothyroidism	1	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0011787	Central hypothyroidism	1	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0000832	Primary hypothyroidism	1	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0011787	Central hypothyroidism	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0000832	Primary hypothyroidism	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0011787	Central hypothyroidism	1	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0000832	Primary hypothyroidism	1	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0008223	Compensated hypothyroidism	1	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0008223	Compensated hypothyroidism	1	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0011787	Central hypothyroidism	1	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0000832	Primary hypothyroidism	1	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0000832	Primary hypothyroidism	1	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0000832	Primary hypothyroidism	1	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0011787	Central hypothyroidism	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0000832	Primary hypothyroidism	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0011787	Central hypothyroidism	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0000832	Primary hypothyroidism	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0011787	Central hypothyroidism	1	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0000832	Primary hypothyroidism	1	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0011787	Central hypothyroidism	1	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0000832	Primary hypothyroidism	1	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0000832	Primary hypothyroidism	1	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0000832	Primary hypothyroidism	1	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0011787	Central hypothyroidism	1	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0011787	Central hypothyroidism	1	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0011787	Central hypothyroidism	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0000832	Primary hypothyroidism	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0011787	Central hypothyroidism	1	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0011787	Central hypothyroidism	1	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0000832	Primary hypothyroidism	1	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0000832	Primary hypothyroidism	1	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0011787	Central hypothyroidism	1	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0000832	Primary hypothyroidism	1	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0011787	Central hypothyroidism	1	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0000832	Primary hypothyroidism	1	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0000832	Primary hypothyroidism	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0011787	Central hypothyroidism	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0000832	Primary hypothyroidism	1	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0011787	Central hypothyroidism	1	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0011787	Central hypothyroidism	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0000832	Primary hypothyroidism	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0000851	Congenital hypothyroidism	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0008223	Compensated hypothyroidism	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0011787	Central hypothyroidism	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0000832	Primary hypothyroidism	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0011787	Central hypothyroidism	1	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0000832	Primary hypothyroidism	1	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0011787	Central hypothyroidism	1	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0000832	Primary hypothyroidism	1	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0011787	Central hypothyroidism	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0000832	Primary hypothyroidism	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0000832	Primary hypothyroidism	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0011787	Central hypothyroidism	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0011787	Central hypothyroidism	1	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0000832	Primary hypothyroidism	1	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0011787	Central hypothyroidism	1	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0000832	Primary hypothyroidism	1	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0011787	Central hypothyroidism	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0000832	Primary hypothyroidism	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0011787	Central hypothyroidism	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0000832	Primary hypothyroidism	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0011787	Central hypothyroidism	1	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0000832	Primary hypothyroidism	1	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0000832	Primary hypothyroidism	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0011787	Central hypothyroidism	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0011787	Central hypothyroidism	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0000832	Primary hypothyroidism	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0000832	Primary hypothyroidism	1	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0011787	Central hypothyroidism	1	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0011787	Central hypothyroidism	1	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0000832	Primary hypothyroidism	1	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0000851	Congenital hypothyroidism	1	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0008223	Compensated hypothyroidism	1	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0008223	Compensated hypothyroidism	1	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0011787	Central hypothyroidism	1	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0000832	Primary hypothyroidism	1	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0000851	Congenital hypothyroidism	1	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0011787	Central hypothyroidism	1	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0000832	Primary hypothyroidism	1	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0011787	Central hypothyroidism	1	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0000832	Primary hypothyroidism	1	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0011787	Central hypothyroidism	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0000832	Primary hypothyroidism	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0011787	Central hypothyroidism	1	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0011787	Central hypothyroidism	1	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0011787	Central hypothyroidism	1	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0011787	Central hypothyroidism	1	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0011787	Central hypothyroidism	1	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0011787	Central hypothyroidism	1	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0000832	Primary hypothyroidism	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0000851	Congenital hypothyroidism	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0008223	Compensated hypothyroidism	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0011787	Central hypothyroidism	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0000851	Congenital hypothyroidism	1	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0008223	Compensated hypothyroidism	1	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0011787	Central hypothyroidism	1	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0000832	Primary hypothyroidism	1	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0008223	Compensated hypothyroidism	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0011787	Central hypothyroidism	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0000832	Primary hypothyroidism	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0000851	Congenital hypothyroidism	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0011787	Central hypothyroidism	1	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0000832	Primary hypothyroidism	1	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0000851	Congenital hypothyroidism	1	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0008223	Compensated hypothyroidism	1	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	295	124	171640
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	758	391	164730
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	428	606844
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CDON CL E G H	50937	95496				ORPHA	1	652	17104	608707
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DCAF17 CL E G H	80067	3464				ORPHA	1	366	25784	612515
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DNAH1 CL E G H	25981	617577	Ciliary dyskinesia, primary, 37	617577	C4539798	OMIM	1	1769	2940	603332
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DUOX2 CL E G H	50506	95716				ORPHA	1	1203	13273	606759
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DUOXA2 CL E G H	405753	95716				ORPHA	1	94	32698	612772
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	277	17097	602238
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	1506	25568	611360
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FMR1 CL E G H	2332	300623	Fragile X tremor/ataxia syndrome	300623	C1839780	OMIM	1	371	3775	309550
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FOXE1 CL E G H	2304	95713				ORPHA	1	90	3806	602617
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FOXI1 CL E G H	2299	705				ORPHA	1	153	3815	601093
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	4006	612280
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	413	4170	305371
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	644	4392	139320
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	644	4392	139320
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GNE CL E G H	10020	602	GNE myopathy		CN924915	ORPHA	1	947	23657	603824
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GPR161 CL E G H	23432	95496				ORPHA	1	64	23694	612250
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HESX1 CL E G H	8820	95496				ORPHA	1	112	4877	601802
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HSD17B3 CL E G H	3293	264300	Testosterone 17-beta-dehydrogenase deficiency	264300	C0268296	OMIM	1	175	5212	605573
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IGSF1 CL E G H	3547	300888	Hypothyroidism, central, and testicular enlargement	300888	C3550963	OMIM	1	315	5948	300137
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IYD CL E G H	389434	95716				ORPHA	1	88	21071	612025
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	KAT6B CL E G H	23522	3047				ORPHA	1	1003	17582	605880
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	KCNJ10 CL E G H	3766	705				ORPHA	1	381	6256	602208
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LHX4 CL E G H	89884	95496				ORPHA	1	172	21734	602146
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX4 CL E G H	89884	262700	Pituitary hormone deficiency, combined 4	262700	C2678408	OMIM	1	172	21734	602146
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MCM8 CL E G H	84515	612885	Premature ovarian failure 10	612885	C2752067	OMIM	1	93	16147	608187
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NKX2-1 CL E G H	7080	95713				ORPHA	1	317	11825	600635
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NKX2-5 CL E G H	1482	95713				ORPHA	1	543	2488	600584
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NKX2-5 CL E G H	1482	95712				ORPHA	1	543	2488	600584
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PAX8 CL E G H	7849	95713				ORPHA	1	216	8622	167415
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PAX8 CL E G H	7849	95712				ORPHA	1	216	8622	167415
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PAX8 CL E G H	7849	95720				ORPHA	1	216	8622	167415
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	1433	28993	611184
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	1159	8975	171834
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PLVAP CL E G H	83483	618183	DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE	618183		OMIM	1	148	13635	607647
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PROKR2 CL E G H	128674	95496				ORPHA	1	160	15836	607123
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PROP1 CL E G H	5626	262600	Pituitary hormone deficiency, combined 2	262600	C0878683	OMIM	1	261	9455	601538
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	3012	9588	601728
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ROBO1 CL E G H	6091	95496				ORPHA	1	359	10249	602430
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	441	10524	602218
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC26A4 CL E G H	5172	705				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC26A4 CL E G H	5172	95720				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC26A4 CL E G H	5172	95713				ORPHA	1	1222	8818	605646
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC5A5 CL E G H	6528	95716				ORPHA	1	177	11040	601843
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SOX3 CL E G H	6658	300123	Mental retardation with panhypopituitarism, X-linked	300123	C2678223	OMIM	1	264	11199	313430
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	1169	11592	602054
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TG CL E G H	7038	95716				ORPHA	1	722	11764	188450
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	THRA CL E G H	7067	97927				ORPHA	1	62	11796	190120
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	THRB CL E G H	7068	97927				ORPHA	1	348	11799	190160
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TPO CL E G H	7173	95716				ORPHA	1	348	12015	606765
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TPO CL E G H	7173	274500	Deficiency of iodide peroxidase	274500	C1291299	OMIM	1	348	12015	606765
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSHB CL E G H	7252	90674				ORPHA	1	35	12372	188540
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSHR CL E G H	7253	90673				ORPHA	1	249	12373	603372
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSHR CL E G H	7253	95720				ORPHA	1	249	12373	603372
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSHR CL E G H	7253	95713				ORPHA	1	249	12373	603372
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	WDR11 CL E G H	55717	95496				ORPHA	1	369	13831	606417
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	XRCC4 CL E G H	7518	616541	Short stature, microcephaly, and endocrine dysfunction	616541	C4225288	OMIM	1	129	12831	194363
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000821	HP:0000821	Hypothyroidism	0	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0000821	Hypothyroidism	0	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0000821	Hypothyroidism	0	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0000821	Hypothyroidism	0	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0000821	Hypothyroidism	0	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0000821	Hypothyroidism	0	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0000821	Hypothyroidism	0	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0000821	Hypothyroidism	0	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0000821	Hypothyroidism	0	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0000821	Hypothyroidism	0	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0000821	Hypothyroidism	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0000821	Hypothyroidism	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0000821	Hypothyroidism	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0000821	Hypothyroidism	0	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0000821	Hypothyroidism	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0000821	Hypothyroidism	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0000821	Hypothyroidism	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0000821	Hypothyroidism	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0000821	Hypothyroidism	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0000821	Hypothyroidism	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0000821	Hypothyroidism	0	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0000821	Hypothyroidism	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0000821	Hypothyroidism	0	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0000821	Hypothyroidism	0	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0000821	Hypothyroidism	0	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0000821	Hypothyroidism	0	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0000821	Hypothyroidism	0	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0000821	Hypothyroidism	0	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0000821	Hypothyroidism	0	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0000821	Hypothyroidism	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0000821	Hypothyroidism	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0000821	Hypothyroidism	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0000821	Hypothyroidism	0	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0000821	Hypothyroidism	0	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0000821	Hypothyroidism	0	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0000821	Hypothyroidism	0	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0000821	Hypothyroidism	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0000821	Hypothyroidism	0	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0000821	Hypothyroidism	0	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0000821	Hypothyroidism	0	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0000821	Hypothyroidism	0	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0000821	Hypothyroidism	0	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0000821	Hypothyroidism	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0000821	Hypothyroidism	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0000821	Hypothyroidism	0	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0000821	Hypothyroidism	0	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0000821	Hypothyroidism	0	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0000821	Hypothyroidism	0	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0000821	Hypothyroidism	0	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0000821	Hypothyroidism	0	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0000821	Hypothyroidism	0	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0000821	Hypothyroidism	0	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0000821	Hypothyroidism	0	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0000821	Hypothyroidism	0	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0000821	Hypothyroidism	0	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0000821	Hypothyroidism	0	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0000821	Hypothyroidism	0	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0000821	Hypothyroidism	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0000821	Hypothyroidism	0	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0000821	Hypothyroidism	0	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0000821	Hypothyroidism	0	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0000821	Hypothyroidism	0	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0000821	Hypothyroidism	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0000821	Hypothyroidism	0	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0000821	Hypothyroidism	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0000821	Hypothyroidism	0	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0000821	Hypothyroidism	0	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0000821	Hypothyroidism	0	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0000821	Hypothyroidism	0	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0000821	Hypothyroidism	0	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0000821	Hypothyroidism	0	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0000821	Hypothyroidism	0	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0000821	Hypothyroidism	0	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0000821	Hypothyroidism	0	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0000821	Hypothyroidism	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0000821	Hypothyroidism	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0000821	Hypothyroidism	0	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0000821	Hypothyroidism	0	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0000821	Hypothyroidism	0	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0000821	Hypothyroidism	0	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0000821	Hypothyroidism	0	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0000821	Hypothyroidism	0	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0000821	Hypothyroidism	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0000821	Hypothyroidism	0	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0000821	Hypothyroidism	0	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0000821	Hypothyroidism	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0000821	Hypothyroidism	0	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0000821	Hypothyroidism	0	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0000821	Hypothyroidism	0	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0000821	Hypothyroidism	0	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0000821	Hypothyroidism	0	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0000821	Hypothyroidism	0	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0000821	Hypothyroidism	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0000821	Hypothyroidism	0	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0000821	Hypothyroidism	0	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0000821	Hypothyroidism	0	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0000821	Hypothyroidism	0	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0000821	Hypothyroidism	0	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0000821	Hypothyroidism	0	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0000821	Hypothyroidism	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0000821	Hypothyroidism	0	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0000821	Hypothyroidism	0	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0000821	Hypothyroidism	0	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0000821	Hypothyroidism	0	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0000821	Hypothyroidism	0	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0000821	Hypothyroidism	0	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0000821	Hypothyroidism	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0000821	Hypothyroidism	0	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0000821	Hypothyroidism	0	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0000821	Hypothyroidism	0	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0011787	Central hypothyroidism	1	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0000832	Primary hypothyroidism	1	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0011787	Central hypothyroidism	1	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0000832	Primary hypothyroidism	1	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0011787	Central hypothyroidism	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0000832	Primary hypothyroidism	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0000851	Congenital hypothyroidism	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0008223	Compensated hypothyroidism	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0011787	Central hypothyroidism	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0000832	Primary hypothyroidism	1	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0000832	Primary hypothyroidism	1	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0011787	Central hypothyroidism	1	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0011787	Central hypothyroidism	1	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0000832	Primary hypothyroidism	1	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0000832	Primary hypothyroidism	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0000851	Congenital hypothyroidism	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0008223	Compensated hypothyroidism	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0011787	Central hypothyroidism	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0008223	Compensated hypothyroidism	1	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0011787	Central hypothyroidism	1	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0000832	Primary hypothyroidism	1	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0000851	Congenital hypothyroidism	1	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0000832	Primary hypothyroidism	1	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0011787	Central hypothyroidism	1	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0000832	Primary hypothyroidism	1	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0011787	Central hypothyroidism	1	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0011787	Central hypothyroidism	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0000832	Primary hypothyroidism	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0011787	Central hypothyroidism	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0000832	Primary hypothyroidism	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0011787	Central hypothyroidism	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0000832	Primary hypothyroidism	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0000832	Primary hypothyroidism	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0011787	Central hypothyroidism	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0011787	Central hypothyroidism	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0000832	Primary hypothyroidism	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0011787	Central hypothyroidism	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0000832	Primary hypothyroidism	1	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0000832	Primary hypothyroidism	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0000851	Congenital hypothyroidism	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0008223	Compensated hypothyroidism	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0011787	Central hypothyroidism	1	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0011787	Central hypothyroidism	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0000832	Primary hypothyroidism	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0000832	Primary hypothyroidism	1	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0011787	Central hypothyroidism	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0000832	Primary hypothyroidism	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0011787	Central hypothyroidism	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0000832	Primary hypothyroidism	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0000832	Primary hypothyroidism	1	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0011787	Central hypothyroidism	1	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0011787	Central hypothyroidism	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0000832	Primary hypothyroidism	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0011787	Central hypothyroidism	1	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0000832	Primary hypothyroidism	1	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0000851	Congenital hypothyroidism	1	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0008223	Compensated hypothyroidism	1	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0000832	Primary hypothyroidism	1	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0000851	Congenital hypothyroidism	1	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0008223	Compensated hypothyroidism	1	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0011787	Central hypothyroidism	1	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0000832	Primary hypothyroidism	1	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0011787	Central hypothyroidism	1	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0011787	Central hypothyroidism	1	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0000832	Primary hypothyroidism	1	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0000832	Primary hypothyroidism	1	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0011787	Central hypothyroidism	1	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0011787	Central hypothyroidism	1	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0000832	Primary hypothyroidism	1	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0000832	Primary hypothyroidism	1	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0011787	Central hypothyroidism	1	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0000832	Primary hypothyroidism	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0008223	Compensated hypothyroidism	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0011787	Central hypothyroidism	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0008223	Compensated hypothyroidism	1	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0011787	Central hypothyroidism	1	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0000832	Primary hypothyroidism	1	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0000851	Congenital hypothyroidism	1	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0008223	Compensated hypothyroidism	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0011787	Central hypothyroidism	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0000832	Primary hypothyroidism	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0000851	Congenital hypothyroidism	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0000832	Primary hypothyroidism	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0011787	Central hypothyroidism	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0000832	Primary hypothyroidism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0011787	Central hypothyroidism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0011787	Central hypothyroidism	1	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0000832	Primary hypothyroidism	1	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0008223	Compensated hypothyroidism	1	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0011787	Central hypothyroidism	1	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0000832	Primary hypothyroidism	1	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0000851	Congenital hypothyroidism	1	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0011787	Central hypothyroidism	1	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0000832	Primary hypothyroidism	1	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0011787	Central hypothyroidism	1	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0000832	Primary hypothyroidism	1	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0011787	Central hypothyroidism	1	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0000832	Primary hypothyroidism	1	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0000832	Primary hypothyroidism	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0011787	Central hypothyroidism	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0011787	Central hypothyroidism	1	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0000832	Primary hypothyroidism	1	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0000832	Primary hypothyroidism	1	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0011787	Central hypothyroidism	1	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0000832	Primary hypothyroidism	1	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0011787	Central hypothyroidism	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0000832	Primary hypothyroidism	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0011787	Central hypothyroidism	1	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0000832	Primary hypothyroidism	1	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0011787	Central hypothyroidism	1	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0000832	Primary hypothyroidism	1	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0000832	Primary hypothyroidism	1	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0011787	Central hypothyroidism	1	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0000832	Primary hypothyroidism	1	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0011787	Central hypothyroidism	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0000832	Primary hypothyroidism	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0008223	Compensated hypothyroidism	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0011787	Central hypothyroidism	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0000832	Primary hypothyroidism	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0000832	Primary hypothyroidism	1	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0011787	Central hypothyroidism	1	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0011787	Central hypothyroidism	1	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0000832	Primary hypothyroidism	1	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0011787	Central hypothyroidism	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0000832	Primary hypothyroidism	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0011787	Central hypothyroidism	1	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0000832	Primary hypothyroidism	1	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0011787	Central hypothyroidism	1	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0000832	Primary hypothyroidism	1	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0000832	Primary hypothyroidism	1	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0011787	Central hypothyroidism	1	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0011787	Central hypothyroidism	1	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0000832	Primary hypothyroidism	1	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0000851	Congenital hypothyroidism	1	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0008223	Compensated hypothyroidism	1	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0011787	Central hypothyroidism	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0000832	Primary hypothyroidism	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0000832	Primary hypothyroidism	1	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0011787	Central hypothyroidism	1	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0011787	Central hypothyroidism	1	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0000832	Primary hypothyroidism	1	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0011787	Central hypothyroidism	1	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0000832	Primary hypothyroidism	1	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0008223	Compensated hypothyroidism	1	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0011787	Central hypothyroidism	1	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0000832	Primary hypothyroidism	1	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0000832	Primary hypothyroidism	1	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0000851	Congenital hypothyroidism	1	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0008223	Compensated hypothyroidism	1	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0011787	Central hypothyroidism	1	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0008223	Compensated hypothyroidism	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0011787	Central hypothyroidism	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0000832	Primary hypothyroidism	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0000832	Primary hypothyroidism	1	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0008223	Compensated hypothyroidism	1	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0011787	Central hypothyroidism	1	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0011787	Central hypothyroidism	1	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0000832	Primary hypothyroidism	1	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0011787	Central hypothyroidism	1	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0000832	Primary hypothyroidism	1	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0000832	Primary hypothyroidism	1	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0011787	Central hypothyroidism	1	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0011787	Central hypothyroidism	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0000832	Primary hypothyroidism	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0011787	Central hypothyroidism	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0000832	Primary hypothyroidism	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0000851	Congenital hypothyroidism	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0008223	Compensated hypothyroidism	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0011787	Central hypothyroidism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0000832	Primary hypothyroidism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0008223	Compensated hypothyroidism	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0011787	Central hypothyroidism	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0000832	Primary hypothyroidism	1	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0011787	Central hypothyroidism	1	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0000832	Primary hypothyroidism	1	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0011787	Central hypothyroidism	1	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0000832	Primary hypothyroidism	1	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0011787	Central hypothyroidism	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0000832	Primary hypothyroidism	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0000851	Congenital hypothyroidism	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0008223	Compensated hypothyroidism	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0008223	Compensated hypothyroidism	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0011787	Central hypothyroidism	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0000832	Primary hypothyroidism	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0000851	Congenital hypothyroidism	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0011787	Central hypothyroidism	1	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0000832	Primary hypothyroidism	1	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0011787	Central hypothyroidism	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0000832	Primary hypothyroidism	1	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0000832	Primary hypothyroidism	1	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0008223	Compensated hypothyroidism	1	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0011787	Central hypothyroidism	1	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0011787	Central hypothyroidism	1	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0000832	Primary hypothyroidism	1	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0011787	Central hypothyroidism	1	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0000832	Primary hypothyroidism	1	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0011787	Central hypothyroidism	1	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0000832	Primary hypothyroidism	1	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0000832	Primary hypothyroidism	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0011787	Central hypothyroidism	1	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0000832	Primary hypothyroidism	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0011787	Central hypothyroidism	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0011787	Central hypothyroidism	1	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0000832	Primary hypothyroidism	1	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0011787	Central hypothyroidism	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0000832	Primary hypothyroidism	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0000832	Primary hypothyroidism	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0011787	Central hypothyroidism	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0011787	Central hypothyroidism	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0000832	Primary hypothyroidism	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0011787	Central hypothyroidism	1	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0000832	Primary hypothyroidism	1	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0000851	Congenital hypothyroidism	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0008223	Compensated hypothyroidism	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0011787	Central hypothyroidism	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0000832	Primary hypothyroidism	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0011787	Central hypothyroidism	1	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0000832	Primary hypothyroidism	1	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0011787	Central hypothyroidism	1	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0000832	Primary hypothyroidism	1	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0011787	Central hypothyroidism	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0000832	Primary hypothyroidism	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0000832	Primary hypothyroidism	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0011787	Central hypothyroidism	1	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0011787	Central hypothyroidism	1	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0000832	Primary hypothyroidism	1	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0011787	Central hypothyroidism	1	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0000832	Primary hypothyroidism	1	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0011787	Central hypothyroidism	1	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0000832	Primary hypothyroidism	1	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0011787	Central hypothyroidism	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0000832	Primary hypothyroidism	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0000832	Primary hypothyroidism	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0011787	Central hypothyroidism	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0011787	Central hypothyroidism	1	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0000832	Primary hypothyroidism	1	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0011787	Central hypothyroidism	1	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0000832	Primary hypothyroidism	1	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0000851	Congenital hypothyroidism	1	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0000851	Congenital hypothyroidism	1	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0008223	Compensated hypothyroidism	1	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0011787	Central hypothyroidism	1	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0000832	Primary hypothyroidism	1	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0000851	Congenital hypothyroidism	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0008223	Compensated hypothyroidism	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0011787	Central hypothyroidism	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0000832	Primary hypothyroidism	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0011787	Central hypothyroidism	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0000832	Primary hypothyroidism	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0000851	Congenital hypothyroidism	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0008223	Compensated hypothyroidism	1	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0011787	Central hypothyroidism	1	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0000832	Primary hypothyroidism	1	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0011787	Central hypothyroidism	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0000832	Primary hypothyroidism	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0011787	Central hypothyroidism	1	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0000832	Primary hypothyroidism	1	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0000832	Primary hypothyroidism	1	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0011787	Central hypothyroidism	1	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0011787	Central hypothyroidism	1	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0000832	Primary hypothyroidism	1	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0011787	Central hypothyroidism	1	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0000832	Primary hypothyroidism	1	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0011787	Central hypothyroidism	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0000832	Primary hypothyroidism	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0011787	Central hypothyroidism	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0000832	Primary hypothyroidism	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0011787	Central hypothyroidism	1	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0011787	Central hypothyroidism	1	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0000832	Primary hypothyroidism	1	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0011787	Central hypothyroidism	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0000832	Primary hypothyroidism	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0000832	Primary hypothyroidism	1	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0000851	Congenital hypothyroidism	1	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0008223	Compensated hypothyroidism	1	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0011787	Central hypothyroidism	1	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0000832	Primary hypothyroidism	1	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0000851	Congenital hypothyroidism	1	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0008223	Compensated hypothyroidism	1	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0011787	Central hypothyroidism	1	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0008223	Compensated hypothyroidism	1	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0011787	Central hypothyroidism	1	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0000832	Primary hypothyroidism	1	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0000851	Congenital hypothyroidism	1	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0008223	Compensated hypothyroidism	1	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0011787	Central hypothyroidism	1	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0000832	Primary hypothyroidism	1	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	0	1666	57	603234
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ADA CL E G H	100	39041				ORPHA	0	544	186	608958
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	AIRE CL E G H	326	240300	Polyglandular autoimmune syndrome, type 1	240300	C0085859	OMIM	0	1035	360	607358
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ALX4 CL E G H	60529	52022				ORPHA	0	281	450	605420
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	APOE CL E G H	348	412				ORPHA	0	166	613	107741
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ARL6IP6 CL E G H	151188	1556				ORPHA	0	33	24048	616495
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ARVCF CL E G H	421	567				ORPHA	0	620	728	602269
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	0	688	20893	300485
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	197	1071	112262
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1083	1148	602452
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	1529	1149	602860
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	379	1151	603719
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CDON CL E G H	50937	280200				ORPHA	0	652	17104	608707
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	402	30794	607951
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CHD7 CL E G H	55636	39041				ORPHA	0	2930	20626	608892
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	COMT CL E G H	1312	567				ORPHA	0	610	2228	116790
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	CP CL E G H	1356	48818				ORPHA	0	831	2295	117700
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DACT1 CL E G H	51339	857	Benign familial infantile epilepsy			ORPHA	0	116	17748	607861
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DCLRE1C CL E G H	64421	39041				ORPHA	0	859	17642	605988
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DEAF1 CL E G H	10522	819				ORPHA	0	695	14677	602635
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DISP1 CL E G H	84976	280200				ORPHA	0	287	19711	607502
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DLL1 CL E G H	28514	280200				ORPHA	0	458	2908	606582
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	EFEMP2 CL E G H	30008	90349				ORPHA	0	428	3219	604633
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	0	520	3255	604032
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	0	589	3356	173335
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	EXT2 CL E G H	2132	52022				ORPHA	0	668	3513	608210
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FBLN5 CL E G H	10516	90349				ORPHA	0	454	3602	604580
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FGF8 CL E G H	2253	280200				ORPHA	0	98	3686	600483
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FGFR1 CL E G H	2260	280200				ORPHA	0	936	3688	136350
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	0	2185	27310	607273
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FLII CL E G H	2314	819				ORPHA	0	219	3750	600362
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FMR1 CL E G H	2332	93256				ORPHA	0	371	3775	309550
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FOXH1 CL E G H	8928	280200				ORPHA	0	279	3814	603621
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GABRD CL E G H	2563	1606				ORPHA	0	474	4084	137163
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GAS1 CL E G H	2619	280200				ORPHA	0	95	4165	139185
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GCH1 CL E G H	2643	98808				ORPHA	0	428	4193	600225
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GLI2 CL E G H	2736	280200				ORPHA	0	832	4318	165230
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GP1BB CL E G H	2812	567				ORPHA	0	479	4440	138720
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HBB CL E G H	3043	231214				ORPHA	0	1600	4827	141900
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HIRA CL E G H	7290	567				ORPHA	0	476	4916	600237
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HNF1B CL E G H	6928	93111				ORPHA	0	697	11630	189907
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HNF4A CL E G H	3172	93111				ORPHA	0	509	5024	600281
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HPD CL E G H	3242	2118				ORPHA	0	201	5147	609695
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	HSD17B3 CL E G H	3293	752				ORPHA	0	175	5212	605573
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	0	306	6008	147730
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IL2RG CL E G H	3561	39041				ORPHA	0	509	6010	308380
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IL7R CL E G H	3575	39041				ORPHA	0	428	6024	146661
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	IQSEC2 CL E G H	23096	819				ORPHA	0	1144	29059	300522
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	JMJD1C CL E G H	221037	567				ORPHA	0	1178	12313	604503
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	KCNAB2 CL E G H	8514	1606				ORPHA	0	114	6229	601142
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	0	154	4510	604161
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LIFR CL E G H	3977	3206				ORPHA	0	945	6597	151443
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LIG4 CL E G H	3981	39041				ORPHA	0	626	6601	601837
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NODAL CL E G H	4838	280200				ORPHA	0	154	7865	601265
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PHF21A CL E G H	51317	52022				ORPHA	0	185	24156	608325
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	0	134	14951	613257
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PRDM16 CL E G H	63976	1606				ORPHA	0	1272	14000	605557
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PTCH1 CL E G H	5727	280200				ORPHA	0	4487	9585	601309
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RAG1 CL E G H	5896	39041				ORPHA	0	635	9831	179615
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RAG2 CL E G H	5897	39041				ORPHA	0	451	9832	179616
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RAI1 CL E G H	10743	819				ORPHA	0	1608	9834	607642
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RERE CL E G H	473	1606				ORPHA	0	659	9965	605226
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RMRP CL E G H	6023	39041				ORPHA	0	802	10031	157660
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RREB1 CL E G H	6239	567				ORPHA	0	297	10449	602209
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SAA1 CL E G H	6288	85445				ORPHA	0	35	10513	104750
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SALL1 CL E G H	6299	857	Benign familial infantile epilepsy			ORPHA	0	441	10524	602218
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SCN4A CL E G H	6329	99736				ORPHA	0	1765	10591	603967
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SEC24C CL E G H	9632	567				ORPHA	0	58	10705	607185
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SHH CL E G H	6469	280200				ORPHA	0	429	10848	600725
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SIX3 CL E G H	6496	280200				ORPHA	0	183	10889	603714
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SKI CL E G H	6497	1606				ORPHA	0	1062	10896	164780
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SRY CL E G H	6736	1772				ORPHA	0	115	11311	480000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	STAT1 CL E G H	6772	614162	Immunodeficiency 31C	614162	C3279990	OMIM	0	557	11362	600555
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	STAT3 CL E G H	6774	615952	Autoimmune disease, multisystem, infantile-onset, 1	615952	C4014795	OMIM	0	639	11364	102582
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	STUB1 CL E G H	10273	412057				ORPHA	0	226	11427	607207
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SUFU CL E G H	51684	280200				ORPHA	0	1306	16466	607035
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TBX1 CL E G H	6899	567				ORPHA	0	1169	11592	602054
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TDGF1 CL E G H	6997	280200				ORPHA	0		11701	187395
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TF CL E G H	7018	1195				ORPHA	0	127	11740	190000
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TGIF1 CL E G H	7050	280200				ORPHA	0	261	11776	602630
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	0	228	12307	604507
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSC1 CL E G H	7248	805				ORPHA	0	4172	12362	605284
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSC2 CL E G H	7249	805				ORPHA	0	9638	12363	191092
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	UFD1 CL E G H	7353	567				ORPHA	0	415	12520	601754
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	WFS1 CL E G H	7466	411590				ORPHA	0	1634	12762	606201
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	ZIC2 CL E G H	7546	280200				ORPHA	0	360	12873	603073