Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000821	HP:0000821	Hypothyroidism	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0000821	HP:0000821	Hypothyroidism	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0000821	HP:0000821	Hypothyroidism	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0000821	HP:0000821	Hypothyroidism	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0000821	HP:0000821	Hypothyroidism	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare		16
HP:0000821	HP:0000821	Hypothyroidism	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.		16
HP:0000821	HP:0000821	Hypothyroidism	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		75
HP:0000821	HP:0000821	Hypothyroidism	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000821	HP:0000821	Hypothyroidism	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0000821	HP:0000821	Hypothyroidism	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0000821	HP:0000821	Hypothyroidism	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0000821	HP:0000821	Hypothyroidism	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000821	HP:0000821	Hypothyroidism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000821	HP:0000821	Hypothyroidism	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000821	HP:0000821	Hypothyroidism	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.		54
HP:0000821	HP:0000821	Hypothyroidism	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000821	HP:0000821	Hypothyroidism	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000821	HP:0000821	Hypothyroidism	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0000821	HP:0000821	Hypothyroidism	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000821	HP:0000821	Hypothyroidism	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000821	HP:0000821	Hypothyroidism	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		132
HP:0000821	HP:0000821	Hypothyroidism	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0000821	HP:0000821	Hypothyroidism	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000821	HP:0000821	Hypothyroidism	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0000821	HP:0000821	Hypothyroidism	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional		39
HP:0000821	HP:0000821	Hypothyroidism	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000821	HP:0000821	Hypothyroidism	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000821	HP:0000821	Hypothyroidism	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000821	HP:0000821	Hypothyroidism	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000821	HP:0000821	Hypothyroidism	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0000821	HP:0000821	Hypothyroidism	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000821	HP:0000821	Hypothyroidism	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000821	HP:0000821	Hypothyroidism	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000821	HP:0000821	Hypothyroidism	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0000821	HP:0000821	Hypothyroidism	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000821	HP:0000821	Hypothyroidism	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000821	HP:0000821	Hypothyroidism	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000821	HP:0000821	Hypothyroidism	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		1
HP:0000821	HP:0000821	Hypothyroidism	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0000821	HP:0000821	Hypothyroidism	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0000821	HP:0000821	Hypothyroidism	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0000821	HP:0000821	Hypothyroidism	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000821	HP:0000821	Hypothyroidism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000821	HP:0000821	Hypothyroidism	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV			102
HP:0000821	HP:0000821	Hypothyroidism	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		200
HP:0000821	HP:0000821	Hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000821	HP:0000821	Hypothyroidism	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0000821	HP:0000821	Hypothyroidism	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000821	HP:0000821	Hypothyroidism	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000821	HP:0000821	Hypothyroidism	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		515
HP:0000821	HP:0000821	Hypothyroidism	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0000821	HP:0000821	Hypothyroidism	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000821	HP:0000821	Hypothyroidism	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000821	HP:0000821	Hypothyroidism	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000821	HP:0000821	Hypothyroidism	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000821	HP:0000821	Hypothyroidism	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional		178
HP:0000821	HP:0000821	Hypothyroidism	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0000821	HP:0000821	Hypothyroidism	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0000821	HP:0000821	Hypothyroidism	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0000821	HP:0000821	Hypothyroidism	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000821	HP:0000821	Hypothyroidism	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0000821	HP:0000821	Hypothyroidism	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		33
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000821	HP:0000821	Hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000821	HP:0000821	Hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000821	HP:0000821	Hypothyroidism	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0000821	HP:0000821	Hypothyroidism	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0000821	HP:0000821	Hypothyroidism	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0000821	HP:0000821	Hypothyroidism	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare		25
HP:0000821	HP:0000821	Hypothyroidism	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0000821	HP:0000821	Hypothyroidism	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0000821	HP:0000821	Hypothyroidism	0	DUOX2 CL E G H	50506	13273	OMIM:607200	Thyroid dyshormonogenesis 6	.		121
HP:0000821	HP:0000821	Hypothyroidism	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0000821	HP:0000821	Hypothyroidism	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.		11
HP:0000821	HP:0000821	Hypothyroidism	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0000821	HP:0000821	Hypothyroidism	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0000821	HP:0000821	Hypothyroidism	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0000821	HP:0000821	Hypothyroidism	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000821	HP:0000821	Hypothyroidism	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0000821	HP:0000821	Hypothyroidism	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000821	HP:0000821	Hypothyroidism	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		102
HP:0000821	HP:0000821	Hypothyroidism	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0000821	HP:0000821	Hypothyroidism	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000821	HP:0000821	Hypothyroidism	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000821	HP:0000821	Hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000821	HP:0000821	Hypothyroidism	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000821	HP:0000821	Hypothyroidism	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0000821	HP:0000821	Hypothyroidism	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000821	HP:0000821	Hypothyroidism	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	HP:0040283 - Occasional		332
HP:0000821	HP:0000821	Hypothyroidism	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0000821	HP:0000821	Hypothyroidism	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040283 - Occasional		30
HP:0000821	HP:0000821	Hypothyroidism	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0000821	HP:0000821	Hypothyroidism	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000821	HP:0000821	Hypothyroidism	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		9
HP:0000821	HP:0000821	Hypothyroidism	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000821	HP:0000821	Hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000821	HP:0000821	Hypothyroidism	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent		33
HP:0000821	HP:0000821	Hypothyroidism	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome			33
HP:0000821	HP:0000821	Hypothyroidism	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000821	HP:0000821	Hypothyroidism	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0000821	HP:0000821	Hypothyroidism	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0000821	HP:0000821	Hypothyroidism	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0000821	HP:0000821	Hypothyroidism	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare		3
HP:0000821	HP:0000821	Hypothyroidism	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000821	HP:0000821	Hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000821	HP:0000821	Hypothyroidism	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0000821	HP:0000821	Hypothyroidism	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0000821	HP:0000821	Hypothyroidism	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000821	HP:0000821	Hypothyroidism	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000821	HP:0000821	Hypothyroidism	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000821	HP:0000821	Hypothyroidism	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0000821	HP:0000821	Hypothyroidism	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0000821	HP:0000821	Hypothyroidism	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0000821	HP:0000821	Hypothyroidism	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000821	HP:0000821	Hypothyroidism	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent		173
HP:0000821	HP:0000821	Hypothyroidism	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000821	HP:0000821	Hypothyroidism	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		2
HP:0000821	HP:0000821	Hypothyroidism	0	GRIA1 CL E G H	2890	4571	OMIM:619927				3
HP:0000821	HP:0000821	Hypothyroidism	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0000821	HP:0000821	Hypothyroidism	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000821	HP:0000821	Hypothyroidism	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare		580
HP:0000821	HP:0000821	Hypothyroidism	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0000821	HP:0000821	Hypothyroidism	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0000821	HP:0000821	Hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000821	HP:0000821	Hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000821	HP:0000821	Hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		21
HP:0000821	HP:0000821	Hypothyroidism	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0000821	HP:0000821	Hypothyroidism	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000821	HP:0000821	Hypothyroidism	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000821	HP:0000821	Hypothyroidism	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		2
HP:0000821	HP:0000821	Hypothyroidism	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0000821	HP:0000821	Hypothyroidism	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000821	HP:0000821	Hypothyroidism	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000821	HP:0000821	Hypothyroidism	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040283 - Occasional		23
HP:0000821	HP:0000821	Hypothyroidism	0	HSD17B3 CL E G H	3293	5212	ORPHA:752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0040283 - Occasional		31
HP:0000821	HP:0000821	Hypothyroidism	0	HSD17B3 CL E G H	3293	5212	OMIM:264300	Pseudohermaphroditism, male, with gynecomastia	.		31
HP:0000821	HP:0000821	Hypothyroidism	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000821	HP:0000821	Hypothyroidism	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0000821	HP:0000821	Hypothyroidism	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0000821	HP:0000821	Hypothyroidism	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.		23
HP:0000821	HP:0000821	Hypothyroidism	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0000821	HP:0000821	Hypothyroidism	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement			12
HP:0000821	HP:0000821	Hypothyroidism	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0000821	HP:0000821	Hypothyroidism	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		48
HP:0000821	HP:0000821	Hypothyroidism	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000821	HP:0000821	Hypothyroidism	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0000821	HP:0000821	Hypothyroidism	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0000821	HP:0000821	Hypothyroidism	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0000821	HP:0000821	Hypothyroidism	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000821	HP:0000821	Hypothyroidism	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		119
HP:0000821	HP:0000821	Hypothyroidism	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0000821	HP:0000821	Hypothyroidism	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000821	HP:0000821	Hypothyroidism	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent		3
HP:0000821	HP:0000821	Hypothyroidism	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0000821	HP:0000821	Hypothyroidism	0	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.		130
HP:0000821	HP:0000821	Hypothyroidism	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0000821	HP:0000821	Hypothyroidism	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040284 - Very rare		283
HP:0000821	HP:0000821	Hypothyroidism	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040284 - Very rare		283
HP:0000821	HP:0000821	Hypothyroidism	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000821	HP:0000821	Hypothyroidism	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0000821	HP:0000821	Hypothyroidism	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0000821	HP:0000821	Hypothyroidism	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000821	HP:0000821	Hypothyroidism	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome			121
HP:0000821	HP:0000821	Hypothyroidism	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent		121
HP:0000821	HP:0000821	Hypothyroidism	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0000821	HP:0000821	Hypothyroidism	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0000821	HP:0000821	Hypothyroidism	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	HP:0040283 - Occasional		14
HP:0000821	HP:0000821	Hypothyroidism	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0000821	HP:0000821	Hypothyroidism	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000821	HP:0000821	Hypothyroidism	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0000821	HP:0000821	Hypothyroidism	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0000821	HP:0000821	Hypothyroidism	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0000821	HP:0000821	Hypothyroidism	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0000821	HP:0000821	Hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000821	HP:0000821	Hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.		43
HP:0000821	HP:0000821	Hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		43
HP:0000821	HP:0000821	Hypothyroidism	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional		144
HP:0000821	HP:0000821	Hypothyroidism	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0000821	HP:0000821	Hypothyroidism	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		88
HP:0000821	HP:0000821	Hypothyroidism	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		88
HP:0000821	HP:0000821	Hypothyroidism	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0000821	HP:0000821	Hypothyroidism	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000821	HP:0000821	Hypothyroidism	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000821	HP:0000821	Hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0000821	HP:0000821	Hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000821	HP:0000821	Hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0000821	HP:0000821	Hypothyroidism	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0000821	HP:0000821	Hypothyroidism	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0000821	HP:0000821	Hypothyroidism	0	MCM8 CL E G H	84515	16147	OMIM:612885	Premature ovarian failure 10			4
HP:0000821	HP:0000821	Hypothyroidism	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0000821	HP:0000821	Hypothyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000821	HP:0000821	Hypothyroidism	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000821	HP:0000821	Hypothyroidism	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0000821	HP:0000821	Hypothyroidism	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040283 - Occasional		51
HP:0000821	HP:0000821	Hypothyroidism	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0000821	HP:0000821	Hypothyroidism	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0000821	HP:0000821	Hypothyroidism	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0000821	HP:0000821	Hypothyroidism	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000821	HP:0000821	Hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000821	HP:0000821	Hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000821	HP:0000821	Hypothyroidism	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000821	HP:0000821	Hypothyroidism	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000821	HP:0000821	Hypothyroidism	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7			55
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		51
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		90
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0000821	HP:0000821	Hypothyroidism	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		90
HP:0000821	HP:0000821	Hypothyroidism	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0000821	HP:0000821	Hypothyroidism	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000821	HP:0000821	Hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000821	HP:0000821	Hypothyroidism	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0000821	HP:0000821	Hypothyroidism	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0000821	HP:0000821	Hypothyroidism	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0000821	HP:0000821	Hypothyroidism	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0000821	HP:0000821	Hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0000821	HP:0000821	Hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000821	HP:0000821	Hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0000821	HP:0000821	Hypothyroidism	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0000821	HP:0000821	Hypothyroidism	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		63
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		63
HP:0000821	HP:0000821	Hypothyroidism	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		63
HP:0000821	HP:0000821	Hypothyroidism	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0000821	HP:0000821	Hypothyroidism	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0000821	HP:0000821	Hypothyroidism	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0000821	HP:0000821	Hypothyroidism	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000821	HP:0000821	Hypothyroidism	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0000821	HP:0000821	Hypothyroidism	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0000821	HP:0000821	Hypothyroidism	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.		162
HP:0000821	HP:0000821	Hypothyroidism	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000821	HP:0000821	Hypothyroidism	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000821	HP:0000821	Hypothyroidism	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0000821	HP:0000821	Hypothyroidism	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000821	HP:0000821	Hypothyroidism	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0000821	HP:0000821	Hypothyroidism	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000821	HP:0000821	Hypothyroidism	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0000821	HP:0000821	Hypothyroidism	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0000821	HP:0000821	Hypothyroidism	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000821	HP:0000821	Hypothyroidism	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0000821	HP:0000821	Hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000821	HP:0000821	Hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000821	HP:0000821	Hypothyroidism	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0000821	HP:0000821	Hypothyroidism	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000821	HP:0000821	Hypothyroidism	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000821	HP:0000821	Hypothyroidism	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000821	HP:0000821	Hypothyroidism	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000821	HP:0000821	Hypothyroidism	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0000821	HP:0000821	Hypothyroidism	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		34
HP:0000821	HP:0000821	Hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000821	HP:0000821	Hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000821	HP:0000821	Hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0000821	HP:0000821	Hypothyroidism	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.		54
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000821	HP:0000821	Hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000821	HP:0000821	Hypothyroidism	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.		948
HP:0000821	HP:0000821	Hypothyroidism	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0000821	HP:0000821	Hypothyroidism	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000821	HP:0000821	Hypothyroidism	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		127
HP:0000821	HP:0000821	Hypothyroidism	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		50
HP:0000821	HP:0000821	Hypothyroidism	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		150
HP:0000821	HP:0000821	Hypothyroidism	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0000821	HP:0000821	Hypothyroidism	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000821	HP:0000821	Hypothyroidism	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		37
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0000821	HP:0000821	Hypothyroidism	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0000821	HP:0000821	Hypothyroidism	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000821	HP:0000821	Hypothyroidism	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		7
HP:0000821	HP:0000821	Hypothyroidism	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000821	HP:0000821	Hypothyroidism	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0000821	HP:0000821	Hypothyroidism	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040284 - Very rare		2
HP:0000821	HP:0000821	Hypothyroidism	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000821	HP:0000821	Hypothyroidism	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000821	HP:0000821	Hypothyroidism	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0000821	HP:0000821	Hypothyroidism	0	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0000821	HP:0000821	Hypothyroidism	0	SCN4A CL E G H	6329	10591	ORPHA:99736	Acetazolamide-responsive myotonia	HP:0040283 - Occasional		263
HP:0000821	HP:0000821	Hypothyroidism	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000821	HP:0000821	Hypothyroidism	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0000821	HP:0000821	Hypothyroidism	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000821	HP:0000821	Hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000821	HP:0000821	Hypothyroidism	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000821	HP:0000821	Hypothyroidism	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000821	HP:0000821	Hypothyroidism	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		274
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome			274
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent		274
HP:0000821	HP:0000821	Hypothyroidism	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		274
HP:0000821	HP:0000821	Hypothyroidism	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0000821	HP:0000821	Hypothyroidism	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0000821	HP:0000821	Hypothyroidism	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.		59
HP:0000821	HP:0000821	Hypothyroidism	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional		12
HP:0000821	HP:0000821	Hypothyroidism	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000821	HP:0000821	Hypothyroidism	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000821	HP:0000821	Hypothyroidism	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000821	HP:0000821	Hypothyroidism	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000821	HP:0000821	Hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0000821	HP:0000821	Hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000821	HP:0000821	Hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0000821	HP:0000821	Hypothyroidism	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.		24
HP:0000821	HP:0000821	Hypothyroidism	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0000821	HP:0000821	Hypothyroidism	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000821	HP:0000821	Hypothyroidism	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000821	HP:0000821	Hypothyroidism	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional		80
HP:0000821	HP:0000821	Hypothyroidism	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000821	HP:0000821	Hypothyroidism	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0000821	HP:0000821	Hypothyroidism	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0000821	HP:0000821	Hypothyroidism	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0000821	HP:0000821	Hypothyroidism	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0000821	HP:0000821	Hypothyroidism	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000821	HP:0000821	Hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000821	HP:0000821	Hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000821	HP:0000821	Hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000821	HP:0000821	Hypothyroidism	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0000821	HP:0000821	Hypothyroidism	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000821	HP:0000821	Hypothyroidism	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0000821	HP:0000821	Hypothyroidism	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000821	HP:0000821	Hypothyroidism	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0000821	HP:0000821	Hypothyroidism	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000821	HP:0000821	Hypothyroidism	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000821	HP:0000821	Hypothyroidism	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0000821	HP:0000821	Hypothyroidism	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8			1
HP:0000821	HP:0000821	Hypothyroidism	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000821	HP:0000821	Hypothyroidism	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000821	HP:0000821	Hypothyroidism	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000821	HP:0000821	Hypothyroidism	0	TF CL E G H	7018	11740	ORPHA:1195	Congenital atransferrinemia	HP:0040283 - Occasional		45
HP:0000821	HP:0000821	Hypothyroidism	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0000821	HP:0000821	Hypothyroidism	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3			155
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000821	HP:0000821	Hypothyroidism	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6			9
HP:0000821	HP:0000821	Hypothyroidism	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0000821	HP:0000821	Hypothyroidism	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0000821	HP:0000821	Hypothyroidism	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000821	HP:0000821	Hypothyroidism	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0000821	HP:0000821	Hypothyroidism	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0000821	HP:0000821	Hypothyroidism	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0000821	HP:0000821	Hypothyroidism	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A	.		92
HP:0000821	HP:0000821	Hypothyroidism	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000821	HP:0000821	Hypothyroidism	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000821	HP:0000821	Hypothyroidism	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0000821	HP:0000821	Hypothyroidism	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000821	HP:0000821	Hypothyroidism	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0000821	HP:0000821	Hypothyroidism	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0000821	HP:0000821	Hypothyroidism	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0000821	HP:0000821	Hypothyroidism	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0000821	HP:0000821	Hypothyroidism	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000821	HP:0000821	Hypothyroidism	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0000821	HP:0000821	Hypothyroidism	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0000821	HP:0000821	Hypothyroidism	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0000821	HP:0000821	Hypothyroidism	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0000821	HP:0000821	Hypothyroidism	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0000821	HP:0000821	Hypothyroidism	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.		2738
HP:0000821	HP:0000821	Hypothyroidism	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4			9
HP:0000821	HP:0000821	Hypothyroidism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		97
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0000821	HP:0000821	Hypothyroidism	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		97
HP:0000821	HP:0000821	Hypothyroidism	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0000821	HP:0000821	Hypothyroidism	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0000821	HP:0000821	Hypothyroidism	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000821	HP:0000821	Hypothyroidism	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000821	HP:0000821	Hypothyroidism	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000821	HP:0000821	Hypothyroidism	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		10
HP:0000821	HP:0000821	Hypothyroidism	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	HP:0040284 - Very rare
HP:0000821	HP:0000821	Hypothyroidism	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0000821	HP:0000821	Hypothyroidism	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040283 - Occasional		389
HP:0000821	HP:0000821	Hypothyroidism	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		9
HP:0000821	HP:0000821	Hypothyroidism	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0000821	HP:0000821	Hypothyroidism	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000821	HP:0000821	Hypothyroidism	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0000821	HP:0000821	Hypothyroidism	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0000821	HP:0000821	Hypothyroidism	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000821	HP:0000821	Hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000821	HP:0011787	Central hypothyroidism	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000821	HP:0011787	Central hypothyroidism	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000821	HP:0000832	Primary hypothyroidism	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000821	HP:0011787	Central hypothyroidism	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000821	HP:0000851	Congenital hypothyroidism	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0000821	HP:0000851	Congenital hypothyroidism	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000821	HP:0011787	Central hypothyroidism	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000821	HP:0011787	Central hypothyroidism	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000821	HP:0011787	Central hypothyroidism	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0000821	HP:0011787	Central hypothyroidism	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000821	HP:0011787	Central hypothyroidism	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000821	HP:0011787	Central hypothyroidism	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000821	HP:0000832	Primary hypothyroidism	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000821	HP:0000832	Primary hypothyroidism	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040284 - Very rare		62
HP:0000821	HP:0011787	Central hypothyroidism	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000821	HP:0011787	Central hypothyroidism	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000821	HP:0011787	Central hypothyroidism	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0000821	HP:0011787	Central hypothyroidism	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000821	HP:0011787	Central hypothyroidism	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000821	HP:0011787	Central hypothyroidism	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000821	HP:0011787	Central hypothyroidism	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0000821	HP:0011787	Central hypothyroidism	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000821	HP:0011787	Central hypothyroidism	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040283 - Occasional		3
HP:0000821	HP:0011787	Central hypothyroidism	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOX2 CL E G H	50506	13273	OMIM:607200	Thyroid dyshormonogenesis 6	.		121
HP:0000821	HP:0000851	Congenital hypothyroidism	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0000821	HP:0011787	Central hypothyroidism	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0000821	HP:0011787	Central hypothyroidism	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000821	HP:0011787	Central hypothyroidism	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000821	HP:0011787	Central hypothyroidism	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0000821	HP:0011787	Central hypothyroidism	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000821	HP:0011787	Central hypothyroidism	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000821	HP:0011787	Central hypothyroidism	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000821	HP:0000851	Congenital hypothyroidism	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0000821	HP:0011787	Central hypothyroidism	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000821	HP:0008223	Compensated hypothyroidism	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.		33
HP:0000821	HP:0011787	Central hypothyroidism	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000821	HP:0011787	Central hypothyroidism	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000821	HP:0011787	Central hypothyroidism	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0000821	HP:0011787	Central hypothyroidism	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000821	HP:0011787	Central hypothyroidism	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	HP:0003623 - Neonatal onset	143
HP:0000821	HP:0000851	Congenital hypothyroidism	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000821	HP:0011787	Central hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000821	HP:0011787	Central hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0000821	HP:0011787	Central hypothyroidism	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000821	HP:0011787	Central hypothyroidism	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional		229
HP:0000821	HP:0011787	Central hypothyroidism	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0000821	HP:0000851	Congenital hypothyroidism	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0000821	HP:0011787	Central hypothyroidism	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000821	HP:0008223	Compensated hypothyroidism	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.		121
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000821	HP:0000851	Congenital hypothyroidism	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000821	HP:0011787	Central hypothyroidism	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0000821	HP:0011787	Central hypothyroidism	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0000821	HP:0011787	Central hypothyroidism	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome			51
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000821	HP:0011787	Central hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0000821	HP:0011787	Central hypothyroidism	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000821	HP:0011787	Central hypothyroidism	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0000821	HP:0011787	Central hypothyroidism	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0000821	HP:0011787	Central hypothyroidism	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0000821	HP:0011787	Central hypothyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000821	HP:0000851	Congenital hypothyroidism	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0000821	HP:0011787	Central hypothyroidism	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0000821	HP:0011787	Central hypothyroidism	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000821	HP:0011787	Central hypothyroidism	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000821	HP:0011787	Central hypothyroidism	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000821	HP:0011787	Central hypothyroidism	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000821	HP:0011787	Central hypothyroidism	1	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent		51
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.		51
HP:0000821	HP:0008223	Compensated hypothyroidism	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.		51
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0000821	HP:0000851	Congenital hypothyroidism	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional		13
HP:0000821	HP:0011787	Central hypothyroidism	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000821	HP:0011787	Central hypothyroidism	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000821	HP:0011787	Central hypothyroidism	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0000821	HP:0011787	Central hypothyroidism	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000821	HP:0011787	Central hypothyroidism	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0000821	HP:0011787	Central hypothyroidism	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0000821	HP:0011787	Central hypothyroidism	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0000821	HP:0011787	Central hypothyroidism	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0000821	HP:0011787	Central hypothyroidism	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional		113
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0000821	HP:0011787	Central hypothyroidism	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000821	HP:0011787	Central hypothyroidism	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000821	HP:0011787	Central hypothyroidism	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0000821	HP:0011787	Central hypothyroidism	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0000821	HP:0011787	Central hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000821	HP:0011787	Central hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0000821	HP:0011787	Central hypothyroidism	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000821	HP:0000851	Congenital hypothyroidism	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0000821	HP:0011787	Central hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000821	HP:0011787	Central hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0000821	HP:0011787	Central hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0000821	HP:0011787	Central hypothyroidism	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000821	HP:0011787	Central hypothyroidism	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000821	HP:0011787	Central hypothyroidism	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0000821	HP:0011787	Central hypothyroidism	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000821	HP:0011787	Central hypothyroidism	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome			1
HP:0000821	HP:0011787	Central hypothyroidism	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000821	HP:0011787	Central hypothyroidism	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0000821	HP:0011787	Central hypothyroidism	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000821	HP:0011787	Central hypothyroidism	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000821	HP:0011787	Central hypothyroidism	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0000821	HP:0011787	Central hypothyroidism	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000821	HP:0011787	Central hypothyroidism	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0000821	HP:0011787	Central hypothyroidism	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0008223	Compensated hypothyroidism	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.		274
HP:0000821	HP:0000851	Congenital hypothyroidism	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0000821	HP:0011787	Central hypothyroidism	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000821	HP:0011787	Central hypothyroidism	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000821	HP:0011787	Central hypothyroidism	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0000821	HP:0011787	Central hypothyroidism	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000821	HP:0011787	Central hypothyroidism	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0000821	HP:0011787	Central hypothyroidism	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0000821	HP:0011787	Central hypothyroidism	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0000821	HP:0011787	Central hypothyroidism	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0000821	HP:0011787	Central hypothyroidism	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0011787	Central hypothyroidism	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0000851	Congenital hypothyroidism	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0000821	HP:0000832	Primary hypothyroidism	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0000821	HP:0011787	Central hypothyroidism	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000821	HP:0011787	Central hypothyroidism	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000821	HP:0011787	Central hypothyroidism	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0000821	HP:0011787	Central hypothyroidism	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000821	HP:0011787	Central hypothyroidism	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0000821	HP:0011787	Central hypothyroidism	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8			1
HP:0000821	HP:0011787	Central hypothyroidism	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0011787	Central hypothyroidism	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0011787	Central hypothyroidism	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0011787	Central hypothyroidism	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000821	HP:0011787	Central hypothyroidism	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.		155
HP:0000821	HP:0011787	Central hypothyroidism	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0011787	Central hypothyroidism	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000821	HP:0000851	Congenital hypothyroidism	1	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0000821	HP:0008223	Compensated hypothyroidism	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0000821	HP:0011787	Central hypothyroidism	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0000821	HP:0000832	Primary hypothyroidism	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0000821	HP:0011787	Central hypothyroidism	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0000821	HP:0011787	Central hypothyroidism	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency			5
HP:0000821	HP:0011787	Central hypothyroidism	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0000821	HP:0011787	Central hypothyroidism	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0000821	HP:0008223	Compensated hypothyroidism	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040281 - Very frequent		97
HP:0000821	HP:0000851	Congenital hypothyroidism	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0000821	HP:0000851	Congenital hypothyroidism	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000821	HP:0011787	Central hypothyroidism	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000821	HP:0011787	Central hypothyroidism	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000821	HP:0011787	Central hypothyroidism	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0000821	HP:0011787	Central hypothyroidism	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent		54
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent		184
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent		21
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	HID1 CL E G H	283987	15736	OMIM:619983
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent		47
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.		46
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent		46
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent		51
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent		43
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent		220
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent		9
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent		162
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent		36
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent		54
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional		1
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent		87
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent		47
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent		22
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent		124
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent		238
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000821	HP:0008237	Hypothalamic hypothyroidism	2	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0000821	HP:0008245	Pituitary hypothyroidism	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent		9