Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Prematurely aged appearance (HP:0007495)

..Starting node
..Premature skin wrinkling (HP:0100678)

Term ID:

100678

Name:

Premature skin wrinkling

Synonym:

Premature skin wrinkling; Wrinkled skin

Definition:

The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.

Comments:

Reference:

HP:0100678

Genes and Diseases:

Child Nodes:

........

Periorbital wrinkles (HP:0000607)

........

Excessive wrinkled skin (HP:0007392)

................... HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers
................... HP:0007605 Excessive wrinkling of palmar skin

........

Neonatal wrinkled skin of hands and feet (HP:0007414)

........

Facial wrinkling (HP:0009762)

Sister Nodes:

Aged leonine appearance (HP:0008509)

Premature graying of hair (HP:0002216)

Progeroid facial appearance (HP:0005328)

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:0100678	HP:0100678	Premature skin wrinkling	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0100678	HP:0100678	Premature skin wrinkling	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0100678	HP:0100678	Premature skin wrinkling	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0100678	HP:0100678	Premature skin wrinkling	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0100678	HP:0100678	Premature skin wrinkling	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	89
HP:0100678	HP:0100678	Premature skin wrinkling	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0100678	HP:0100678	Premature skin wrinkling	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0100678	HP:0100678	Premature skin wrinkling	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0100678	HP:0100678	Premature skin wrinkling	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0100678	HP:0100678	Premature skin wrinkling	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0100678	HP:0100678	Premature skin wrinkling	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0100678	HP:0100678	Premature skin wrinkling	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0100678	HP:0100678	Premature skin wrinkling	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0100678	HP:0100678	Premature skin wrinkling	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0100678	HP:0100678	Premature skin wrinkling	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines		276
HP:0100678	HP:0100678	Premature skin wrinkling	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0100678	HP:0100678	Premature skin wrinkling	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0100678	HP:0100678	Premature skin wrinkling	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100678	HP:0100678	Premature skin wrinkling	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0100678	HP:0100678	Premature skin wrinkling	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0100678	HP:0100678	Premature skin wrinkling	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0100678	HP:0100678	Premature skin wrinkling	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0100678	HP:0100678	Premature skin wrinkling	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria		749
HP:0100678	HP:0100678	Premature skin wrinkling	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0100678	HP:0100678	Premature skin wrinkling	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0100678	HP:0100678	Premature skin wrinkling	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0100678	HP:0100678	Premature skin wrinkling	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0100678	HP:0100678	Premature skin wrinkling	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0100678	HP:0100678	Premature skin wrinkling	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100678	HP:0100678	Premature skin wrinkling	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0100678	HP:0100678	Premature skin wrinkling	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	172
HP:0100678	HP:0100678	Premature skin wrinkling	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0100678	HP:0100678	Premature skin wrinkling	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040281 - Very frequent	63
HP:0100678	HP:0100678	Premature skin wrinkling	0	FBLN5 CL E G H	10516	3602	OMIM:614434	Cutis laxa, autosomal dominant 2	.	63
HP:0100678	HP:0100678	Premature skin wrinkling	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0100678	HP:0100678	Premature skin wrinkling	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0100678	HP:0100678	Premature skin wrinkling	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0100678	HP:0100678	Premature skin wrinkling	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100678	HP:0100678	Premature skin wrinkling	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent	3
HP:0100678	HP:0100678	Premature skin wrinkling	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0100678	HP:0100678	Premature skin wrinkling	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0100678	HP:0100678	Premature skin wrinkling	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0100678	HP:0100678	Premature skin wrinkling	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0100678	HP:0100678	Premature skin wrinkling	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100678	HP:0100678	Premature skin wrinkling	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100678	HP:0100678	Premature skin wrinkling	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0100678	HP:0100678	Premature skin wrinkling	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0100678	HP:0100678	Premature skin wrinkling	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0100678	HP:0100678	Premature skin wrinkling	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0100678	HP:0100678	Premature skin wrinkling	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100678	HP:0100678	Premature skin wrinkling	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0100678	HP:0100678	Premature skin wrinkling	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0100678	HP:0100678	Premature skin wrinkling	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0100678	HP:0100678	Premature skin wrinkling	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0100678	HP:0100678	Premature skin wrinkling	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0100678	HP:0100678	Premature skin wrinkling	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0100678	HP:0100678	Premature skin wrinkling	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0100678	HP:0100678	Premature skin wrinkling	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0100678	HP:0100678	Premature skin wrinkling	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0100678	HP:0100678	Premature skin wrinkling	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0100678	HP:0100678	Premature skin wrinkling	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines		291
HP:0100678	HP:0100678	Premature skin wrinkling	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0100678	HP:0100678	Premature skin wrinkling	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0100678	HP:0100678	Premature skin wrinkling	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines		212
HP:0100678	HP:0100678	Premature skin wrinkling	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100678	HP:0100678	Premature skin wrinkling	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0100678	HP:0100678	Premature skin wrinkling	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0100678	HP:0100678	Premature skin wrinkling	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0100678	HP:0100678	Premature skin wrinkling	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0100678	HP:0100678	Premature skin wrinkling	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0100678	HP:0100678	Premature skin wrinkling	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100678	HP:0100678	Premature skin wrinkling	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0100678	HP:0100678	Premature skin wrinkling	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0100678	HP:0100678	Premature skin wrinkling	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent	34
HP:0100678	HP:0100678	Premature skin wrinkling	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0100678	HP:0100678	Premature skin wrinkling	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		238
HP:0100678	HP:0100678	Premature skin wrinkling	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0100678	HP:0100678	Premature skin wrinkling	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		60
HP:0100678	HP:0100678	Premature skin wrinkling	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0100678	HP:0100678	Premature skin wrinkling	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0100678	HP:0100678	Premature skin wrinkling	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0100678	HP:0100678	Premature skin wrinkling	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0100678	HP:0100678	Premature skin wrinkling	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83
HP:0100678	HP:0100678	Premature skin wrinkling	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0100678	HP:0007414	Neonatal wrinkled skin of hands and feet	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0100678	HP:0007392	Excessive wrinkled skin	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0100678	HP:0007392	Excessive wrinkled skin	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0100678	HP:0007392	Excessive wrinkled skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0100678	HP:0009762	Facial wrinkling	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0100678	HP:0000607	Periorbital wrinkles	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0100678	HP:0007392	Excessive wrinkled skin	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0100678	HP:0007392	Excessive wrinkled skin	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0100678	HP:0007392	Excessive wrinkled skin	1	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0100678	HP:0007392	Excessive wrinkled skin	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100678	HP:0007392	Excessive wrinkled skin	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0100678	HP:0007392	Excessive wrinkled skin	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0100678	HP:0000607	Periorbital wrinkles	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0100678	HP:0000607	Periorbital wrinkles	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0100678	HP:0000607	Periorbital wrinkles	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0100678	HP:0000607	Periorbital wrinkles	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0100678	HP:0007392	Excessive wrinkled skin	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0100678	HP:0007392	Excessive wrinkled skin	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0100678	HP:0007414	Neonatal wrinkled skin of hands and feet	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0100678	HP:0007392	Excessive wrinkled skin	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0100678	HP:0007392	Excessive wrinkled skin	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0100678	HP:0007392	Excessive wrinkled skin	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100678	HP:0007392	Excessive wrinkled skin	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100678	HP:0007392	Excessive wrinkled skin	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0100678	HP:0007392	Excessive wrinkled skin	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0100678	HP:0009762	Facial wrinkling	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0100678	HP:0009762	Facial wrinkling	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0100678	HP:0007392	Excessive wrinkled skin	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100678	HP:0009762	Facial wrinkling	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0100678	HP:0007392	Excessive wrinkled skin	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0100678	HP:0007392	Excessive wrinkled skin	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0100678	HP:0007392	Excessive wrinkled skin	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100678	HP:0007392	Excessive wrinkled skin	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0100678	HP:0000607	Periorbital wrinkles	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100678	HP:0007392	Excessive wrinkled skin	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0100678	HP:0007392	Excessive wrinkled skin	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0100678	HP:0007392	Excessive wrinkled skin	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0100678	HP:0007392	Excessive wrinkled skin	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0100678	HP:0007392	Excessive wrinkled skin	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0100678	HP:0007392	Excessive wrinkled skin	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0100678	HP:0007392	Excessive wrinkled skin	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0100678	HP:0007392	Excessive wrinkled skin	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0100678	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040280 - Obligate	140
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0100678	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	44
HP:0100678	HP:0007605	Excessive wrinkling of palmar skin	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0100678	HP:0007517	Palmoplantar cutis laxa	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (68) :ABCC6 ACD ADAMTS2 ADAMTSL2 ALDH18A1 ALG8 AP2M1 ATP6V0A2 ATP6V1A ATP6V1E1 BRAF C1R CAV1 CDH11 CFTR CHD2 COG5 COG7 COL3A1 CSTA DKC1 EDA EDAR EDARADD ELN ENPP1 FBLN5 FGFR2 FGFR3 GORAB H4C5 KCNJ6 KRAS LIFR LMNA LZTR1 MAP2K1 MAP2K2 MED12 MRAS MRPS2 NAA10 NEXMIF PARN PIK3R1 PLOD1 POLR3A PTEN PTPN11 PYCR1 RAF1 RIT1 RTEL1 SCN1A SLC25A24 SLC2A1 SLC6A1 SMARCA2 SYNGAP1 TALDO1 TBL1XR1 TERT TGM5 TINF2 TOR1A TWIST2 ZMPSTE24 ZNF469

Diseases (59) :ORPHA:758 ORPHA:3322 ORPHA:1901 ORPHA:90348 OMIM:616603 ORPHA:79325 ORPHA:1942 ORPHA:357074 ORPHA:2834 OMIM:278250 ORPHA:1340 ORPHA:500 OMIM:130080 OMIM:606721 ORPHA:1299 ORPHA:498359 ORPHA:263487 ORPHA:79333 ORPHA:2500 ORPHA:286 ORPHA:263534 OMIM:305100 OMIM:224900 OMIM:614941 OMIM:614434 OMIM:123790 ORPHA:1860 OMIM:231070 OMIM:619950 ORPHA:435628 OMIM:601559 ORPHA:740 ORPHA:363618 OMIM:616564 OMIM:605275 ORPHA:93932 OMIM:305450 OMIM:618499 OMIM:617950 OMIM:300855 ORPHA:3163 OMIM:269880 OMIM:225400 OMIM:264090 ORPHA:3455 ORPHA:137608 OMIM:612940 OMIM:614438 OMIM:615355 OMIM:612289 OMIM:601358 ORPHA:3051 ORPHA:101028 ORPHA:487825 OMIM:618947 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:229200

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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