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 skin morphology of the palm (HP:0040211)

Grandparent Node:
Excessive wrinkled skin (HP:0007392)

Parent Node:
Abnormality of the plantar skin of foot (HP:0100872)

Parent Node:
Cutis laxa (HP:0000973)

Parent Node:
Excessive wrinkling of palmar skin (HP:0007605)

..Starting node
..Palmoplantar cutis laxa (HP:0007517)

Term ID:

7517

Name:

Palmoplantar cutis laxa

Synonym:

Excessive wrinkled skin of palms and soles; Furrowed palms and soles; Increased wrinkles of palms and soles; Wrinkled palms and soles; Wrinkled skin of hands and feet

Definition:

Loose, wrinkled skin of hands and feet.

Comments:

Reference:

HP:0007517

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007517	HP:0007517	Palmoplantar cutis laxa	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0007517	HP:0007517	Palmoplantar cutis laxa	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.	397

Genes (8) :ATP6V0A2 C1R FGFR2 LZTR1 MRAS PLOD1 RIT1 ZNF469

Diseases (9) :OMIM:278250 OMIM:130080 OMIM:123790 OMIM:616564 OMIM:605275 OMIM:618499 OMIM:225400 OMIM:615355 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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