Human Phenotype Ontology

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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:
Localized skin lesion (HP:0011355)

Parent Node:
Papule (HP:0200034)

..Starting node
..Piezogenic pedal papules (HP:0025509)

Term ID:

25509

Name:

Piezogenic pedal papules

Synonym:

Definition:

Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.

Comments:

Reference:

HP:0025509

Genes and Diseases:

Child Nodes:

Sister Nodes:

Erythematous papule (HP:0030350)

Gottron's papules (HP:0025508)

Hyperkeratotic papule (HP:0045059)

Hyperpigmented papule (HP:0025473)

Intermittent generalized erythematous papular rash (HP:0007432)

Skin-colored papule (HP:0025512)

Verrucous papule (HP:0012500)

White papule (HP:0031289)

Yellow papule (HP:0025507)

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:0025509	HP:0025509	Piezogenic pedal papules	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0025509	HP:0025509	Piezogenic pedal papules	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0025509	HP:0025509	Piezogenic pedal papules	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0025509	HP:0025509	Piezogenic pedal papules	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325

Genes (4) :AEBP1 COL1A1 COL5A1 COL5A2

Diseases (2) :ORPHA:536532 ORPHA:287

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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