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

Parent Node:
Deep plantar creases (HP:0001869)

..Starting node
..Deep longitudinal plantar crease (HP:0004681)

Term ID:

4681

Name:

Deep longitudinal plantar crease

Synonym:

Foot crease; Longitudinal groove on soles

Definition:

Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.

Comments:

Reference:

HP:0004681

Genes and Diseases:

Child Nodes:

Sister Nodes:

Plantar crease between first and second toes (HP:0008107)

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:0004681	HP:0004681	Deep longitudinal plantar crease	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0004681	HP:0004681	Deep longitudinal plantar crease	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37

Genes (2) :ERCC6 PIGN

Diseases (2) :OMIM:214150 ORPHA:280633

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