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:0007495	HP:0007495	Prematurely aged appearance	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0007495	HP:0007495	Prematurely aged appearance	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0007495	HP:0007495	Prematurely aged appearance	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0007495	HP:0007495	Prematurely aged appearance	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0007495	HP:0007495	Prematurely aged appearance	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0007495	HP:0007495	Prematurely aged appearance	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	89
HP:0007495	HP:0007495	Prematurely aged appearance	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0007495	HP:0007495	Prematurely aged appearance	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0007495	HP:0007495	Prematurely aged appearance	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0007495	HP:0007495	Prematurely aged appearance	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0007495	HP:0007495	Prematurely aged appearance	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome		29
HP:0007495	HP:0007495	Prematurely aged appearance	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007495	HP:0007495	Prematurely aged appearance	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0007495	HP:0007495	Prematurely aged appearance	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0007495	HP:0007495	Prematurely aged appearance	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0007495	HP:0007495	Prematurely aged appearance	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007495	HP:0007495	Prematurely aged appearance	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0007495	HP:0007495	Prematurely aged appearance	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0007495	HP:0007495	Prematurely aged appearance	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0007495	HP:0007495	Prematurely aged appearance	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0007495	HP:0007495	Prematurely aged appearance	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0007495	HP:0007495	Prematurely aged appearance	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007495	HP:0007495	Prematurely aged appearance	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0007495	HP:0007495	Prematurely aged appearance	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0007495	HP:0007495	Prematurely aged appearance	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0007495	HP:0007495	Prematurely aged appearance	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0007495	HP:0007495	Prematurely aged appearance	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040281 - Very frequent	749
HP:0007495	HP:0007495	Prematurely aged appearance	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0007495	HP:0007495	Prematurely aged appearance	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0007495	HP:0007495	Prematurely aged appearance	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0007495	HP:0007495	Prematurely aged appearance	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0007495	HP:0007495	Prematurely aged appearance	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0007495	HP:0007495	Prematurely aged appearance	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0007495	HP:0007495	Prematurely aged appearance	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0007495	HP:0007495	Prematurely aged appearance	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked		65
HP:0007495	HP:0007495	Prematurely aged appearance	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0007495	HP:0007495	Prematurely aged appearance	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B		67
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	172
HP:0007495	HP:0007495	Prematurely aged appearance	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0007495	HP:0007495	Prematurely aged appearance	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0007495	HP:0007495	Prematurely aged appearance	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0007495	HP:0007495	Prematurely aged appearance	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0007495	HP:0007495	Prematurely aged appearance	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease		59
HP:0007495	HP:0007495	Prematurely aged appearance	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040282 - Frequent	63
HP:0007495	HP:0007495	Prematurely aged appearance	0	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2		63
HP:0007495	HP:0007495	Prematurely aged appearance	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0007495	HP:0007495	Prematurely aged appearance	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007495	HP:0007495	Prematurely aged appearance	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0007495	HP:0007495	Prematurely aged appearance	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040283 - Occasional	98
HP:0007495	HP:0007495	Prematurely aged appearance	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007495	HP:0007495	Prematurely aged appearance	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007495	HP:0007495	Prematurely aged appearance	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	52
HP:0007495	HP:0007495	Prematurely aged appearance	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0007495	HP:0007495	Prematurely aged appearance	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007495	HP:0007495	Prematurely aged appearance	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007495	HP:0007495	Prematurely aged appearance	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0007495	HP:0007495	Prematurely aged appearance	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0007495	HP:0007495	Prematurely aged appearance	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0007495	HP:0007495	Prematurely aged appearance	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0007495	HP:0007495	Prematurely aged appearance	0	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0007495	HP:0007495	Prematurely aged appearance	0	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2		9
HP:0007495	HP:0007495	Prematurely aged appearance	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0007495	HP:0007495	Prematurely aged appearance	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0007495	HP:0007495	Prematurely aged appearance	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0007495	HP:0007495	Prematurely aged appearance	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy		11
HP:0007495	HP:0007495	Prematurely aged appearance	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007495	HP:0007495	Prematurely aged appearance	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007495	HP:0007495	Prematurely aged appearance	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0007495	HP:0007495	Prematurely aged appearance	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0007495	HP:0007495	Prematurely aged appearance	0	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0007495	HP:0007495	Prematurely aged appearance	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0007495	HP:0007495	Prematurely aged appearance	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0007495	HP:0007495	Prematurely aged appearance	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2		91
HP:0007495	HP:0007495	Prematurely aged appearance	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0007495	HP:0007495	Prematurely aged appearance	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0007495	HP:0007495	Prematurely aged appearance	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0007495	HP:0007495	Prematurely aged appearance	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0007495	HP:0007495	Prematurely aged appearance	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007495	HP:0007495	Prematurely aged appearance	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007495	HP:0007495	Prematurely aged appearance	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0007495	HP:0007495	Prematurely aged appearance	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0007495	HP:0007495	Prematurely aged appearance	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0007495	HP:0007495	Prematurely aged appearance	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0007495	HP:0007495	Prematurely aged appearance	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1		35
HP:0007495	HP:0007495	Prematurely aged appearance	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease		35
HP:0007495	HP:0007495	Prematurely aged appearance	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0007495	HP:0007495	Prematurely aged appearance	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0007495	HP:0007495	Prematurely aged appearance	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0007495	HP:0007495	Prematurely aged appearance	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0007495	HP:0007495	Prematurely aged appearance	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0007495	HP:0007495	Prematurely aged appearance	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0007495	HP:0007495	Prematurely aged appearance	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0007495	HP:0007495	Prematurely aged appearance	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0007495	HP:0007495	Prematurely aged appearance	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0007495	HP:0007495	Prematurely aged appearance	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0007495	HP:0007495	Prematurely aged appearance	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0007495	HP:0007495	Prematurely aged appearance	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0007495	HP:0007495	Prematurely aged appearance	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3		59
HP:0007495	HP:0007495	Prematurely aged appearance	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0007495	HP:0007495	Prematurely aged appearance	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0007495	HP:0007495	Prematurely aged appearance	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0007495	HP:0007495	Prematurely aged appearance	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0007495	HP:0007495	Prematurely aged appearance	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0007495	HP:0007495	Prematurely aged appearance	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0007495	HP:0007495	Prematurely aged appearance	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0007495	HP:0007495	Prematurely aged appearance	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0007495	HP:0007495	Prematurely aged appearance	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0007495	HP:0007495	Prematurely aged appearance	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0007495	HP:0007495	Prematurely aged appearance	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0007495	HP:0007495	Prematurely aged appearance	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease		3
HP:0007495	HP:0007495	Prematurely aged appearance	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0007495	HP:0007495	Prematurely aged appearance	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0007495	HP:0007495	Prematurely aged appearance	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	53
HP:0007495	HP:0007495	Prematurely aged appearance	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2		67
HP:0007495	HP:0007495	Prematurely aged appearance	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0007495	HP:0007495	Prematurely aged appearance	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0007495	HP:0007495	Prematurely aged appearance	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0007495	HP:0007495	Prematurely aged appearance	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0007495	HP:0007495	Prematurely aged appearance	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0007495	HP:0007495	Prematurely aged appearance	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007495	HP:0007495	Prematurely aged appearance	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007495	HP:0007495	Prematurely aged appearance	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0007495	HP:0007495	Prematurely aged appearance	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0007495	HP:0007495	Prematurely aged appearance	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0007495	HP:0007495	Prematurely aged appearance	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0007495	HP:0007495	Prematurely aged appearance	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0007495	HP:0007495	Prematurely aged appearance	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0007495	HP:0007495	Prematurely aged appearance	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0007495	Prematurely aged appearance	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0007495	Prematurely aged appearance	0	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2		19
HP:0007495	HP:0007495	Prematurely aged appearance	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0007495	HP:0007495	Prematurely aged appearance	0	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2		61
HP:0007495	HP:0007495	Prematurely aged appearance	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0007495	HP:0007495	Prematurely aged appearance	0	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C		61
HP:0007495	HP:0007495	Prematurely aged appearance	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0007495	HP:0007495	Prematurely aged appearance	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0007495	HP:0007495	Prematurely aged appearance	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0007495	HP:0007495	Prematurely aged appearance	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0007495	HP:0007495	Prematurely aged appearance	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency		34
HP:0007495	HP:0007495	Prematurely aged appearance	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0007495	HP:0007495	Prematurely aged appearance	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		48
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2		48
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		238
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0007495	HP:0007495	Prematurely aged appearance	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0007495	HP:0007495	Prematurely aged appearance	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0007495	HP:0007495	Prematurely aged appearance	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0007495	HP:0007495	Prematurely aged appearance	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0007495	HP:0007495	Prematurely aged appearance	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0007495	HP:0007495	Prematurely aged appearance	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0007495	HP:0007495	Prematurely aged appearance	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1		60
HP:0007495	HP:0007495	Prematurely aged appearance	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0007495	HP:0007495	Prematurely aged appearance	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0007495	HP:0007495	Prematurely aged appearance	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0007495	HP:0007495	Prematurely aged appearance	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0007495	HP:0007495	Prematurely aged appearance	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0007495	HP:0007495	Prematurely aged appearance	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0007495	HP:0007495	Prematurely aged appearance	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0007495	HP:0007495	Prematurely aged appearance	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7
HP:0007495	HP:0007495	Prematurely aged appearance	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0007495	HP:0007495	Prematurely aged appearance	0	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2		146
HP:0007495	HP:0007495	Prematurely aged appearance	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0007495	HP:0007495	Prematurely aged appearance	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0007495	HP:0007495	Prematurely aged appearance	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0007495	HP:0007495	Prematurely aged appearance	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0007495	HP:0007495	Prematurely aged appearance	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0007495	HP:0007495	Prematurely aged appearance	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0007495	HP:0007495	Prematurely aged appearance	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0007495	HP:0007495	Prematurely aged appearance	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0007495	HP:0007495	Prematurely aged appearance	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007495	HP:0007495	Prematurely aged appearance	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0007495	HP:0100678	Premature skin wrinkling	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0007495	HP:0002216	Premature graying of hair	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0007495	HP:0100678	Premature skin wrinkling	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0007495	HP:0100678	Premature skin wrinkling	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0007495	HP:0100678	Premature skin wrinkling	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0007495	HP:0100678	Premature skin wrinkling	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	89
HP:0007495	HP:0100678	Premature skin wrinkling	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0007495	HP:0100678	Premature skin wrinkling	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0007495	HP:0100678	Premature skin wrinkling	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0007495	HP:0002216	Premature graying of hair	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0007495	HP:0100678	Premature skin wrinkling	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0007495	HP:0100678	Premature skin wrinkling	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007495	HP:0100678	Premature skin wrinkling	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0007495	HP:0005328	Progeroid facial appearance	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007495	HP:0100678	Premature skin wrinkling	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0007495	HP:0100678	Premature skin wrinkling	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0007495	HP:0005328	Progeroid facial appearance	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0007495	HP:0005328	Progeroid facial appearance	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0007495	HP:0100678	Premature skin wrinkling	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0007495	HP:0100678	Premature skin wrinkling	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0007495	HP:0002216	Premature graying of hair	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0007495	HP:0100678	Premature skin wrinkling	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007495	HP:0005328	Progeroid facial appearance	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0007495	HP:0100678	Premature skin wrinkling	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0007495	HP:0100678	Premature skin wrinkling	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0007495	HP:0100678	Premature skin wrinkling	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007495	HP:0100678	Premature skin wrinkling	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0007495	HP:0100678	Premature skin wrinkling	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0007495	HP:0100678	Premature skin wrinkling	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0007495	HP:0100678	Premature skin wrinkling	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0007495	HP:0100678	Premature skin wrinkling	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0007495	HP:0100678	Premature skin wrinkling	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0007495	HP:0002216	Premature graying of hair	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0007495	HP:0002216	Premature graying of hair	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0007495	HP:0002216	Premature graying of hair	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0007495	HP:0002216	Premature graying of hair	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0007495	HP:0100678	Premature skin wrinkling	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0007495	HP:0002216	Premature graying of hair	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0007495	HP:0100678	Premature skin wrinkling	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0007495	HP:0100678	Premature skin wrinkling	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0007495	HP:0100678	Premature skin wrinkling	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0007495	HP:0100678	Premature skin wrinkling	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0007495	HP:0002216	Premature graying of hair	1	EDN3 CL E G H	1908	3178	OMIM:613265	Waardenburg syndrome, type 4B	.	67
HP:0007495	HP:0002216	Premature graying of hair	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0007495	HP:0002216	Premature graying of hair	1	EDNRB CL E G H	1910	3180	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	55
HP:0007495	HP:0002216	Premature graying of hair	1	EDNRB CL E G H	1910	3180	OMIM:277580	Waardenburg-Shah syndrome	.	55
HP:0007495	HP:0002216	Premature graying of hair	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0007495	HP:0100678	Premature skin wrinkling	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	172
HP:0007495	HP:0005328	Progeroid facial appearance	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0007495	HP:0002216	Premature graying of hair	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0007495	HP:0100678	Premature skin wrinkling	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	20
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	199
HP:0007495	HP:0002216	Premature graying of hair	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0007495	HP:0005328	Progeroid facial appearance	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040282 - Frequent	55
HP:0007495	HP:0002216	Premature graying of hair	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0007495	HP:0002216	Premature graying of hair	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	59
HP:0007495	HP:0100678	Premature skin wrinkling	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	63
HP:0007495	HP:0100678	Premature skin wrinkling	1	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2	.	63
HP:0007495	HP:0005328	Progeroid facial appearance	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0007495	HP:0100678	Premature skin wrinkling	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007495	HP:0100678	Premature skin wrinkling	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0007495	HP:0005328	Progeroid facial appearance	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0007495	HP:0005328	Progeroid facial appearance	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0007495	HP:0005328	Progeroid facial appearance	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0007495	HP:0100678	Premature skin wrinkling	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0007495	HP:0100678	Premature skin wrinkling	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0007495	HP:0002216	Premature graying of hair	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0007495	HP:0005328	Progeroid facial appearance	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040280 - Obligate	3
HP:0007495	HP:0005328	Progeroid facial appearance	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0007495	HP:0100678	Premature skin wrinkling	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent	3
HP:0007495	HP:0002216	Premature graying of hair	1	KITLG CL E G H	4254	6343	OMIM:619947			9
HP:0007495	HP:0002216	Premature graying of hair	1	KITLG CL E G H	4254	6343	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	9
HP:0007495	HP:0100678	Premature skin wrinkling	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0007495	HP:0100678	Premature skin wrinkling	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0007495	HP:0005328	Progeroid facial appearance	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0002216	Premature graying of hair	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0002216	Premature graying of hair	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0007495	HP:0005328	Progeroid facial appearance	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent	645
HP:0007495	HP:0100678	Premature skin wrinkling	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0100678	Premature skin wrinkling	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0002216	Premature graying of hair	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0007495	HP:0005328	Progeroid facial appearance	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0007495	HP:0005328	Progeroid facial appearance	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0007495	HP:0100678	Premature skin wrinkling	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007495	HP:0100678	Premature skin wrinkling	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007495	HP:0100678	Premature skin wrinkling	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0007495	HP:0100678	Premature skin wrinkling	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0007495	HP:0002216	Premature graying of hair	1	MDM2 CL E G H	4193	6973	OMIM:618681	LESSEL-KUBISCH SYNDROME; LSKB		1
HP:0007495	HP:0100678	Premature skin wrinkling	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0007495	HP:0100678	Premature skin wrinkling	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0007495	HP:0002216	Premature graying of hair	1	MITF CL E G H	4286	7105	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	91
HP:0007495	HP:0002216	Premature graying of hair	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0007495	HP:0002216	Premature graying of hair	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0007495	HP:0002216	Premature graying of hair	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0007495	HP:0100678	Premature skin wrinkling	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007495	HP:0100678	Premature skin wrinkling	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0007495	HP:0002216	Premature graying of hair	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	HP:0040283 - Occasional	85
HP:0007495	HP:0005328	Progeroid facial appearance	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0007495	HP:0005328	Progeroid facial appearance	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0007495	HP:0002216	Premature graying of hair	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent	35
HP:0007495	HP:0002216	Premature graying of hair	1	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040281 - Very frequent	35
HP:0007495	HP:0100678	Premature skin wrinkling	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0007495	HP:0100678	Premature skin wrinkling	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0007495	HP:0002216	Premature graying of hair	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0007495	HP:0002216	Premature graying of hair	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0007495	HP:0002216	Premature graying of hair	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0007495	HP:0002216	Premature graying of hair	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0007495	HP:0100678	Premature skin wrinkling	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0007495	HP:0002216	Premature graying of hair	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0007495	HP:0002216	Premature graying of hair	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0007495	HP:0002216	Premature graying of hair	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0007495	HP:0002216	Premature graying of hair	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0007495	HP:0002216	Premature graying of hair	1	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.	59
HP:0007495	HP:0100678	Premature skin wrinkling	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0007495	HP:0100678	Premature skin wrinkling	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0007495	HP:0100678	Premature skin wrinkling	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0007495	HP:0100678	Premature skin wrinkling	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0007495	HP:0100678	Premature skin wrinkling	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0007495	HP:0005328	Progeroid facial appearance	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0007495	HP:0002216	Premature graying of hair	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0007495	HP:0005328	Progeroid facial appearance	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0007495	HP:0100678	Premature skin wrinkling	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0007495	HP:0100678	Premature skin wrinkling	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0007495	HP:0002216	Premature graying of hair	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040281 - Very frequent	3
HP:0007495	HP:0100678	Premature skin wrinkling	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0007495	HP:0100678	Premature skin wrinkling	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0007495	HP:0002216	Premature graying of hair	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent	67
HP:0007495	HP:0100678	Premature skin wrinkling	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0007495	HP:0002216	Premature graying of hair	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0007495	HP:0100678	Premature skin wrinkling	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007495	HP:0005328	Progeroid facial appearance	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0007495	HP:0002216	Premature graying of hair	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0007495	HP:0002216	Premature graying of hair	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0007495	HP:0002216	Premature graying of hair	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0007495	HP:0100678	Premature skin wrinkling	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0007495	HP:0100678	Premature skin wrinkling	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0007495	HP:0100678	Premature skin wrinkling	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0007495	HP:0100678	Premature skin wrinkling	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0007495	HP:0002216	Premature graying of hair	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0007495	HP:0100678	Premature skin wrinkling	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0007495	HP:0100678	Premature skin wrinkling	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0100678	Premature skin wrinkling	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0002216	Premature graying of hair	1	SNAI2 CL E G H	6591	11094	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	19
HP:0007495	HP:0002216	Premature graying of hair	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0007495	HP:0002216	Premature graying of hair	1	SOX10 CL E G H	6663	11190	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	61
HP:0007495	HP:0002216	Premature graying of hair	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0007495	HP:0002216	Premature graying of hair	1	SOX10 CL E G H	6663	11190	OMIM:613266	Waardenburg syndrome, type 4C	.	61
HP:0007495	HP:0002216	Premature graying of hair	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0007495	HP:0002216	Premature graying of hair	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0007495	HP:0005328	Progeroid facial appearance	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040282 - Frequent	14
HP:0007495	HP:0100678	Premature skin wrinkling	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0007495	HP:0100678	Premature skin wrinkling	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent	34
HP:0007495	HP:0100678	Premature skin wrinkling	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0007495	HP:0002216	Premature graying of hair	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0007495	HP:0002216	Premature graying of hair	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0007495	HP:0002216	Premature graying of hair	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0007495	HP:0002216	Premature graying of hair	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0007495	HP:0002216	Premature graying of hair	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0007495	HP:0002216	Premature graying of hair	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0007495	HP:0002216	Premature graying of hair	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0007495	HP:0100678	Premature skin wrinkling	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0007495	HP:0002216	Premature graying of hair	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0007495	HP:0002216	Premature graying of hair	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0007495	HP:0002216	Premature graying of hair	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0007495	HP:0100678	Premature skin wrinkling	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0007495	HP:0002216	Premature graying of hair	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0007495	HP:0002216	Premature graying of hair	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0007495	HP:0002216	Premature graying of hair	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0007495	HP:0100678	Premature skin wrinkling	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0007495	HP:0002216	Premature graying of hair	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0007495	HP:0100678	Premature skin wrinkling	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0007495	HP:0100678	Premature skin wrinkling	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0007495	HP:0100678	Premature skin wrinkling	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0007495	HP:0100678	Premature skin wrinkling	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0007495	HP:0008509	Aged leonine appearance	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0007495	HP:0002216	Premature graying of hair	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0007495	HP:0002216	Premature graying of hair	1	TYR CL E G H	7299	12442	ORPHA:895	Waardenburg syndrome type 2	HP:0040281 - Very frequent	146
HP:0007495	HP:0002216	Premature graying of hair	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0007495	HP:0002216	Premature graying of hair	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0007495	HP:0005328	Progeroid facial appearance	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0007495	HP:0002216	Premature graying of hair	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0007495	HP:0100678	Premature skin wrinkling	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0007495	HP:0005328	Progeroid facial appearance	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0007495	HP:0005328	Progeroid facial appearance	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0007495	HP:0100678	Premature skin wrinkling	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007495	HP:0002216	Premature graying of hair	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0007495	HP:0007414	Neonatal wrinkled skin of hands and feet	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0007495	HP:0007392	Excessive wrinkled skin	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0007495	HP:0007392	Excessive wrinkled skin	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0007495	HP:0007392	Excessive wrinkled skin	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007495	HP:0009762	Facial wrinkling	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0007495	HP:0000607	Periorbital wrinkles	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0007495	HP:0007392	Excessive wrinkled skin	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007495	HP:0007392	Excessive wrinkled skin	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0007495	HP:0007392	Excessive wrinkled skin	2	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0007495	HP:0007392	Excessive wrinkled skin	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0007495	HP:0007392	Excessive wrinkled skin	2	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0007495	HP:0007392	Excessive wrinkled skin	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0007495	HP:0004771	Premature graying of body hair	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0007495	HP:0000607	Periorbital wrinkles	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0007495	HP:0000607	Periorbital wrinkles	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0007495	HP:0000607	Periorbital wrinkles	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0007495	HP:0000607	Periorbital wrinkles	2	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0007495	HP:0007392	Excessive wrinkled skin	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007495	HP:0007392	Excessive wrinkled skin	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0007495	HP:0007414	Neonatal wrinkled skin of hands and feet	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0007495	HP:0007392	Excessive wrinkled skin	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0007495	HP:0007392	Excessive wrinkled skin	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0007495	HP:0007392	Excessive wrinkled skin	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007495	HP:0007392	Excessive wrinkled skin	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007495	HP:0007392	Excessive wrinkled skin	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0007495	HP:0007392	Excessive wrinkled skin	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0007495	HP:0009762	Facial wrinkling	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0007495	HP:0009762	Facial wrinkling	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0007495	HP:0007392	Excessive wrinkled skin	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007495	HP:0009762	Facial wrinkling	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0007495	HP:0007392	Excessive wrinkled skin	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0007495	HP:0007392	Excessive wrinkled skin	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0007495	HP:0007392	Excessive wrinkled skin	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007495	HP:0007392	Excessive wrinkled skin	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0007495	HP:0007392	Excessive wrinkled skin	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0007495	HP:0000607	Periorbital wrinkles	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0007392	Excessive wrinkled skin	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007495	HP:0007392	Excessive wrinkled skin	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0007495	HP:0007392	Excessive wrinkled skin	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0007495	HP:0007392	Excessive wrinkled skin	2	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0007495	HP:0007392	Excessive wrinkled skin	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0007495	HP:0007392	Excessive wrinkled skin	2	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0007495	HP:0007392	Excessive wrinkled skin	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007495	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040280 - Obligate	140
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007495	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	3	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	44
HP:0007495	HP:0007605	Excessive wrinkling of palmar skin	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007495	HP:0007517	Palmoplantar cutis laxa	4	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397