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:
Abnormal foot morphology (HP:0001760)

Grandparent Node:
Regional abnormality of skin (HP:0011356)

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

..Starting node
..Multiple plantar creases (HP:0008113)

Term ID:

8113

Name:

Multiple plantar creases

Synonym:

Definition:

Comments:

Reference:

HP:0008113

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal plantar dermatoglyphics (HP:0010506)

Convex contour of sole (HP:0011303)

Deep plantar creases (HP:0001869)

Hypertrophy of skin of soles (HP:0007403)

Palmoplantar blistering (HP:0007446)

Palmoplantar cutis gyrata (HP:0007469)

Palmoplantar cutis laxa (HP:0007517)

Palmoplantar hyperhidrosis (HP:0007410)

Plantar edema (HP:0025537)

Plantar hyperkeratosis (HP:0007556)

Plantar pits (HP:0010612)

Plantar telangiectasia (HP:0100870)

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:0008113	HP:0008113	Multiple plantar creases	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0008113	HP:0008113	Multiple plantar creases	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276

Genes (2) :ATP6V0A2 BRAF

Diseases (2) :ORPHA:2834 OMIM:115150

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