Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Early onset of sexual maturation (HP:0100000)

..Starting node
..Precocious puberty (HP:0000826)

Term ID:

826

Name:

Precocious puberty

Synonym:

Early onset of puberty; Early puberty

Definition:

The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.

Comments:

Reference:

HP:0000826

Genes and Diseases:

Child Nodes:

........

Precocious puberty in males (HP:0008185)

........

Precocious puberty with Sertoli cell tumor (HP:0008204)

........

Isosexual precocious puberty (HP:0008236)

........

Premature thelarche (HP:0010314)

........

Precocious puberty in females (HP:0010465)

........

Premature pubarche (HP:0012411)

Sister Nodes:

Premature adrenarche (HP:0012412)

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

Genes (162) :AGPAT2 AIP ALMS1 ARX ASXL3 BAZ1B BCL7B BSCL2 BUD23 CASK CAV1 CAVIN1 CDKL5 CDON CLIP2 CNTNAP2 CPLX1 CREBBP CTBP1 CYP11B1 CYP17A1 DDX3X DEAF1 DHCR7 DISP1 DLK1 DLL1 DMXL2 DNAJC30 DYRK1A EHMT1 EIF4H EIF5A ELN EP300 FGF8 FGFRL1 FKBP6 FLI1 FLII FOS FOXH1 FREM1 GAS1 GLI2 GLI3 GNAO1 GNAS GRB10 GRIA1 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 H4C5 H6PD HERC2 HNRNPR HRAS HSD11B1 HSD3B2 HYMAI IDH1 IDH2 IFNG INSR IPW IQSEC2 KANSL1 KCNA1 KDM6A KISS1R KMT2B KMT2C KMT2D KRAS LETM1 LHCGR LIMK1 LMNA LRP5 MAB21L2 MAGEL2 MC2R MEG3 MEN1 METTL27 MIA3 MKRN3 MKRN3-AS1 MLXIPL MMP14 MMP2 MRAP MSL3 NCF1 NDN NEUROD2 NF1 NFIX NNT NODAL NPAP1 NR0B1 NR3C1 NRAS NSD2 OCA2 PAPSS2 PCNT PDE11A PIGF PIGP PIGQ PIGT PLAGL1 PNKP PPARG PRKAR1A PTCH1 PTH1R PWAR1 PWRN1 RAB23 RAI1 RFC2 RTL1 SCN1B SCN2A SHH SIK1 SIM1 SIX3 SLC25A22 SLC35A2 SMAD4 SNORD115-1 SNORD116-1 SNRPN SOX6 SPEN SRCAP STAR STIL STK11 STX1A TANGO2 TBL2 TDGF1 TFE3 TGIF1 TMEM270 TNRC6B TONSL TRIM8 TSC1 TSC2 TXNRD2 VPS37D ZIC2 ZNF526

Diseases (92) :ORPHA:528 ORPHA:99725 ORPHA:64 ORPHA:1934 OMIM:615485 ORPHA:904 ORPHA:280195 ORPHA:163681 OMIM:194190 OMIM:180849 OMIM:202010 ORPHA:90795 ORPHA:90793 OMIM:300958 ORPHA:457260 ORPHA:819 OMIM:270400 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:268261 ORPHA:261652 OMIM:619376 ORPHA:370348 OMIM:608980 OMIM:146510 ORPHA:672 ORPHA:562 OMIM:174800 ORPHA:96182 OMIM:619931 OMIM:619950 OMIM:604931 OMIM:176270 OMIM:620073 ORPHA:2874 OMIM:163200 ORPHA:79414 OMIM:614662 OMIM:201810 ORPHA:96191 ORPHA:296 OMIM:613254 OMIM:246200 OMIM:262190 ORPHA:769 ORPHA:217377 ORPHA:363958 ORPHA:363965 ORPHA:2322 OMIM:147920 OMIM:176400 ORPHA:589618 ORPHA:3000 OMIM:176410 ORPHA:2229 ORPHA:2788 OMIM:615877 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:361 OMIM:619269 OMIM:615346 ORPHA:371428 OMIM:301032 ORPHA:97685 ORPHA:447980 OMIM:614736 OMIM:300200 ORPHA:786 OMIM:612847 ORPHA:2637 OMIM:210720 ORPHA:1359 OMIM:619356 ORPHA:369837 OMIM:201000 ORPHA:398079 ORPHA:356961 ORPHA:2588 OMIM:618971 OMIM:619312 ORPHA:2044 OMIM:175200 OMIM:616878 OMIM:301066 OMIM:619243 ORPHA:93357 OMIM:191100 OMIM:619877

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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