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:
Abnormal palmar dermatoglyphics (HP:0001018)

Parent Node:
Abnormality of the palmar creases (HP:0010490)

..Starting node
..Deep palmar crease (HP:0006191)

Term ID:

6191

Name:

Deep palmar crease

Synonym:

Deep palm line; Deep palmar creases

Definition:

Excessively deep creases of the palm.

Comments:

Reference:

HP:0006191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the palmar creases (HP:0010488)

Bridged palmar crease (HP:0011310)

Multiple palmar creases (HP:0006114)

Prominent palmar flexion creases (HP:0006157)

Single transverse palmar crease (HP:0000954)

Sydney crease (HP:0011311)

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:0006191	HP:0006191	Deep palmar crease	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0006191	HP:0006191	Deep palmar crease	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0006191	HP:0006191	Deep palmar crease	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0006191	HP:0006191	Deep palmar crease	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0006191	HP:0006191	Deep palmar crease	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0006191	HP:0006191	Deep palmar crease	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0006191	HP:0006191	Deep palmar crease	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	5
HP:0006191	HP:0006191	Deep palmar crease	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0006191	HP:0006191	Deep palmar crease	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0006191	HP:0006191	Deep palmar crease	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0006191	HP:0006191	Deep palmar crease	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0006191	HP:0006191	Deep palmar crease	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0006191	HP:0006191	Deep palmar crease	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0006191	HP:0006191	Deep palmar crease	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0006191	HP:0006191	Deep palmar crease	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0006191	HP:0006191	Deep palmar crease	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	13
HP:0006191	HP:0006191	Deep palmar crease	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040284 - Very rare	7
HP:0006191	HP:0006191	Deep palmar crease	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0006191	HP:0006191	Deep palmar crease	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0006191	HP:0006191	Deep palmar crease	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0006191	HP:0006191	Deep palmar crease	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0006191	HP:0006191	Deep palmar crease	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0006191	HP:0006191	Deep palmar crease	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0006191	HP:0006191	Deep palmar crease	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0006191	HP:0006191	Deep palmar crease	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0006191	HP:0006191	Deep palmar crease	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0006191	HP:0006191	Deep palmar crease	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1	HP:0040283 - Occasional	74
HP:0006191	HP:0006191	Deep palmar crease	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0006191	HP:0006191	Deep palmar crease	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1		6
HP:0006191	HP:0006191	Deep palmar crease	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0006191	HP:0006191	Deep palmar crease	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0006191	HP:0006191	Deep palmar crease	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0006191	HP:0006191	Deep palmar crease	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1

Genes (29) :AIP ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1B2 BRAF CDK10 DPYD GPR101 HNRNPK HRAS KCNH1 KCNN3 KRAS LTBP1 MAP2K1 MAP2K2 MTOR MTX2 OTUD5 PRR12 RBM10 SHOC2 SLC25A24 SPECC1L SPRED2 TBL1XR1 VPS33A

Diseases (27) :ORPHA:963 OMIM:605039 OMIM:617190 OMIM:615485 ORPHA:2834 OMIM:278250 ORPHA:3473 ORPHA:1340 OMIM:115150 OMIM:613706 OMIM:617694 ORPHA:1675 OMIM:616580 OMIM:218040 OMIM:619451 OMIM:616638 OMIM:619127 OMIM:301056 OMIM:619539 OMIM:311900 OMIM:607721 OMIM:612289 OMIM:600251 OMIM:619745 OMIM:602342 ORPHA:487825 ORPHA:505248

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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