Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100000	HP:0100000	Early onset of sexual maturation	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0100000	HP:0100000	Early onset of sexual maturation	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100000	HP:0100000	Early onset of sexual maturation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0100000	HP:0100000	Early onset of sexual maturation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly		200
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0100000	HP:0100000	Early onset of sexual maturation	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome		57
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly		22
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly		3
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100000	HP:0100000	Early onset of sexual maturation	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0100000	HP:0100000	Early onset of sexual maturation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0100000	HP:0100000	Early onset of sexual maturation	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly		17
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly		48
HP:0100000	HP:0100000	Early onset of sexual maturation	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly		173
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100000	HP:0100000	Early onset of sexual maturation	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0100000	HP:0100000	Early onset of sexual maturation	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease		15
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease		29
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100000	HP:0100000	Early onset of sexual maturation	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0100000	HP:0100000	Early onset of sexual maturation	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities		229
HP:0100000	HP:0100000	Early onset of sexual maturation	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome		119
HP:0100000	HP:0100000	Early onset of sexual maturation	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100000	HP:0100000	Early onset of sexual maturation	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty		67
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome		645
HP:0100000	HP:0100000	Early onset of sexual maturation	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		63
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		63
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0100000	HP:0100000	Early onset of sexual maturation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0100000	HP:0100000	Early onset of sexual maturation	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly		45
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0100000	HP:0100000	Early onset of sexual maturation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100000	HP:0100000	Early onset of sexual maturation	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		121
HP:0100000	HP:0100000	Early onset of sexual maturation	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0100000	HP:0100000	Early onset of sexual maturation	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		121
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes		20
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly		665
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease		58
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0100000	HP:0100000	Early onset of sexual maturation	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly		67
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15		37
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2		37
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100000	HP:0100000	Early onset of sexual maturation	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0100000	HP:0100000	Early onset of sexual maturation	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0100000	HP:0100000	Early onset of sexual maturation	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly		99
HP:0100000	HP:0100000	Early onset of sexual maturation	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0100000	HP:0100000	Early onset of sexual maturation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly		32
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100000	HP:0100000	Early onset of sexual maturation	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0100000	HP:0100000	Early onset of sexual maturation	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0100000	HP:0100000	Early onset of sexual maturation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly		34
HP:0100000	HP:0100000	Early onset of sexual maturation	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0100000	HP:0000826	Precocious puberty	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0100000	HP:0000826	Precocious puberty	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism		95
HP:0100000	HP:0000826	Precocious puberty	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0100000	HP:0000826	Precocious puberty	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0100000	HP:0000826	Precocious puberty	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0100000	HP:0000826	Precocious puberty	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0100000	HP:0000826	Precocious puberty	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0100000	HP:0000826	Precocious puberty	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0100000	HP:0000826	Precocious puberty	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0100000	HP:0000826	Precocious puberty	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0100000	HP:0000826	Precocious puberty	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0100000	HP:0000826	Precocious puberty	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0100000	HP:0000826	Precocious puberty	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0100000	HP:0000826	Precocious puberty	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100000	HP:0000826	Precocious puberty	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0100000	HP:0000826	Precocious puberty	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0100000	HP:0000826	Precocious puberty	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0100000	HP:0012412	Premature adrenarche	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0100000	HP:0000826	Precocious puberty	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0100000	HP:0000826	Precocious puberty	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100000	HP:0000826	Precocious puberty	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional	57
HP:0100000	HP:0000826	Precocious puberty	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	33
HP:0100000	HP:0000826	Precocious puberty	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0100000	HP:0000826	Precocious puberty	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0100000	HP:0000826	Precocious puberty	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0100000	HP:0000826	Precocious puberty	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent	1
HP:0100000	HP:0000826	Precocious puberty	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0100000	HP:0000826	Precocious puberty	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0100000	HP:0000826	Precocious puberty	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100000	HP:0000826	Precocious puberty	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0100000	HP:0000826	Precocious puberty	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100000	HP:0000826	Precocious puberty	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0100000	HP:0000826	Precocious puberty	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100000	HP:0000826	Precocious puberty	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0100000	HP:0000826	Precocious puberty	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0100000	HP:0000826	Precocious puberty	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0100000	HP:0000826	Precocious puberty	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0100000	HP:0000826	Precocious puberty	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0100000	HP:0000826	Precocious puberty	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100000	HP:0000826	Precocious puberty	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0100000	HP:0000826	Precocious puberty	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0100000	HP:0000826	Precocious puberty	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0100000	HP:0000826	Precocious puberty	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0100000	HP:0000826	Precocious puberty	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0100000	HP:0000826	Precocious puberty	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040281 - Very frequent	101
HP:0100000	HP:0000826	Precocious puberty	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0100000	HP:0000826	Precocious puberty	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0100000	HP:0012412	Premature adrenarche	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0100000	HP:0000826	Precocious puberty	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0100000	HP:0000826	Precocious puberty	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0100000	HP:0000826	Precocious puberty	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100000	HP:0000826	Precocious puberty	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.	8
HP:0100000	HP:0000826	Precocious puberty	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0100000	HP:0000826	Precocious puberty	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0100000	HP:0000826	Precocious puberty	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100000	HP:0000826	Precocious puberty	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	113
HP:0100000	HP:0000826	Precocious puberty	1	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0100000	HP:0000826	Precocious puberty	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0100000	HP:0000826	Precocious puberty	1	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency		34
HP:0100000	HP:0012412	Premature adrenarche	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0100000	HP:0000826	Precocious puberty	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0100000	HP:0000826	Precocious puberty	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0100000	HP:0000826	Precocious puberty	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0100000	HP:0000826	Precocious puberty	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0100000	HP:0000826	Precocious puberty	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0100000	HP:0000826	Precocious puberty	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0100000	HP:0000826	Precocious puberty	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0100000	HP:0000826	Precocious puberty	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	IQSEC2 CL E G H	23096	29059	ORPHA:217377	Microduplication Xp11.22p11.23 syndrome	HP:0040282 - Frequent	119
HP:0100000	HP:0000826	Precocious puberty	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	119
HP:0100000	HP:0000826	Precocious puberty	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0100000	HP:0000826	Precocious puberty	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0100000	HP:0000826	Precocious puberty	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0100000	HP:0000826	Precocious puberty	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0100000	HP:0000826	Precocious puberty	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100000	HP:0000826	Precocious puberty	1	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central		14
HP:0100000	HP:0000826	Precocious puberty	1	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28		11
HP:0100000	HP:0000826	Precocious puberty	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0100000	HP:0000826	Precocious puberty	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0100000	HP:0000826	Precocious puberty	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100000	HP:0000826	Precocious puberty	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	196
HP:0100000	HP:0000826	Precocious puberty	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0100000	HP:0000826	Precocious puberty	1	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040281 - Very frequent	67
HP:0100000	HP:0000826	Precocious puberty	1	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0100000	HP:0000826	Precocious puberty	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	645
HP:0100000	HP:0000826	Precocious puberty	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0100000	HP:0000826	Precocious puberty	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional	5
HP:0100000	HP:0000826	Precocious puberty	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0100000	HP:0000826	Precocious puberty	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0100000	HP:0000826	Precocious puberty	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	63
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040284 - Very rare	63
HP:0100000	HP:0000826	Precocious puberty	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040284 - Very rare	63
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	94
HP:0100000	HP:0000826	Precocious puberty	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0100000	HP:0000826	Precocious puberty	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent	1
HP:0100000	HP:0000826	Precocious puberty	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism		462
HP:0100000	HP:0000826	Precocious puberty	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0100000	HP:0000826	Precocious puberty	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0100000	HP:0000826	Precocious puberty	1	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0100000	HP:0000826	Precocious puberty	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0100000	HP:0000826	Precocious puberty	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0100000	HP:0000826	Precocious puberty	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0100000	HP:0000826	Precocious puberty	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	26
HP:0100000	HP:0000826	Precocious puberty	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0100000	HP:0000826	Precocious puberty	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare
HP:0100000	HP:0000826	Precocious puberty	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040284 - Very rare
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040284 - Very rare
HP:0100000	HP:0000826	Precocious puberty	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0100000	HP:0000826	Precocious puberty	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0100000	HP:0000826	Precocious puberty	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0100000	HP:0000826	Precocious puberty	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	13
HP:0100000	HP:0000826	Precocious puberty	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0100000	HP:0000826	Precocious puberty	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0100000	HP:0000826	Precocious puberty	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0100000	HP:0000826	Precocious puberty	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0100000	HP:0000826	Precocious puberty	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional	79
HP:0100000	HP:0000826	Precocious puberty	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	HP:0040283 - Occasional	102
HP:0100000	HP:0000826	Precocious puberty	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0100000	HP:0000826	Precocious puberty	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	121
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040284 - Very rare	121
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040284 - Very rare	121
HP:0100000	HP:0000826	Precocious puberty	1	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes		20
HP:0100000	HP:0000826	Precocious puberty	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0100000	HP:0000826	Precocious puberty	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0100000	HP:0000826	Precocious puberty	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0100000	HP:0000826	Precocious puberty	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100000	HP:0000826	Precocious puberty	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0100000	HP:0000826	Precocious puberty	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0100000	HP:0000826	Precocious puberty	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0100000	HP:0000826	Precocious puberty	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0100000	HP:0000826	Precocious puberty	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0100000	HP:0000826	Precocious puberty	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0100000	HP:0000826	Precocious puberty	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0100000	HP:0000826	Precocious puberty	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0100000	HP:0000826	Precocious puberty	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0100000	HP:0000826	Precocious puberty	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100000	HP:0000826	Precocious puberty	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional	150
HP:0100000	HP:0000826	Precocious puberty	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0100000	HP:0000826	Precocious puberty	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0100000	HP:0000826	Precocious puberty	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0100000	HP:0000826	Precocious puberty	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0100000	HP:0000826	Precocious puberty	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0100000	HP:0000826	Precocious puberty	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0100000	HP:0012412	Premature adrenarche	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0100000	HP:0000826	Precocious puberty	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0100000	HP:0000826	Precocious puberty	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0100000	HP:0000826	Precocious puberty	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0100000	HP:0000826	Precocious puberty	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0100000	HP:0000826	Precocious puberty	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0100000	HP:0000826	Precocious puberty	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0100000	HP:0000826	Precocious puberty	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	37
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040284 - Very rare	37
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040284 - Very rare	37
HP:0100000	HP:0012412	Premature adrenarche	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:0100000	HP:0000826	Precocious puberty	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0100000	HP:0000826	Precocious puberty	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0100000	HP:0000826	Precocious puberty	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0100000	HP:0000826	Precocious puberty	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	45
HP:0100000	HP:0000826	Precocious puberty	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0100000	HP:0000826	Precocious puberty	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0100000	HP:0000826	Precocious puberty	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0100000	HP:0000826	Precocious puberty	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0100000	HP:0000826	Precocious puberty	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0100000	HP:0000826	Precocious puberty	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0100000	HP:0000826	Precocious puberty	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0100000	HP:0000826	Precocious puberty	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0100000	HP:0000826	Precocious puberty	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100000	HP:0000826	Precocious puberty	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0100000	HP:0000826	Precocious puberty	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	85
HP:0100000	HP:0012412	Premature adrenarche	1	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0100000	HP:0000826	Precocious puberty	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0100000	HP:0000826	Precocious puberty	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0100000	HP:0000826	Precocious puberty	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0100000	HP:0010465	Precocious puberty in females	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	85
HP:0100000	HP:0012411	Premature pubarche	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0100000	HP:0010465	Precocious puberty in females	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0100000	HP:0010465	Precocious puberty in females	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	105
HP:0100000	HP:0010465	Precocious puberty in females	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	11
HP:0100000	HP:0010465	Precocious puberty in females	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	48
HP:0100000	HP:0010314	Premature thelarche	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0100000	HP:0008185	Precocious puberty in males	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0100000	HP:0010314	Premature thelarche	2	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040284 - Very rare	112
HP:0100000	HP:0008236	Isosexual precocious puberty	2	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0100000	HP:0012411	Premature pubarche	2	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0100000	HP:0010465	Precocious puberty in females	2	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0100000	HP:0010314	Premature thelarche	2	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:0100000	HP:0010314	Premature thelarche	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0100000	HP:0010314	Premature thelarche	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0100000	HP:0010465	Precocious puberty in females	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare
HP:0100000	HP:0010465	Precocious puberty in females	2	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0100000	HP:0012411	Premature pubarche	2	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional	5
HP:0100000	HP:0012411	Premature pubarche	2	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0100000	HP:0010314	Premature thelarche	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0100000	HP:0008236	Isosexual precocious puberty	2	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0100000	HP:0010314	Premature thelarche	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0100000	HP:0008185	Precocious puberty in males	2	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male		67
HP:0100000	HP:0008236	Isosexual precocious puberty	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare	125
HP:0100000	HP:0012411	Premature pubarche	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0100000	HP:0012411	Premature pubarche	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0100000	HP:0012411	Premature pubarche	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0100000	HP:0012411	Premature pubarche	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0100000	HP:0012411	Premature pubarche	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0100000	HP:0012411	Premature pubarche	2	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0100000	HP:0010314	Premature thelarche	2	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0100000	HP:0010314	Premature thelarche	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0100000	HP:0010314	Premature thelarche	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0100000	HP:0012411	Premature pubarche	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0100000	HP:0012411	Premature pubarche	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0100000	HP:0012411	Premature pubarche	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0100000	HP:0012411	Premature pubarche	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0100000	HP:0012411	Premature pubarche	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0100000	HP:0012411	Premature pubarche	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0100000	HP:0012411	Premature pubarche	2	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0100000	HP:0010465	Precocious puberty in females	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	42
HP:0100000	HP:0012411	Premature pubarche	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0100000	HP:0012411	Premature pubarche	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0100000	HP:0012411	Premature pubarche	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0100000	HP:0012411	Premature pubarche	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0100000	HP:0008204	Precocious puberty with Sertoli cell tumor	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0100000	HP:0012411	Premature pubarche	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0100000	HP:0010314	Premature thelarche	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12