Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Prematurely aged appearance (HP:0007495)

Parent Node:
Abnormally lax or hyperextensible skin (HP:0008067)

Parent Node:
Premature skin wrinkling (HP:0100678)

..Starting node
..Excessive wrinkled skin (HP:0007392)

Term ID:

7392

Name:

Excessive wrinkled skin

Synonym:

Excessive wrinkled skin

Definition:

Comments:

Reference:

HP:0007392

Genes and Diseases:

Child Nodes:

........

Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)

........

Excessive wrinkling of palmar skin (HP:0007605)

................... HP:0007517 Palmoplantar cutis laxa

Sister Nodes:

Facial wrinkling (HP:0009762)

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

Periorbital wrinkles (HP:0000607)

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:0007392	HP:0007392	Excessive wrinkled skin	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0007392	HP:0007392	Excessive wrinkled skin	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0007392	HP:0007392	Excessive wrinkled skin	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0007392	HP:0007392	Excessive wrinkled skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007392	HP:0007392	Excessive wrinkled skin	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma		1371
HP:0007392	HP:0007392	Excessive wrinkled skin	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0007392	HP:0007392	Excessive wrinkled skin	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0007392	HP:0007392	Excessive wrinkled skin	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0007392	HP:0007392	Excessive wrinkled skin	0	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome		4
HP:0007392	HP:0007392	Excessive wrinkled skin	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0007392	HP:0007392	Excessive wrinkled skin	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007392	HP:0007392	Excessive wrinkled skin	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0007392	HP:0007392	Excessive wrinkled skin	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0007392	HP:0007392	Excessive wrinkled skin	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0007392	HP:0007392	Excessive wrinkled skin	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007392	HP:0007392	Excessive wrinkled skin	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007392	HP:0007392	Excessive wrinkled skin	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0007392	HP:0007392	Excessive wrinkled skin	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0007392	HP:0007392	Excessive wrinkled skin	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent	43
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0007392	HP:0007392	Excessive wrinkled skin	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0007392	HP:0007392	Excessive wrinkled skin	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0007392	HP:0007392	Excessive wrinkled skin	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007392	HP:0007392	Excessive wrinkled skin	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0007392	HP:0007392	Excessive wrinkled skin	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040282 - Frequent	146
HP:0007392	HP:0007392	Excessive wrinkled skin	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0007392	HP:0007392	Excessive wrinkled skin	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0007392	HP:0007392	Excessive wrinkled skin	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0007392	HP:0007392	Excessive wrinkled skin	0	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome		44
HP:0007392	HP:0007392	Excessive wrinkled skin	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0007392	HP:0007392	Excessive wrinkled skin	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0007392	HP:0007392	Excessive wrinkled skin	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007392	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040280 - Obligate	140
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1		15
HP:0007392	HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040282 - Frequent	1371
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	CSTA CL E G H	1475	2481	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	4
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	TGM5 CL E G H	9333	11781	ORPHA:263534	Acral peeling skin syndrome	HP:0040283 - Occasional	44
HP:0007392	HP:0007605	Excessive wrinkling of palmar skin	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome		397
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007392	HP:0007517	Palmoplantar cutis laxa	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (39) :ABCC6 ACD ADAMTS2 ADAMTSL2 ATP6V0A2 ATP6V1A ATP6V1E1 BRAF C1R CFTR COG7 COL3A1 CSTA DKC1 ENPP1 FGFR2 FGFR3 H4C5 KRAS LZTR1 MAP2K1 MAP2K2 MRAS PARN PIK3R1 PLOD1 PTEN PTPN11 PYCR1 RAF1 RIT1 RTEL1 SMARCA2 TBL1XR1 TERT TGM5 TINF2 TWIST2 ZNF469

Diseases (31) :ORPHA:758 ORPHA:3322 ORPHA:1901 ORPHA:357074 ORPHA:2834 OMIM:278250 ORPHA:1340 ORPHA:500 OMIM:130080 ORPHA:498359 ORPHA:79333 ORPHA:2500 ORPHA:286 ORPHA:263534 OMIM:123790 ORPHA:1860 OMIM:619950 OMIM:616564 OMIM:605275 OMIM:618499 ORPHA:3163 OMIM:225400 ORPHA:137608 OMIM:612940 OMIM:614438 OMIM:615355 ORPHA:3051 OMIM:601358 ORPHA:487825 ORPHA:920 OMIM:229200

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen